1785[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 591101.	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 GRCh37: Chr19:8941823-13442041 GRCh38: Chr19:8831147-13331227	ACP5, ANGPTL6, ANGPTL8, AP1M2, ATG4D, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CDC37, CDKN2D, CNN1, COL5A3, DAND5, DHPS, DNASE2, DNM2, DNMT1, DOCK6, DOCK6-AS1, ECSIT, EIF3G, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXL12, FBXW9, FDX2, FDX2-ZGLP1, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, HSPC102, ICAM1, ICAM3, ICAM4, ICAM4-AS1, ICAM5, IER2, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LIMASI, LINC02926, LOC100505555, LOC105372270, LOC105372281, LOC107080555, LOC108663985, LOC110121441, LOC110121458, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC113939967, LOC116276501, LOC116276502, LOC116276503, LOC117038783, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC125371473, LOC125371474, LOC125371475, LOC125371476, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862848, LOC126862849, LOC126862850, LOC126862851, LOC126862852, LOC126862853, LOC126862854, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC129391057, LOC129391058, LOC129391059, LOC129391060, LOC129391061, LOC129391062, LOC129391063, LOC129391064, LOC129391065, LOC129391066, LOC130063443, LOC130063444, LOC130063445, LOC130063446, LOC130063447, LOC130063448, LOC130063449, LOC130063450, LOC130063451, LOC130063452, LOC130063453, LOC130063454, LOC130063455, LOC130063456, LOC130063457, LOC130063458, LOC130063459, LOC130063460, LOC130063461, LOC130063462, LOC130063463, LOC130063464, LOC130063465, LOC130063466, LOC130063467, LOC130063468, LOC130063469, LOC130063470, LOC130063471, LOC130063472, LOC130063473, LOC130063474, LOC130063475, LOC130063476, LOC130063477, LOC130063478, LOC130063479, LOC130063480, LOC130063481, LOC130063482, LOC130063483, LOC130063484, LOC130063485, LOC130063486, LOC130063487, LOC130063488, LOC130063489, LOC130063490, LOC130063491, LOC130063492, LOC130063493, LOC130063494, LOC130063495, LOC130063496, LOC130063497, LOC130063498, LOC130063499, LOC130063500, LOC130063501, LOC130063502, LOC130063503, LOC130063504, LOC130063505, LOC130063506, LOC130063507, LOC130063508, LOC130063509, LOC130063510, LOC130063511, LOC130063512, LOC130063513, LOC130063514, LOC130063515, LOC130063516, LOC130063517, LOC130063518, LOC130063519, LOC130063520, LOC130063521, LOC130063522, LOC130063523, LOC130063524, LOC130063525, LOC130063526, LOC130063527, LOC130063528, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, LOC130063537, LOC130063538, LOC130063539, LOC130063540, LOC130063541, LOC130063542, LOC130063543, LOC130063544, LOC130063545, LOC130063546, LOC130063547, LOC130063548, LOC130063549, LOC130063550, LOC130063551, LOC130063552, LOC130063553, LOC130063554, LOC130063555, LOC130063556, LOC130063557, LOC130063558, LOC130063559, LOC130063560, LOC130063561, LOC130063562, LOC130063563, LOC130063564, LOC130063565, LOC130063566, LOC130063567, LOC130063568, LOC130063569, LOC130063570, LOC130063571, LOC130063572, LOC130063573, LOC130063574, LOC130063575, LOC130063576, LOC130063577, LOC130063578, LOC130063579, LOC130063580, LOC130063581, LOC130063582, LOC130063583, LOC130063584, LOC130063585, LOC130063586, LOC130063587, LOC130063588, LOC130063589, LOC130063590, LOC130063591, LOC130063592, LOC130063593, LOC130063594, LOC130063595, LOC130063596, LOC130063597, LOC130063598, LOC130063599, LOC130063600, LOC130063601, LOC130063602, LOC130063603, LOC130063604, LOC130063605, LOC130063606, LOC130063607, LOC130063608, LOC130063609, LOC130063610, LOC130063611, LOC130063612, LOC130063613, LOC130063614, LOC130063615, LOC130063616, LOC130063617, LOC130063618, LOC130063619, LOC130063620, LOC130063621, LOC130063622, LOC130063623, LOC130063624, LOC130063625, LOC130063626, LOC130063627, LOC130063628, LOC130063629, LOC130063630, LOC130063631, LOC130063632, LOC130063633, LOC130063634, LOC130063635, LOC130063636, LOC130063637, LOC130063638, LOC130063639, LOC130063640, LOC130063641, LOC130063642, LOC130063643, LOC130063644, LOC130063645, LOC130063646, LOC130063647, LOC130063648, LOC130063649, LOC130063650, LOC130063651, LOC130063652, LOC130063653, LOC130063654, LOC130063655, LOC130063656, LOC130063657, LOC130063658, LOC130063659, LOC130063660, LOC130063661, LOC130063662, LOC130063663, LOC130063664, LOC130063665, LOC130063666, LOC130063667, LOC130063668, LOC130063669, LOC130063670, LOC130063671, LOC130063672, LOC130063673, LOC130063674, LOC130063675, LOC130063676, LOC130063677, LOC130063678, LOC130063679, LOC130063680, LOC130063681, LOC130063682, LOC130063683, LOC130063684, LOC130063685, LOC130063686, LOC130063687, LOC130063688, LOC130063689, LOC130063690, LOC130063691, LOC130063692, LOC130063693, LOC130063694, LOC130063695, LOC130063696, LOC130063697, LOC130063698, LOC130063699, LOC130063700, LOC130063