| - GRCh37:
- Chr16:4694893-29182141
- GRCh38:
- Chr16:4644892-29170820
| ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ATF7IP2, ATP2A1, ATP2A1-AS1, ATXN2L, BCAR4, BFAR, BMERB1, C16orf82, C16orf89, CACNG3, CARHSP1, CARHSP1-DT, CCP110, CD19, CDR2, CDR2-DT, CEP20, CHP2, CIITA, CLEC16A, CLEC19A, CLN3, COG7, COQ7, COQ7-DT, CPPED1, CRYM, CRYM-AS1, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, GDE1, GGA2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, IQCK, ITPRIPL2, KATNIP, KDM8, KNOP1, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LDAF1, LINC01177, LINC01195, LINC01290, LINC01567, LINC01570, LINC02129, LINC02130, LINC02152, LINC02164, LINC02175, LINC02177, LINC02185, LINC02186, LINC02191, LINC02194, LINC02195, LINC02890, LITAF, LITAFD, LOC100128079, LOC100130283, LOC100190986, LOC100288162, LOC100505915, LOC101927026, LOC101927131, LOC101927227, LOC101927814, LOC102723536, LOC102723692, LOC105371079, LOC105371083, LOC105371114, LOC105371115, LOC105371129, LOC106799840, LOC107522031, LOC110121335, LOC111365165, LOC111365198, LOC111464986, LOC111562378, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC112340389, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939949, LOC113939951, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC116276449, LOC116276450, LOC116276451, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121587532, LOC121587533, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC121847974, LOC121847975, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC125146423, LOC125146424, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC126862306, LOC126862307, LOC126862308, LOC126862309, LOC126862310, LOC126862311, LOC126862312, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC129390768, LOC129390769, LOC129390770, LOC129390771, LOC129390772, LOC129390773, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, LOC130058379, LOC130058380, LOC130058381, LOC130058382, LOC130058383, LOC130058384, LOC130058385, LOC130058386, LOC130058387, LOC130058388, LOC130058389, LOC130058390, LOC130058391, LOC130058392, LOC130058393, LOC130058394, LOC130058395, LOC130058396, LOC130058397, LOC130058398, LOC130058399, LOC130058400, LOC130058401, LOC130058402, LOC130058403, LOC130058404, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426, LOC130058427, LOC130058428, LOC130058429, LOC130058430, LOC130058431, LOC130058432, LOC130058433, LOC130058434, LOC130058435, LOC130058436, LOC130058437, LOC130058438, LOC130058439, LOC130058440, LOC130058441, LOC130058442, LOC130058443, LOC130058444, LOC130058445, LOC130058446, LOC130058447, LOC130058448, LOC130058449, LOC130058450, LOC130058451, LOC130058452, LOC130058453, LOC130058454, LOC130058455, LOC130058456, LOC130058457, LOC130058458, LOC130058459, LOC130058460, LOC130058461, LOC130058462, LOC130058463, LOC130058464, LOC130058465, LOC130058466, LOC130058467, LOC130058468, LOC130058469, LOC130058470, LOC130058471, LOC130058472, LOC130058473, LOC130058474, LOC130058475, LOC130058476, LOC130058477, LOC130058478, LOC130058479, LOC130058480, LOC130058481, LOC130058482, LOC130058483, LOC130058484, LOC130058485, LOC130058486, LOC130058487, LOC130058488, LOC130058489, LOC130058490, LOC130058491, LOC130058492, LOC130058493, LOC130058494, LOC130058495, LOC130058496, LOC130058497, LOC130058498, LOC130058499, LOC130058500, LOC130058501, LOC130058502, LOC130058503, LOC130058504, LOC130058505, LOC130058506, LOC130058507, LOC130058508, LOC130058509, LOC130058510, LOC130058511, LOC130058512, LOC130058513, LOC130058514, LOC130058515, LOC130058516, LOC130058517, LOC130058518, LOC130058519, LOC130058520, LOC130058521, LOC130058522, LOC130058523, LOC130058524, LOC130058525, LOC130058526, LOC130058527, LOC130058528, LOC130058529, LOC130058530, LOC130058531, LOC130058532, LOC130058533, LOC130058534, LOC130058535, LOC130058536, LOC130058537, LOC130058538, LOC130058539, LOC130058540, LOC130058541, LOC130058542, LOC130058543, LOC130058544, LOC130058545, LOC130058546, LOC130058547, LOC130058548, LOC130058549, LOC130058550, LOC130058551, LOC130058552, LOC130058553, LOC130058554, LOC130058555, LOC130058556, LOC130058557, LOC130058558, LOC130058559, LOC130058560, LOC130058561, LOC130058562, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