701, LOC130063702, LOC130063703, LOC130063704, LOC130063705, LOC130063706, LOC130063707, LOC130063708, LOC130063709, LOC130063710, LOC130063711, LOC130063712, LOC130063713, LOC130063714, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719, LOC130063720, LOC130063721, LOC132090532, LYL1, MAN2B1, MAST1, MBD3L1, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR5589, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRPL4, MUC16, NACC1, NFIX, ODAD3, OLFM2, OR1M1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, P2RY11, PDE4A, PIN1, PIN1-DT, PLPPR2, PPAN, PPAN-P2RY11, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RDH8, RGL3, RNASEH2A, RTBDN, S1PR2, S1PR5, SHFL, SLC44A2, SMARCA4, SNORD105, SNORD105B, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, UBL5, WDR83, WDR83OS, YIPF2, ZGLP1, ZNF121, ZNF136, ZNF177, ZNF20, ZNF266, ZNF317, ZNF426, ZNF426-DT, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF699, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF846, ZNF878		See cases	Likely pathogenic (May 6, 2011)	no assertion criteria provided
Select item 1460772.	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 GRCh37: Chr19:9846119-11338677 GRCh38: Chr19:9735443-11228001	ANGPTL6, AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, COL5A3, DNM2, DNMT1, DOCK6, DOCK6-AS1, EIF3G, FBXL12, FDX2, FDX2-ZGLP1, ICAM1, ICAM3, ICAM4, ICAM4-AS1, ICAM5, ILF3, ILF3-DT, KANK2, KEAP1, KRI1, LDLR, LDLR-AS1, LIMASI, LOC100505555, LOC107080555, LOC110121441, LOC113939967, LOC116276501, LOC116276502, LOC125371474, LOC125371475, LOC125371476, LOC125371477, LOC126862852, LOC126862853, LOC126862854, LOC126862855, LOC126862856, LOC129391059, LOC129391060, LOC130063455, LOC130063456, LOC130063457, LOC130063458, LOC130063459, LOC130063460, LOC130063461, LOC130063462, LOC130063463, LOC130063464, LOC130063465, LOC130063466, LOC130063467, LOC130063468, LOC130063469, LOC130063470, LOC130063471, LOC130063472, LOC130063473, LOC130063474, LOC130063475, LOC130063476, LOC130063477, LOC130063478, LOC130063479, LOC130063480, LOC130063481, LOC130063482, LOC130063483, LOC130063484, LOC130063485, LOC130063486, LOC130063487, LOC130063488, LOC130063489, LOC130063490, LOC130063491, LOC130063492, LOC130063493, LOC130063494, LOC130063495, LOC130063496, LOC130063497, LOC130063498, LOC130063499, LOC130063500, LOC130063501, LOC130063502, LOC130063503, LOC130063504, LOC130063505, LOC130063506, LOC130063507, LOC130063508, LOC130063509, LOC130063510, LOC130063511, LOC130063512, LOC130063513, LOC130063514, LOC130063515, LOC130063516, LOC130063517, LOC130063518, LOC130063519, LOC130063520, LOC130063521, LOC130063522, LOC130063523, LOC130063524, LOC130063525, LOC130063526, LOC130063527, LOC130063528, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, LOC130063537, LOC130063538, LOC130063539, LOC130063540, LOC130063541, LOC130063542, LOC130063543, LOC130063544, LOC130063545, LOC130063546, LOC130063547, LOC130063548, LOC130063549, LOC130063550, LOC130063551, LOC130063552, LOC130063553, LOC130063554, LOC130063555, LOC130063556, LOC130063557, LOC130063558, LOC132090532, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR5589, MIR638, MIR6793, MIR6886, MRPL4, OLFM2, P2RY11, PDE4A, PIN1, PIN1-DT, PPAN, PPAN-P2RY11, QTRT1, RAVER1, RDH8, S1PR2, S1PR5, SHFL, SLC44A2, SMARCA4, SNORD105, SNORD105B, SPC24, TIMM29, TMED1, TYK2, UBL5, YIPF2, ZGLP1, ZNF846		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 1475703.	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 GRCh37: Chr19:10267082-11000364 GRCh38: Chr19:10156406-10889688	AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, DNM2, DNMT1, FDX2, FDX2-ZGLP1, ICAM1, ICAM3, ICAM4, ICAM4-AS1, ICAM5, ILF3, ILF3-DT, KEAP1, KRI1, LIMASI, LOC107080555, LOC116276502, LOC125371475, LOC125371476, LOC125371477, LOC126862854, LOC129391059, LOC129391060, LOC130063472, LOC130063473, LOC130063474, LOC130063475, LOC130063476, LOC130063477, LOC130063478, LOC130063479, LOC130063480, LOC130063481, LOC130063482, LOC130063483, LOC130063484, LOC130063485, LOC130063486, LOC130063487, LOC130063488, LOC130063489, LOC130063490, LOC130063491, LOC130063492, LOC130063493, LOC130063494, LOC130063495, LOC130063496, LOC130063497, LOC130063498, LOC130063499, LOC130063500, LOC130063501, LOC130063502, LOC130063503, LOC130063504, LOC130063505, LOC130063506, LOC130063507, LOC130063508, LOC130063509, LOC130063510, LOC130063511, LOC130063512, LOC130063513, LOC130063514, LOC130063515, LOC130063516, LOC130063517, LOC130063518, LOC130063519, LOC130063520, LOC130063521, LOC130063522, LOC130063523, LOC130063524, LOC130063525, LOC130063526, LOC130063527, LOC130063528, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, LOC130063537, LOC130063538, LOC130063539, LOC130063540, LOC130063541, LOC130063542, LOC130063543, LOC130063544, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR638, MIR6793, MRPL4, PDE4A, QTRT1, RAVER1, S1PR2, S1PR5, SLC44A2, TMED1, TYK2, ZGLP1		See cases	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 591114.	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 GRCh37: Chr19:10425934-14159806 GRCh38: Chr19:10315258-14048994	LOC130063608, LOC130063609, LOC130063610, LOC130063611, LOC130063612, LOC130063613, LOC130063614, LOC130063615, LOC130063616, LOC130063617, LOC130063618, LOC130063619, LOC130063620, LOC130063621, LOC130063622, LOC130063623, LOC130063624, LOC130063625, LOC130063626, LOC130063627, LOC130063628, LOC130063629, LOC130063630, LOC130063631, LOC130063632, LOC130063633, LOC130063634, LOC130063635, LOC130063636, LOC130063637, LOC130063638, LOC130063639, LOC130063640, LOC130063641, LOC130063642, LOC130063643, LOC130063644, LOC130063645, LOC130063646, LOC130063647, LOC130063648, LOC130063649, LOC130063650, LOC130063651, LOC130063652, LOC130063653, LOC130063654, LOC130063655, LOC130063656, LOC130063657, LOC130063658, LOC130063659, LOC130063660, LOC130063661, LOC130063662, LOC130063663, LOC130063664, LOC130063665, LOC130063666, LOC130063667, LOC130063668, LOC130063669, LOC130063670, LOC130063671, LOC130063672, LOC130063673, LOC130063674, LOC130063675, LOC130063676, LOC130063677, LOC130063678, LOC130063679, LOC130063680, LOC130063681, LOC130063682, LOC130063683, LOC130063684, LOC130063685, LOC130063686, LOC130063687, LOC130063688, LOC130063689, LOC130063690, LOC130063691, LOC130063692, LOC130063693, LOC130063694, LOC130063695, LOC130063696, LOC130063697, LOC130063698, LOC130063699, LOC130063700, LOC130063701, LOC130063702, LOC130063703, LOC130063704, LOC130063705, LOC130063706, LOC130063707, LOC130063708, LOC130063709, LOC130063710, LOC130063711, LOC130063712, LOC130063713, LOC130063714, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719, LOC130063720, LOC130063721, LOC130063722, LOC130063723, LOC130063724, LOC130063725, LOC130063726, LOC130063727, LOC130063728, LOC130063729, LOC130063730, LOC130063731, LOC130063732, LOC130063733, LOC130063734, LOC130063735, LOC130063736, LOC130063737, LOC130063738, LOC130063739, LOC130063740, LOC130063741, LOC130063742, LOC130063743, LOC130063744, LOC130063745, LOC130063746, LOC130063747, LOC130063748, LOC130063749, LOC130063750, LOC130063751, LOC130063752, LOC130063753, LOC130063754, LYL1, MAN2B1, MAST1, MIR1181, MIR1238, MIR181C, MIR181D, MIR199A1, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR4748, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRI1, NACC1, NANOS3, NFIX, ODAD3, PDE4A, PLPPR2, PODNL1, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RFX1, RGL3, RLN3, RNASEH2A, RTBDN, S1PR5, SLC44A2, SMARCA4, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, WDR83, WDR83OS, YIPF2, YJU2B, ZNF136, ZNF20, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878, ZSWIM4, ACP5, ANGPTL8, AP1M2, ATG4D, BEST2, BRME1, C19orf38, C19orf53, CACNA1A, CALR, CARM1, CC2D1A, CCDC159, CDC37, CDKN2D, CNN1, DAND5, DCAF15, DHPS, DNASE2, DNM2, DOCK6, DOCK6-AS1, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXW9, FDX2, FDX2-ZGLP1, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, HSPC102, ICAM3, IER2, IL27RA, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LINC02926, LOC105372281, LOC108663985, LOC110121441, LOC110121458, LOC111365163, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC116276503, LOC116276504, LOC116276505, LOC117038783, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC129391059, LOC129391060, LOC129391061, LOC129391062, LOC129391063, LOC129391064, LOC129391065, LOC129391066, LOC129391067, LOC129391068, LOC129391069, LOC129391070, LOC130063486, LOC130063487, LOC130063488, LOC130063489, LOC130063490, LOC130063491, LOC130063492, LOC130063493, LOC130063494, LOC130063495, LOC130063496, LOC130063497, LOC130063498, LOC130063499, LOC130063500, LOC130063501, LOC130063502, LOC130063503, LOC130063504, LOC130063505, LOC130063506, LOC130063507, LOC130063508, LOC130063509, LOC130063510, LOC130063511, LOC130063512, LOC130063513, LOC130063514, LOC130063515, LOC130063516, LOC130063517, LOC130063518, LOC130063519, LOC130063520, LOC130063521, LOC130063522, LOC130063523, LOC130063524, LOC130063525, LOC130063526, LOC130063527, LOC130063528, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, LOC130063537, LOC130063538, LOC130063539, LOC130063540, LOC130063541, LOC130063542, LOC130063543, LOC130063544, LOC130063545, LOC130063546, LOC130063547, LOC130063548, LOC130063549, LOC130063550, LOC130063551, LOC130063552, LOC130063553, LOC130063554, LOC130063555, LOC130063556, LOC130063557, LOC130063558, LOC130063559, LOC130063560, LOC130063561, LOC130063562, LOC130063563, LOC130063564, LOC130063565, LOC130063566, LOC130063567, LOC130063568, LOC130063569, LOC130063570, LOC130063571, LOC130063572, LOC130063573, LOC130063574, LOC130063575, LOC130063576, LOC130063577, LOC130063578, LOC130063579, LOC130063580, LOC130063581, LOC130063582, LOC130063583, LOC130063584, LOC130063585, LOC130063586, LOC130063587, LOC130063588, LOC130063589, LOC130063590, LOC130063591, LOC130063592, LOC130063593, LOC130063594, LOC130063595, LOC130063596, LOC130063597, LOC130063598, LOC130063599, LOC130063600, LOC130063601, LOC130063602, LOC130063603, LOC130063604, LOC130063605, LOC130063606, LOC130063607		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1530695.	