, LOC130058576, LOC130058577, LOC130058578, LOC130058579, LOC130058580, LOC130058581, LOC130058582, LOC130058583, LOC130058584, LOC130058585, LOC130058586, LOC130058587, LOC130058588, LOC130058589, LOC130058590, LOC130058591, LOC130058592, LOC130058593, LOC130058594, LOC130058595, LOC130058596, LOC130058597, LOC130058598, LOC130058599, LOC130058600, LOC130058601, LOC130058602, LOC130058603, LOC130058604, LOC130058605, LOC130058606, LOC130058607, LOC130058608, LOC130058609, LOC130058610, LOC130058611, LOC130058612, LOC130058613, LOC130058614, LOC130058615, LOC130058616, LOC130058617, LOC130058618, LOC130058619, LOC130058620, LOC130058621, LOC130058622, LOC130058623, LOC130058624, LOC130058625, LOC130058626, LOC130058627, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC130058647, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC131696449, LOC132090371, LOC132090372, LOC132090373, LOC132090399, LOC132205950, LOC400499, LYRM1, MARF1, METTL22, METTL9, MGRN1, MIR1273H, MIR193B, MIR193BHG, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR365A, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR3680-1, MIR4517, MIR4718, MIR4721, MIR484, MIR548H2, MIR548W, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6769A, MIR6770-1, MIR6770-2, MIR6770-3, MIR6862-1, MIR6862-2, MIR8065, MOSMO, MPV17L, MPV17L-BMERB1, MRTFB, MYH11, NAGPA, NAGPA-AS1, NDE1, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA6, NPIPA7, NPIPA8, NPIPA9, NPIPB2, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NTAN1, NUBP1, NUDT16L1, NUPR1, OTOA, PALB2, PARN, PDILT, PDXDC1, PDZD9, PLA2G10, PLK1, PMM2, POLR3E, PPL, PRKCB, PRM1, PRM2, PRM3, RABEP2, RBBP6, RBFOX1, REXO5, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, RSL1D1-DT, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SGF29, SH2B1, SHISA9, SLC5A11, SMG1, SMIM22, SNN, SNX29, SOCS1, SPNS1, SULT1A1, SULT1A2, SYT17, TEKT5, THUMPD1, TMC5, TMC7, TMEM114, TMEM186, TNFRSF17, TNP2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TRT-CGT2-1, TUFM, TVP23A, TXNDC11, TXNDC11-AS1, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, USP7-AS1, VPS35L, VWA3A, XPO6, XYLT1, ZC3H7A, ZKSCAN2, ZKSCAN2-DT, ZNF500, ZP2 | | See cases | Pathogenic (Dec 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr16:21361943-29214158
- GRCh38:
- Chr16:21350622-29202837
| APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CDR2-DT, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LINC02890, LOC100128079, LOC100190986, LOC101927814, LOC102723536, LOC105371129, LOC108281183, LOC111365198, LOC111562378, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058622, LOC130058623, LOC130058624, LOC130058625, LOC130058626, LOC130058627, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC130058647, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC132090371, LOC132090372, LOC132090373, METTL9, MIR1273H, MIR3680-1, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MOSMO, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2, ZKSCAN2-DT | | See cases | Likely pathogenic (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:21475060-29260900
- GRCh38:
- Chr16:21463739-29249579
| LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC132090371, LOC132090372, LOC132090373, METTL9, MIR1273H, MIR3680-1, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MOSMO, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2, ZKSCAN2-DT, APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CDR2-DT, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LINC02890, LOC100128079, LOC101927814, LOC101928188, LOC102723536, LOC102723708, LOC105371129, LOC108281183, LOC111365198, LOC111562378, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058622, LOC130058623, LOC130058624, LOC130058625, LOC130058626, LOC130058627, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC130058647, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:21613504-29325694
- GRCh38:
- Chr16:21602183-29314373
| APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CDR2-DT, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LINC02890, LOC100128079, LOC101928188, LOC102723536, LOC102723708, LOC105371129, LOC108281183, LOC111365198, LOC111562378, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058625, LOC130058626, LOC130058627, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC130058647, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC132090373, METTL9, MIR1273H, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MOSMO, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2, ZKSCAN2-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:22645706-29238644
- GRCh38:
- Chr16:22634385-29227323
| APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CHP2, CLN3, COG7, DCTN5, EARS2, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC102723536, LOC102723708, LOC108281183, LOC111365198, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR1273H, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, PALB2, PLK1, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TUFM, UBFD1, USP31, XPO6, ZKSCAN2, ZKSCAN2-DT | | See cases | Likely pathogenic (Jan 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:23059290-30643566
- GRCh38:
- Chr16:23047969-30632245
| DCTPP1, DOC2A, EARS2, EIF3C, EIF3CL, ERN2, GDPD3, GGA2, GSG1L, GTF3C1, HIRIP3, HS3ST4, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAL, ITGAL-AS1, KATNIP, KCTD13, KDM8, KIF22, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC102723536, LOC102723708, LOC108281183, LOC111365198, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112352681, LOC112441444, LOC112441445, LOC112694756, LOC116276449, LOC116276450, LOC116276451, LOC116276452, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121587540, LOC121587541, LOC121847975, LOC121847976, LOC121847977, LOC121847978, LOC121847979, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC125146442, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC128462412, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, LOC130058820, LOC130058821, LOC130058822, LOC130058823, LOC130058824, LOC130058825, LOC130058826, LOC130058827, LOC130058828, LOC130058829, LOC130058830, LOC130058831, LOC130058832, LOC130058833, LOC130058834, LOC130058835, LOC130058836, LOC130058837, LOC130058838, LOC130058839, LOC130058840, LOC130058841, LOC130058842, LOC130058843, LOC130058844, LOC130058845, LOC130058846, LOC130058847, LOC130058848, LOC130058849, LOC130058850, MAPK3, MAZ, MIR1273H, MIR3680-2, MIR4517, MIR4518, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MVP, MVP-DT, MYL11, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB13, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, PAGR1, PALB2, PLK1, PPP4C, PRKCB, PRRT2, QPRT, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SEPHS2, SEPTIN1, SEZ6L2, SGF29, SH2B1, SLC5A11, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA80C, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, TNRC6A, TUFM, UBFD1, USP31, XPO6, YPEL3, YPEL3-DT, ZG16, ZKSCAN2, ZKSCAN2-DT, ZNF48, ZNF688, ZNF689, ZNF747, ZNF747-DT, ZNF764, ZNF768, ZNF771, ZNF785, ALDOA, APOBR, AQP8, ARHGAP17, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf82, C16orf92, CACNG3, CD19, CD2BP2, CD2BP2-DT, CDIPT, CDIPTOSP, CHP2, CLN3, COG7, CORO1A, CORO1A-AS1, DCTN5 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23763368-31955076
- GRCh38:
- Chr16:23752047-31943755
| LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, LOC130058820, LOC130058821, LOC130058822, LOC130058823, LOC130058824, LOC130058825, LOC130058826, LOC130058827, LOC130058828, LOC130058829, LOC130058830, LOC130058831, LOC130058832, LOC130058833, LOC130058834, LOC130058835, LOC130058836, LOC130058837, LOC130058838, LOC130058839, LOC130058840, LOC130058841, LOC130058842, LOC130058843, LOC130058844, LOC130058845, LOC130058846, LOC130058847, LOC130058848, LOC130058849, LOC130058850, LOC130058851, LOC130058852, LOC130058853, LOC130058854, LOC130058855, LOC130058856, LOC130058857, LOC130058858, LOC130058859, LOC130058860, LOC130058861, LOC130058862, LOC130058863, LOC130058864, LOC130058865, LOC130058866, LOC130058867, LOC130058868, LOC130058869, LOC130058870, LOC130058871, LOC130058872, LOC130058873, LOC130058874, LOC130058875, LOC130058876, LOC130058877, LOC130058878, LOC130058879, LOC130058880, LOC130058881, LOC130058882, LOC130058883, LOC130058884, LOC130058885, LOC130058886, LOC130058887, LOC130058888, LOC130058889, LOC130058890, LOC130058891, LOC130058892, LOC130058893, LOC130058894, LOC130