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 GRCh37: Chr19:10430150-13888674 GRCh38: Chr19:10319474-13777860	LOC130063636, LOC130063637, LOC130063638, LOC130063639, LOC130063640, LOC130063641, LOC130063642, LOC130063643, LOC130063644, LOC130063645, LOC130063646, LOC130063647, LOC130063648, LOC130063649, LOC130063650, LOC130063651, LOC130063652, LOC130063653, LOC130063654, LOC130063655, LOC130063656, LOC130063657, LOC130063658, LOC130063659, LOC130063660, LOC130063661, LOC130063662, LOC130063663, LOC130063664, LOC130063665, LOC130063666, LOC130063667, LOC130063668, LOC130063669, LOC130063670, LOC130063671, LOC130063672, LOC130063673, LOC130063674, LOC130063675, LOC130063676, LOC130063677, LOC130063678, LOC130063679, LOC130063680, LOC130063681, LOC130063682, LOC130063683, LOC130063684, LOC130063685, LOC130063686, LOC130063687, LOC130063688, LOC130063689, LOC130063690, LOC130063691, LOC130063692, LOC130063693, LOC130063694, LOC130063695, LOC130063696, LOC130063697, LOC130063698, LOC130063699, LOC130063700, LOC130063701, LOC130063702, LOC130063703, LOC130063704, LOC130063705, LOC130063706, LOC130063707, LOC130063708, LOC130063709, LOC130063710, LOC130063711, LOC130063712, LOC130063713, LOC130063714, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719, LOC130063720, LOC130063721, LOC130063722, LOC130063723, LOC130063724, LOC130063725, LOC130063726, LYL1, MAN2B1, MAST1, MIR1181, MIR1238, MIR199A1, MIR4748, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRI1, NACC1, NFIX, ODAD3, PDE4A, PLPPR2, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RGL3, RNASEH2A, RTBDN, S1PR5, SLC44A2, SMARCA4, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, WDR83, WDR83OS, YIPF2, YJU2B, ZNF136, ZNF20, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878, ACP5, ANGPTL8, AP1M2, ATG4D, BEST2, C19orf38, C19orf53, CACNA1A, CALR, CARM1, CCDC159, CDC37, CDKN2D, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, DOCK6-AS1, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXW9, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, HSPC102, ICAM3, IER2, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LINC02926, LOC105372281, LOC108663985, LOC110121441, LOC110121458, LOC111365163, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC116276503, LOC117038783, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC129391059, LOC129391060, LOC129391061, LOC129391062, LOC129391063, LOC129391064, LOC129391065, LOC129391066, LOC129391067, LOC129391068, LOC130063487, LOC130063488, LOC130063489, LOC130063490, LOC130063491, LOC130063492, LOC130063493, LOC130063494, LOC130063495, LOC130063496, LOC130063497, LOC130063498, LOC130063499, LOC130063500, LOC130063501, LOC130063502, LOC130063503, LOC130063504, LOC130063505, LOC130063506, LOC130063507, LOC130063508, LOC130063509, LOC130063510, LOC130063511, LOC130063512, LOC130063513, LOC130063514, LOC130063515, LOC130063516, LOC130063517, LOC130063518, LOC130063519, LOC130063520, LOC130063521, LOC130063522, LOC130063523, LOC130063524, LOC130063525, LOC130063526, LOC130063527, LOC130063528, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, LOC130063537, LOC130063538, LOC130063539, LOC130063540, LOC130063541, LOC130063542, LOC130063543, LOC130063544, LOC130063545, LOC130063546, LOC130063547, LOC130063548, LOC130063549, LOC130063550, LOC130063551, LOC130063552, LOC130063553, LOC130063554, LOC130063555, LOC130063556, LOC130063557, LOC130063558, LOC130063559, LOC130063560, LOC130063561, LOC130063562, LOC130063563, LOC130063564, LOC130063565, LOC130063566, LOC130063567, LOC130063568, LOC130063569, LOC130063570, LOC130063571, LOC130063572, LOC130063573, LOC130063574, LOC130063575, LOC130063576, LOC130063577, LOC130063578, LOC130063579, LOC130063580, LOC130063581, LOC130063582, LOC130063583, LOC130063584, LOC130063585, LOC130063586, LOC130063587, LOC130063588, LOC130063589, LOC130063590, LOC130063591, LOC130063592, LOC130063593, LOC130063594, LOC130063595, LOC130063596, LOC130063597, LOC130063598, LOC130063599, LOC130063600, LOC130063601, LOC130063602, LOC130063603, LOC130063604, LOC130063605, LOC130063606, LOC130063607, LOC130063608, LOC130063609, LOC130063610, LOC130063611, LOC130063612, LOC130063613, LOC130063614, LOC130063615, LOC130063616, LOC130063617, LOC130063618, LOC130063619, LOC130063620, LOC130063621, LOC130063622, LOC130063623, LOC130063624, LOC130063625, LOC130063626, LOC130063627, LOC130063628, LOC130063629, LOC130063630, LOC130063631, LOC130063632, LOC130063633, LOC130063634, LOC130063635		See cases	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 1532506.	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 GRCh37: Chr19:10441331-11031228 GRCh38: Chr19:10330655-10920552	AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, DNM2, ICAM3, ILF3, ILF3-DT, KEAP1, KRI1, LOC125371477, LOC129391059, LOC129391060, LOC130063487, LOC130063488, LOC130063489, LOC130063490, LOC130063491, LOC130063492, LOC130063493, LOC130063494, LOC130063495, LOC130063496, LOC130063497, LOC130063498, LOC130063499, LOC130063500, LOC130063501, LOC130063502, LOC130063503, LOC130063504, LOC130063505, LOC130063506, LOC130063507, LOC130063508, LOC130063509, LOC130063510, LOC130063511, LOC130063512, LOC130063513, LOC130063514, LOC130063515, LOC130063516, LOC130063517, LOC130063518, LOC130063519, LOC130063520, LOC130063521, LOC130063522, LOC130063523, LOC130063524, LOC130063525, LOC130063526, LOC130063527, LOC130063528, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, LOC130063537, LOC130063538, LOC130063539, LOC130063540, LOC130063541, LOC130063542, LOC130063543, LOC130063544, MIR1181, MIR1238, MIR199A1, MIR4748, MIR638, MIR6793, PDE4A, QTRT1, RAVER1, S1PR5, SLC44A2, TMED1, TYK2		See cases	Likely pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 13028597.	NC_000019.10:g.10717821dup GRCh37: Chr19:10828492-10828493 GRCh38: Chr19:10717816-10717817	DNM2		not provided	Benign (Jul 21, 2021)	criteria provided, single submitter
Select item 3279708.	NM_001005361.3(DNM2):c.-153G>T GRCh37: Chr19:10828766 GRCh38: Chr19:10718090	DNM2, LOC130063529		Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3279719.	NM_001005361.3(DNM2):c.-122G>A GRCh37: Chr19:10828797 GRCh38: Chr19:10718121	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89210110.	NM_001005361.3(DNM2):c.-116C>T GRCh37: Chr19:10828803 GRCh38: Chr19:10718127	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 42258411.	NM_001005361.3(DNM2):c.-48_-47delinsTTGAGGGTCGCCCG GRCh37: Chr19:10828871-10828872 GRCh38: Chr19:10718195-10718196	DNM2, LOC130063529		not specified	Likely benign (Oct 20, 2016)	criteria provided, single submitter
Select item 64907512.	NC_000019.9:g.(?_10828899)_(10897402_?)dup GRCh37: Chr19:10828899-10897402 GRCh38: Chr19:10718223-10786726	DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638		Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 32797213.	NM_001005361.3(DNM2):c.-19G>T GRCh37: Chr19:10828900 GRCh38: Chr19:10718224	DNM2, LOC130063529		Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 195221914.	NM_001005361.3(DNM2):c.3G>T (p.Met1Ile) GRCh37: Chr19:10828921 GRCh38: Chr19:10718245	DNM2, LOC130063529	M1I	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 103251415.	NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser) GRCh37: Chr19:10828922 GRCh38: Chr19:10718246	DNM2, LOC130063529	G2S	Autosomal dominant centronuclear myopathy	Uncertain significance (Sep 28, 2018)	criteria provided, single submitter
Select item 83572716.	NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp) GRCh37: Chr19:10828923 GRCh38: Chr19:10718247	DNM2, LOC130063529	G2D	not provided, Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases	Uncertain significance (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42440117.	NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser) GRCh37: Chr19:10828926 GRCh38: Chr19:10718250	LOC130063529, DNM2	N3S	not provided, Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85927318.	NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys) GRCh37: Chr19:10828928 GRCh38: Chr19:10718252	DNM2, LOC130063529	R4C	not provided, Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200218819.	NM_001005361.3(DNM2):c.16A>G (p.Met6Val) GRCh37: Chr19:10828934 GRCh38: Chr19:10718258	DNM2, LOC130063529	M6V	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 100012820.	NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln) GRCh37: Chr19:10828937 GRCh38: Chr19:10718261	DNM2, LOC130063529	E7Q	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 105411321.	NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly) GRCh37: Chr19:10828938 GRCh38: Chr19:10718262	DNM2, LOC130063529	E7G	Charcot-Marie-Tooth disease dominant intermediate B, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162978122.	NM_001005361.3(DNM2):c.30C>T (p.Ile10=) GRCh37: Chr19:10828948 GRCh38: Chr19:10718272	LOC130063529, DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 64430423.	NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser) GRCh37: Chr19:10828949 GRCh38: Chr19:10718273	DNM2, LOC130063529	P11S	Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 250036524.	NM_001005361.3(DNM2):c.32C>T (p.Pro11Leu) GRCh37: Chr19:10828950 GRCh38: Chr19:10718274	DNM2, LOC130063529	P11L	not provided	Uncertain significance (Apr 12, 2023)	criteria provided, single submitter