058895, LOC130058896, LOC130058897, LOC130058898, LOC130058899, LOC130058900, LOC130058901, LOC130058902, LOC130058903, LOC130058904, LOC130058905, LOC130058906, LOC130058907, LOC130058908, LOC130058909, LOC130058910, LOC130058911, LOC130058912, LOC130058913, LOC130058914, LOC130058915, LOC730183, MAPK3, MAZ, MIR1273H, MIR3680-2, MIR4517, MIR4518, MIR4519, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MIR762, MIR762HG, MVP, MVP-DT, MYL11, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB13, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, ORAI3, PAGR1, PHKG2, PPP4C, PRKCB, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, PYCARD, PYCARD-AS1, PYDC1, QPRT, RABEP2, RBBP6, RNF40, RUSF1, RUSF1-DT, SBK1, SEPHS2, SEPTIN1, SETD1A, SEZ6L2, SGF29, SH2B1, SLC5A11, SLC5A2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SNORA80C, SPN, SPNS1, SRCAP, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TGFB1I1, TLCD3B, TMEM219, TMEM265, TNRC6A, TRIM72, TUFM, VKORC1, VN1R3, XPO6, YPEL3, YPEL3-DT, ZG16, ZKSCAN2, ZKSCAN2-DT, ZNF267, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF747-DT, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843, AHSP, ALDOA, APOBR, AQP8, ARHGAP17, ARMC5, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BCKDK, BCL7C, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf82, C16orf92, CACNG3, CD19, CD2BP2, CD2BP2-DT, CDIPT, CDIPTOSP, CFAP119, CHP2, CLN3, CORO1A, CORO1A-AS1, COX6A2, CTF1, DCTPP1, DOC2A, EIF3C, EIF3CL, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, GSG1L, GTF3C1, HIRIP3, HS3ST4, HSD3B7, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAD, ITGAL, ITGAL-AS1, ITGAM, ITGAX, KAT8, KATNIP, KCTD13, KDM8, KIF22, KRBOX5, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02190, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC102723536, LOC102723708, LOC107983990, LOC108281183, LOC111365198, LOC112340391, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112352681, LOC112441444, LOC112441445, LOC112441446, LOC112441447, LOC112694756, LOC116276449, LOC116276450, LOC116276451, LOC116276452, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121587540, LOC121587541, LOC121587542, LOC121587543, LOC121847975, LOC121847976, LOC121847977, LOC121847978, LOC121847979, LOC121847980, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC125146442, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC126862329, LOC126862330, LOC126862331, LOC126862332, LOC126862333, LOC126862334, LOC126862335, LOC128462412, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:27323067-31204727
- GRCh38:
- Chr16:27311746-31193406
| ZNF747, ZNF747-DT, ZNF764, ZNF768, ZNF771, ZNF785, ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BCKDK, BCL7C, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CD19, CD2BP2, CD2BP2-DT, CDIPT, CDIPTOSP, CFAP119, CLN3, CORO1A, CORO1A-AS1, CTF1, DCTPP1, DOC2A, EIF3C, EIF3CL, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, GSG1L, GTF3C1, HIRIP3, HSD3B7, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAL, ITGAL-AS1, KAT8, KATNIP, KCTD13, KIF22, LAT, LOC100128079, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112352681, LOC112441444, LOC112441445, LOC112441446, LOC112694756, LOC116276452, LOC121587538, LOC121587539, LOC121587540, LOC121587541, LOC121587542, LOC121587543, LOC121847976, LOC121847977, LOC121847978, LOC121847979, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC125146442, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC126862329, LOC126862330, LOC128462412, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, LOC130058820, LOC130058821, LOC130058822, LOC130058823, LOC130058824, LOC130058825, LOC130058826, LOC130058827, LOC130058828, LOC130058829, LOC130058830, LOC130058831, LOC130058832, LOC130058833, LOC130058834, LOC130058835, LOC130058836, LOC130058837, LOC130058838, LOC130058839, LOC130058840, LOC130058841, LOC130058842, LOC130058843, LOC130058844, LOC130058845, LOC130058846, LOC130058847, LOC130058848, LOC130058849, LOC130058850, LOC130058851, LOC130058852, LOC130058853, LOC130058854, LOC130058855, LOC130058856, LOC130058857, LOC130058858, LOC130058859, LOC130058860, LOC130058861, LOC130058862, LOC130058863, LOC130058864, LOC130058865, LOC130058866, LOC130058867, LOC130058868, LOC130058869, LOC130058870, LOC130058871, LOC130058872, LOC130058873, LOC130058874, LOC130058875, LOC130058876, LOC130058877, LOC130058878, LOC130058879, LOC130058880, LOC130058881, LOC130058882, LOC130058883, LOC130058884, LOC130058885, LOC130058886, LOC130058887, LOC130058888, LOC130058889, LOC130058890, LOC130058891, LOC130058892, LOC130058893, LOC130058894, LOC130058895, LOC130058896, LOC730183, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4518, MIR4519, MIR4721, MIR6862-1, MIR6862-2, MIR762, MIR762HG, MVP, MVP-DT, MYL11, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB13, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, ORAI3, PAGR1, PHKG2, PPP4C, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, QPRT, RABEP2, RNF40, SBK1, SEPHS2, SEPTIN1, SETD1A, SEZ6L2, SGF29, SH2B1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SNORA80C, SPN, SPNS1, SRCAP, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, TMEM265, TUFM, VKORC1, XPO6, YPEL3, YPEL3-DT, ZG16, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:28072633-28595696
- GRCh38:
- Chr16:28061312-28584375
| APOBR, CLN3, EIF3CL, GSG1L, IL27, LOC125146435, LOC125146436, LOC126862326, LOC129390779, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, MIR6862-1, NPIPB6, NPIPB7, NUPR1, SBK1, SGF29, XPO6 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28305124-29542974
- GRCh38:
- Chr16:28293803-29531653
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SLX1B, SLX1B-SULT1A4, SPNS1, SULT1A1, SULT1A2, SULT1A4, TUFM | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28331687-29426399
- GRCh38:
- Chr16:28320366-29415078
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | See cases | Uncertain significance (Mar 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:28338667-29353391
- GRCh38:
- Chr16:28327346-29342070
| ATP2A1, APOBR, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | See cases | Pathogenic (Jan 13, 2012) | no assertion criteria provided |
| - GRCh38:
- Chr16:28351819-29325073
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | Schizophrenia | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28377432-30194753
- GRCh38:
- Chr16:28366111-30183432
| ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A-AS1, DOC2A, EIF3C, EIF3CL, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-1, MIR6862-2, MVP, MVP-DT, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16 | | See cases | Pathogenic (Feb 5, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:28403347-29182200
- GRCh38:
- Chr16:28392026-29170879
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC112340392, LOC112340393, LOC125146437, LOC126862326, LOC126862327, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | See cases | Uncertain significance (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:28404153-29182196
- GRCh38:
- Chr16:28392832-29170875
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC112340392, LOC112340393, LOC125146437, LOC126862326, LOC126862327, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | See cases | Pathogenic (Jan 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:28404153-30332014
- GRCh38:
- Chr16:28392832-30320693
| LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-2, MVP, MVP-DT, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB13, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16, ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A, CORO1A-AS1, DOC2A, EIF3C, EIF3CL, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804 | | See cases | Pathogenic (Nov 14, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:28404153-29331350
- GRCh38:
- Chr16:28392832-29320029
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | See cases | Pathogenic (Nov 4, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:28404153-29353391
- GRCh38:
- Chr16:28392832-29342070
| APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NFATC2IP-AS1, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM | | See cases | Pathogenic (Nov 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:28404153-30197341
- GRCh38:
- Chr16:28392832-30186020
| ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A, CORO1A-AS1, DOC2A, EIF3C, EIF3CL, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-2, MVP, MVP-DT, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16 | | See cases | Pathogenic (Oct 26, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:28468288-30306428
- GRCh38:
- Chr16:28456967-30295107
| ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A, CORO1A-AS1, DOC2A, EIF3C, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC102723708, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, LOC129390780, LOC129390781, LOC129390782, LOC129390783, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-2, MVP, MVP-DT, NFATC2IP, NFATC2IP-AS1, NPIPB11, NPIPB12, NPIPB13, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28486664-28489218
- GRCh38:
- Chr16:28475343-28477897
| CLN3 | | Neuronal ceroid lipofuscinosis | Uncertain significance (Jul 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28486664-28503100
- GRCh38:
- Chr16:28475343-28491779
| CLN3 | | Neuronal ceroid lipofuscinosis | Uncertain significance (Sep 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488632
- GRCh38:
- Chr16:28477311
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488637
- GRCh38:
- Chr16:28477316
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488650
- GRCh38:
- Chr16:28477329
| CLN3 | | Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488682
- GRCh38:
- Chr16:28477361
| CLN3 | | not provided, Neuronal ceroid lipofuscinosis 3 | Likely benign (Jun 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488726
- GRCh38:
- Chr16:28477405
| CLN3 | | Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488738
- GRCh38:
- Chr16:28477417
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, not provided, Neuronal ceroid lipofuscinosis 3
| Conflicting interpretations of pathogenicity (Jul 8, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488759
- GRCh38:
- Chr16:28477438
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488779
- GRCh38:
- Chr16:28477458
| CLN3 | | Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Mar 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488782
- GRCh38:
- Chr16:28477461
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488808
- GRCh38:
- Chr16:28477487
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488817-28489218
- GRCh38:
- Chr16:28477496-28477897
| CLN3 | | Neuronal ceroid lipofuscinosis | Uncertain significance (Oct 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488838
- GRCh38:
- Chr16:28477517
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Mar 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488845
- GRCh38:
- Chr16:28477524
| CLN3 | L437F, L359F, L413F, L383F, L337F | not provided | Uncertain significance (Apr 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488849
- GRCh38:
- Chr16:28477528
| CLN3 | C411W, C357W, C435W, C335W, C381W | Inborn genetic diseases, Neuronal ceroid lipofuscinosis | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488852
- GRCh38:
- Chr16:28477531
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Nov 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488863
- GRCh38:
- Chr16:28477542
| CLN3 | H431Y, H377Y, H407Y, H331Y, H353Y | Neuronal ceroid lipofuscinosis | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488866
- GRCh38:
- Chr16:28477545
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Jan 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488869
- GRCh38:
- Chr16:28477548
| CLN3 | P429S, P375S, P329S, P351S, P405S | not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
| Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488870
- GRCh38:
- Chr16:28477549
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Aug 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488878
- GRCh38:
- Chr16:28477557
| CLN3 | L402V, L426V, L348V, L372V, L326V | Neuronal ceroid lipofuscinosis | Uncertain significance (Sep 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488882
- GRCh38:
- Chr16:28477561
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Sep 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488882
- GRCh38:
- Chr16:28477561
| CLN3 | L325fs, L425fs, L371fs, L347fs, L401fs | Neuronal ceroid lipofuscinosis 3 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:28488885
- GRCh38:
- Chr16:28477564