Select item 193843425.	NM_001005361.3(DNM2):c.33G>T (p.Pro11=) GRCh37: Chr19:10828951 GRCh38: Chr19:10718275	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 46528926.	NM_001005361.3(DNM2):c.33G>A (p.Pro11=) GRCh37: Chr19:10828951 GRCh38: Chr19:10718275	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173204627.	NM_001005361.3(DNM2):c.34C>G (p.Leu12Val) GRCh37: Chr19:10828952 GRCh38: Chr19:10718276	DNM2, LOC130063529	L12V	Inborn genetic diseases	Uncertain significance (Sep 13, 2019)	criteria provided, single submitter
Select item 258018128.	NM_001005361.3(DNM2):c.37G>C (p.Val13Leu) GRCh37: Chr19:10828955 GRCh38: Chr19:10718279	DNM2, LOC130063529	V13L	Autosomal dominant centronuclear myopathy	Uncertain significance (Sep 19, 2023)	criteria provided, single submitter
Select item 193522229.	NM_001005361.3(DNM2):c.37G>A (p.Val13Ile) GRCh37: Chr19:10828955 GRCh38: Chr19:10718279	DNM2, LOC130063529	V13I	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 151066530.	NM_001005361.3(DNM2):c.41A>G (p.Asn14Ser) GRCh37: Chr19:10828959 GRCh38: Chr19:10718283	DNM2, LOC130063529	N14S	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 244097131.	NM_001005361.3(DNM2):c.44A>G (p.Lys15Arg) GRCh37: Chr19:10828962 GRCh38: Chr19:10718286	LOC130063529, DNM2	K15R	not provided	Uncertain significance (Nov 20, 2020)	criteria provided, single submitter
Select item 154025232.	NM_001005361.3(DNM2):c.45A>G (p.Lys15=) GRCh37: Chr19:10828963 GRCh38: Chr19:10718287	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 22, 2021)	criteria provided, single submitter
Select item 158490133.	NM_001005361.3(DNM2):c.46C>T (p.Leu16=) GRCh37: Chr19:10828964 GRCh38: Chr19:10718288	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 155901834.	NM_001005361.3(DNM2):c.48G>A (p.Leu16=) GRCh37: Chr19:10828966 GRCh38: Chr19:10718290	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 93795035.	NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu) GRCh37: Chr19:10828972 GRCh38: Chr19:10718296	DNM2, LOC130063529	D18E	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 77504736.	NM_001005361.3(DNM2):c.57C>T (p.Ala19=) GRCh37: Chr19:10828975 GRCh38: Chr19:10718299	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Nov 7, 2018)	criteria provided, single submitter
Select item 109174337.	NM_001005361.3(DNM2):c.63C>T (p.Ser21=) GRCh37: Chr19:10828981 GRCh38: Chr19:10718305	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 105247438.	NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys) GRCh37: Chr19:10828983 GRCh38: Chr19:10718307	DNM2, LOC130063529	S22C	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 219332339.	NM_001005361.3(DNM2):c.66C>T (p.Ser22=) GRCh37: Chr19:10828984 GRCh38: Chr19:10718308	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 150104240.	NM_001005361.3(DNM2):c.69C>A (p.Ile23=) GRCh37: Chr19:10828987 GRCh38: Chr19:10718311	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 258518041.	NM_001005361.3(DNM2):c.70G>A (p.Gly24Ser) GRCh37: Chr19:10828988 GRCh38: Chr19:10718312	DNM2, LOC130063529	G24S	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance	criteria provided, single submitter
Select item 86413042.	NM_001005361.3(DNM2):c.72C>T (p.Gly24=) GRCh37: Chr19:10828990 GRCh38: Chr19:10718314	DNM2, LOC130063529		not provided, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214151743.	NM_001005361.3(DNM2):c.77G>C (p.Ser26Thr) GRCh37: Chr19:10828995 GRCh38: Chr19:10718319	DNM2, LOC130063529	S26T	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 147042544.	NM_001005361.3(DNM2):c.79T>G (p.Cys27Gly) GRCh37: Chr19:10828997 GRCh38: Chr19:10718321	DNM2, LOC130063529	C27G	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 53383745.	NM_001005361.3(DNM2):c.81C>T (p.Cys27=) GRCh37: Chr19:10828999 GRCh38: Chr19:10718323	DNM2, LOC130063529		Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53383046.	NM_001005361.3(DNM2):c.83A>T (p.His28Leu) GRCh37: Chr19:10829001 GRCh38: Chr19:10718325	LOC130063529, DNM2	H28L	Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136213947.	NM_001005361.3(DNM2):c.88G>A (p.Asp30Asn) GRCh37: Chr19:10829006 GRCh38: Chr19:10718330	DNM2, LOC130063529	D30N	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 100675548.	NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu) GRCh37: Chr19:10829008 GRCh38: Chr19:10718332	DNM2, LOC130063529	D30E	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 21577649.	NM_001005361.3(DNM2):c.90C>T (p.Asp30=) GRCh37: Chr19:10829008 GRCh38: Chr19:10718332	LOC130063529, DNM2		Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B, not specified	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136337850.	NM_001005361.3(DNM2):c.95C>T (p.Pro32Leu) GRCh37: Chr19:10829013 GRCh38: Chr19:10718337	DNM2, LOC130063529	P32L	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 219172951.	NM_001005361.3(DNM2):c.99G>A (p.Gln33=) GRCh37: Chr19:10829017 GRCh38: Chr19:10718341	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 145111352.	NM_001005361.3(DNM2):c.102C>G (p.Ile34Met) GRCh37: Chr19:10829020 GRCh38: Chr19:10718344	LOC130063529, DNM2	I34M	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 39152953.	NM_001005361.3(DNM2):c.102C>A (p.Ile34=) GRCh37: Chr19:10829020 GRCh38: Chr19:10718344	DNM2, LOC130063529		Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202291554.	NM_001005361.3(DNM2):c.126C>A (p.Ala42=) GRCh37: Chr19:10829044 GRCh38: Chr19:10718368	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 164529755.	NM_001005361.3(DNM2):c.126C>T (p.Ala42=) GRCh37: Chr19:10829044 GRCh38: Chr19:10718368	DNM2, LOC130063529		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 48919656.	NM_001005361.3(DNM2):c.142C>T (p.Leu48=) GRCh37: Chr19:10829060 GRCh38: Chr19:10718384	DNM2, LOC130063529		Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B, not provided	Conflicting interpretations of pathogenicity (May 20, 2020)	criteria provided, conflicting interpretations
Select item 28810857.	NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser) GRCh37: Chr19:10829067 GRCh38: Chr19:10718391	DNM2, LOC130063529	N50S	Charcot-Marie-Tooth disease dominant intermediate B, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93810658.	NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly) GRCh37: Chr19:10829078 GRCh38: Chr19:10718402	DNM2, LOC130063529	R54G	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 53382659.	NM_001005361.3(DNM2):c.161+3G>A GRCh37: Chr19:10829082 GRCh38: Chr19:10718406	DNM2, LOC130063529, MIR638		Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 70376060.	NM_001005361.3(DNM2):c.161+12_161+29dup GRCh37: Chr19:10829083-10829084 GRCh38: Chr19:10718407-10718408	DNM2, LOC130063529, MIR638		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 140411261.	NM_001005361.3(DNM2):c.161+6C>T GRCh37: Chr19:10829085 GRCh38: Chr19:10718409	DNM2, LOC130063529, MIR638		Charcot-Marie-Tooth disease dominant intermediate B, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111868662.	NM_001005361.3(DNM2):c.161+7G>T GRCh37: Chr19:10829086 GRCh38: Chr19:10718410	DNM2, LOC130063529, MIR638		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Sep 28, 2018)	criteria provided, single submitter
Select item 201595563.	NM_001005361.3(DNM2):c.161+14G>A GRCh37: Chr19:10829093 GRCh38: Chr19:10718417	DNM2, LOC130063529, MIR638		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 153441664.	NM_001005361.3(DNM2):c.161+15C>G GRCh37: Chr19:10829094 GRCh38: Chr19:10718418	DNM2, LOC130063529, MIR638		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 67628565.	NM_001005361.3(DNM2):c.161+122C>A GRCh37: Chr19:10829201 GRCh38: Chr19:10718525	DNM2, LOC130063529		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 126060766.	NM_001005361.3(DNM2):c.161+228C>G GRCh37: Chr19:10829307 GRCh38: Chr19:10718631	DNM2		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 67842867.	NM_001005361.3(DNM2):c.161+248G>C GRCh37: Chr19:10829327 GRCh38: Chr19:10718651	DNM2		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 51194768.	NM_001005361.3(DNM2):c.162-16T>C GRCh37: Chr19:10870398 GRCh38: Chr19:10759722	DNM2		not specified, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205730169.	NM_001005361.3(DNM2):c.162-15C>T GRCh37: Chr19:10870399 GRCh38: Chr19:10759723	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 215103770.	NM_001005361.3(DNM2):c.162-7dup GRCh37: Chr19:10870400-10870401 GRCh38: Chr19:10759724-10759725	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Benign (Oct 9, 2022)	criteria provided, single submitter
Select item 218743671.	NM_001005361.3(DNM2):c.162-13C>T GRCh37: Chr19:10870401 GRCh38: Chr19:10759725	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 38935872.	NM_001005361.3(DNM2):c.162-12C>T GRCh37: Chr19:10870402 GRCh38: Chr19:10759726	DNM2		not provided	Likely benign (Feb 13, 2020)	criteria provided, single submitter
Select item 215429473.	NM_001005361.3(DNM2):c.162-9C>T GRCh37: Chr19:10870405 GRCh38: Chr19:10759729	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 51250574.	NM_001005361.3(DNM2):c.162-9C>G GRCh37: Chr19:10870405 GRCh38: Chr19:10759729	DNM2		not specified, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32797375.	NM_001005361.3(DNM2):c.162-9C>A GRCh37: Chr19:10870405 GRCh38: Chr19:10759729	DNM2		Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B	Conflicting interpretations of pathogenicity (Oct 3, 2021)	criteria provided, conflicting interpretations