| CLN3 | | Inborn genetic diseases, Neuronal ceroid lipofuscinosis | Likely benign (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488886-28488887
- GRCh38:
- Chr16:28477565-28477566
| CLN3 | S345fs, S369fs, S423fs, S323fs, S399fs | Neuronal ceroid lipofuscinosis | Uncertain significance (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488886
- GRCh38:
- Chr16:28477565
| CLN3 | S323L, S345L, S369L, S399L, S423L | Neuronal ceroid lipofuscinosis, Retinitis pigmentosa | Uncertain significance (Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488886
- GRCh38:
- Chr16:28477565
| CLN3 | S423*, S323*, S399*, S345*, S369* | Neuronal ceroid lipofuscinosis 3 | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488888
- GRCh38:
- Chr16:28477567
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488889
- GRCh38:
- Chr16:28477568
| CLN3 | L322P, L344P, L368P, L398P, L422P | Neuronal ceroid lipofuscinosis | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488891
- GRCh38:
- Chr16:28477570
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488892
- GRCh38:
- Chr16:28477571
| CLN3 | S421F, S367F, S321F, S397F, S343F | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis 3 | Uncertain significance (Nov 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488897
- GRCh38:
- Chr16:28477576
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488898
- GRCh38:
- Chr16:28477577
| CLN3 | G419E, G365E, G341E, G319E, G395E | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488904
- GRCh38:
- Chr16:28477583
| CLN3 | T339I, T363I, T317I, T417I, T393I | not provided | Uncertain significance (May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488905
- GRCh38:
- Chr16:28477584
| CLN3 | T417A, T339A, T317A, T363A, T393A | Neuronal ceroid lipofuscinosis | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488907
- GRCh38:
- Chr16:28477586
| CLN3 | D416G, D316G, D392G, D362G, D338G | Neuronal ceroid lipofuscinosis | Likely pathogenic (Jun 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488912
- GRCh38:
- Chr16:28477591
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488914
- GRCh38:
- Chr16:28477593
| CLN3 | I414V, I314V, I336V, I360V, I390V | Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3
| Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488920
- GRCh38:
- Chr16:28477599
| CLN3 | T412A, T388A, T334A, T312A, T358A | not provided, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
| Uncertain significance (Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488921
- GRCh38:
- Chr16:28477600
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Sep 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488924
- GRCh38:
- Chr16:28477603
| CLN3 | | Inborn genetic diseases, not specified, not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 | Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488925
- GRCh38:
- Chr16:28477604
| CLN3 | A310V, A332V, A356V, A386V, A410V | Neuronal ceroid lipofuscinosis | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488929
- GRCh38:
- Chr16:28477608
| CLN3 | M409V, M355V, M309V, M331V, M385V | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, not provided
| Uncertain significance (Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488939
- GRCh38:
- Chr16:28477618
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488940
- GRCh38:
- Chr16:28477619
| CLN3 | R305Q, R327Q, R351Q, R405Q, R381Q | Neuronal ceroid lipofuscinosis | Uncertain significance (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488941
- GRCh38:
- Chr16:28477620
| CLN3 | R405W, R351W, R305W, R327W, R381W | not provided, Retinitis pigmentosa, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Retinal dystrophy | Conflicting interpretations of pathogenicity (Jul 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488941
- GRCh38:
- Chr16:28477620
| CLN3 | | not specified | Likely benign (Sep 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488943
- GRCh38:
- Chr16:28477622
| CLN3 | H404R, H326R, H350R, H304R, H380R | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Inborn genetic diseases, not specified, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 | Benign/Likely benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488944
- GRCh38:
- Chr16:28477623