Select item 145377576.	NM_001005361.3(DNM2):c.162-8C>T GRCh37: Chr19:10870406 GRCh38: Chr19:10759730	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 112843877.	NM_001005361.3(DNM2):c.162-8C>G GRCh37: Chr19:10870406 GRCh38: Chr19:10759730	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 69600678.	NM_001005361.3(DNM2):c.162-8C>A GRCh37: Chr19:10870406 GRCh38: Chr19:10759730	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jan 1, 2021)	criteria provided, single submitter
Select item 139410179.	NM_001005361.3(DNM2):c.162-7C>G GRCh37: Chr19:10870407 GRCh38: Chr19:10759731	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 50935880.	NM_001005361.3(DNM2):c.162-7C>T GRCh37: Chr19:10870407 GRCh38: Chr19:10759731	DNM2		not provided, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19510381.	NM_001005361.3(DNM2):c.162-7C>A GRCh37: Chr19:10870407 GRCh38: Chr19:10759731	DNM2		Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, not provided, not specified	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51123982.	NM_001005361.3(DNM2):c.162-6del GRCh37: Chr19:10870408 GRCh38: Chr19:10759732	DNM2		not specified, Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194160383.	NM_001005361.3(DNM2):c.162G>A (p.Arg54=) GRCh37: Chr19:10870414 GRCh38: Chr19:10759738	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 100286784.	NM_001005361.3(DNM2):c.162G>C (p.Arg54=) GRCh37: Chr19:10870414 GRCh38: Chr19:10759738	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 13397785.	NM_001005361.3(DNM2):c.164A>G (p.Asp55Gly) GRCh37: Chr19:10870416 GRCh38: Chr19:10759740	DNM2	D55G	not specified	not provided (Sep 19, 2013)	no assertion provided
Select item 208942986.	NM_001005361.3(DNM2):c.168C>T (p.Phe56=) GRCh37: Chr19:10870420 GRCh38: Chr19:10759744	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 148995287.	NM_001005361.3(DNM2):c.170_192del (p.Leu57fs) GRCh37: Chr19:10870421-10870443 GRCh38: Chr19:10759745-10759767	DNM2	L57fs	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Dec 1, 2020)	criteria provided, single submitter
Select item 108933188.	NM_001005361.3(DNM2):c.174C>T (p.Pro58=) GRCh37: Chr19:10870426 GRCh38: Chr19:10759750	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Aug 3, 2020)	criteria provided, single submitter
Select item 53383389.	NM_001005361.3(DNM2):c.177C>A (p.Arg59=) GRCh37: Chr19:10870429 GRCh38: Chr19:10759753	DNM2		Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 46528290.	NM_001005361.3(DNM2):c.177C>T (p.Arg59=) GRCh37: Chr19:10870429 GRCh38: Chr19:10759753	DNM2		Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases	Likely benign (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38103491.	NM_001005361.3(DNM2):c.183A>G (p.Ser61=) GRCh37: Chr19:10870435 GRCh38: Chr19:10759759	DNM2		not specified, Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases	Likely benign (Feb 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 192861792.	NM_001005361.3(DNM2):c.187A>G (p.Ile63Val) GRCh37: Chr19:10870439 GRCh38: Chr19:10759763	DNM2	I63V	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 158724193.	NM_001005361.3(DNM2):c.189C>T (p.Ile63=) GRCh37: Chr19:10870441 GRCh38: Chr19:10759765	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 13397894.	NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) GRCh37: Chr19:10870442 GRCh38: Chr19:10759766	DNM2	V64I	Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy, Peripheral neuropathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 171353495.	NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp) GRCh37: Chr19:10870448 GRCh38: Chr19:10759772	DNM2	R66W	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 56219496.	NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) GRCh37: Chr19:10870449 GRCh38: Chr19:10759773	DNM2	R66Q	Fetal akinesia-cerebral and retinal hemorrhage syndrome, Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy	Uncertain significance (Apr 4, 2018)	criteria provided, single submitter
Select item 65752397.	NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln) GRCh37: Chr19:10870452 GRCh38: Chr19:10759776	DNM2	R67Q	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 134879798.	NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe) GRCh37: Chr19:10870457 GRCh38: Chr19:10759781	DNM2	L69F	Charcot-Marie-Tooth disease dominant intermediate B	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 23820699.	NM_001005361.3(DNM2):c.210T>C (p.Ile70=) GRCh37: Chr19:10870462 GRCh38: Chr19:10759786	DNM2		Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease dominant intermediate B	Conflicting interpretations of pathogenicity (Nov 9, 2021)	criteria provided, conflicting interpretations
Select item 1592870100.	NM_001005361.3(DNM2):c.213G>A (p.Leu71=) GRCh37: Chr19:10870465 GRCh38: Chr19:10759789	DNM2		Charcot-Marie-Tooth disease dominant intermediate B	Likely benign (Feb 14, 2022)	criteria provided, single submitter

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