| CLN3 | H404Y, H304Y, H380Y, H326Y, H350Y | Neuronal ceroid lipofuscinosis, not provided | Uncertain significance (Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488944
- GRCh38:
- Chr16:28477623
| CLN3 | H404N, H326N, H350N, H304N, H380N | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Inborn genetic diseases, not specified, not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488945
- GRCh38:
- Chr16:28477624
| CLN3 | | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488949
- GRCh38:
- Chr16:28477628
| CLN3 | D302G, D324G, D348G, D378G, D402G | not provided | Uncertain significance (Apr 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488950
- GRCh38:
- Chr16:28477629
| CLN3 | D302N, D378N, D324N, D348N, D402N | Neuronal ceroid lipofuscinosis | Uncertain significance (Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488951
- GRCh38:
- Chr16:28477630
| CLN3 | S401R, S377R, S301R, S323R, S347R | Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
| Uncertain significance (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488954
- GRCh38:
- Chr16:28477633
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488954
- GRCh38:
- Chr16:28477633
| CLN3 | | not provided | Likely benign (Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488957
- GRCh38:
- Chr16:28477636
| CLN3 | | Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
| Pathogenic/Likely pathogenic (Oct 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488958
- GRCh38:
- Chr16:28477637
| CLN3 | | Neuronal ceroid lipofuscinosis | Pathogenic (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488959
- GRCh38:
- Chr16:28477638
| CLN3 | | Neuronal ceroid lipofuscinosis | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488961
- GRCh38:
- Chr16:28477640
| CLN3 | | not provided, Neuronal ceroid lipofuscinosis | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:28488963
- GRCh38:
- Chr16:28477642
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488965
- GRCh38:
- Chr16:28477644
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488966
- GRCh38:
- Chr16:28477645
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Mar 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488966
- GRCh38:
- Chr16:28477645
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Jul 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488970
- GRCh38:
- Chr16:28477649
| CLN3 | | not specified, Neuronal ceroid lipofuscinosis | Likely benign (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28488972
- GRCh38:
- Chr16:28477651
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28488973
- GRCh38:
- Chr16:28477652
| CLN3 | | not specified, Neuronal ceroid lipofuscinosis | Likely benign (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28489041
- GRCh38:
- Chr16:28477720
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Mar 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28489042
- GRCh38:
- Chr16:28477721
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28489044
- GRCh38:
- Chr16:28477723
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28489045
- GRCh38:
- Chr16:28477724
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28489045
- GRCh38:
- Chr16:28477724
| CLN3 | | Neuronal ceroid lipofuscinosis, not specified | Benign/Likely benign (Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28489045
- GRCh38:
- Chr16:28477724
| CLN3 | | not specified, Neuronal ceroid lipofuscinosis | Likely benign (Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28489047
- GRCh38:
- Chr16:28477726
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28489048
- GRCh38:
- Chr16:28477727
| CLN3 | | Neuronal ceroid lipofuscinosis | Likely benign (Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:28489050
- GRCh38:
- Chr16:28477729
| CLN3 | | not specified, Neuronal ceroid lipofuscinosis | Benign/Likely benign (Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28489056
- GRCh38:
- Chr16:28477735
| CLN3 | | not provided, Cone/cone-rod dystrophy | Pathogenic (Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:28489057
- GRCh38:
- Chr16:28477736
| CLN3 | | Neuronal ceroid lipofuscinosis | Pathogenic/Likely pathogenic (May 26, 2023) | criteria provided, multiple submitters, no conflicts |