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Items: 1 to 100 of 209

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:67205220-81044553
GRCh38:
Chr17:69209079-83086677
LOC130061805, LOC130061806, LOC130061807, LOC130061808, LOC130061809, LOC130061810, LOC130061811, LOC130061812, LOC130061813, LOC130061814, LOC130061815, LOC130061816, LOC130061817, LOC130061818, LOC130061819, LOC130061820, LOC130061821, LOC130061822, LOC130061823, LOC130061824, LOC130061825, LOC130061826, LOC130061827, LOC130061828, LOC130061829, LOC130061830, LOC130061831, LOC130061832, LOC130061833, LOC130061834, LOC130061835, LOC130061836, LOC130061837, LOC130061838, LOC130061839, LOC130061840, LOC130061841, LOC130061842, LOC130061843, LOC130061844, LOC130061845, LOC130061846, LOC130061847, LOC130061848, LOC130061849, LOC130061850, LOC130061851, LOC130061852, LOC130061853, LOC130061854, LOC130061855, LOC130061856, LOC130061857, LOC130061858, LOC130061859, LOC130061860, LOC130061861, LOC130061862, LOC130061863, LOC130061864, LOC130061865, LOC130061866, LOC130061867, LOC130061868, LOC130061869, LOC130061870, LOC130061871, LOC130061872, LOC130061873, LOC130061874, LOC130061875, LOC130061876, LOC130061877, LOC130061878, LOC130061879, LOC130061880, LOC130061881, LOC130061882, LOC130061883, LOC130061884, LOC130061885, LOC130061886, LOC130061887, LOC130061888, LOC130061889, LOC130061890, LOC130061891, LOC130061892, LOC130061893, LOC130061894, LOC130061895, LOC130061896, LOC130061897, LOC130061898, LOC130061899, LOC130061900, LOC130061901, LOC130061902, LOC130061903, LOC130061904, LOC130061905, LOC130061906, LOC130061907, LOC130061908, LOC130061909, LOC130061910, LOC130061911, LOC130061912, LOC130061913, LOC130061914, LOC130061915, LOC130061916, LOC130061917, LOC130061918, LOC130061919, LOC130061920, LOC130061921, LOC130061922, LOC130061923, LOC130061924, LOC130061925, LOC130061926, LOC130061927, LOC130061928, LOC130061929, LOC130061930, LOC130061931, LOC130061932, LOC130061933, LOC130061934, LOC130061935, LOC130061936, LOC130061937, LOC130061938, LOC130061939, LOC130061940, LOC130061941, LOC130061942, LOC130061943, LOC130061944, LOC130061945, LOC130061946, LOC130061947, LOC130061948, LOC130061949, LOC130061950, LOC130061951, LOC130061952, LOC130061953, LOC130061954, LOC130061955, LOC130061956, LOC130061957, LOC130061958, LOC130061959, LOC130061960, LOC130061961, LOC130061962, LOC130061963, LOC130061964, LOC130061965, LOC130061966, LOC130061967, LOC130061968, LOC130061969, LOC130061970, LOC130061971, LOC130061972, LOC130061973, LOC130061974, LOC130061975, LOC130061976, LOC130061977, LOC130061978, LOC130061979, LOC130061980, LOC130061981, LOC130061982, LOC130061983, LOC130061984, LOC130061985, LOC130061986, LOC130061987, LOC130061988, LOC130061989, LOC130061990, LOC130061991, LOC130061992, LOC130061993, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LOC131477896, LOC131520253, LOC132090477, LOC132090478, LOC132090479, LOC132090480, LOC132090481, LOC132090482, LOC132090895, LOC132090896, LOC400622, LOC400627, LRRC45, MAFG, MAFG-AS1, MAP2K6, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRO1804, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RENO1, REVSEX, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SAP30BP-AS1, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, VCF1, WBP2, WDR45B, ZACN, ZNF750, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LACAT1, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01483, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371880, LOC105371899, LOC105371910, LOC105371912, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390927, LOC129390928, LOC129390929, LOC129390930, LOC129390931, LOC129390932, LOC129390933, LOC129390934, LOC129390935, LOC129390936, LOC129390937, LOC129390938, LOC129390939, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, LOC130061530, LOC130061531, LOC130061532, LOC130061533, LOC130061534, LOC130061535, LOC130061536, LOC130061537, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC130061632, LOC130061633, LOC130061634, LOC130061635, LOC130061636, LOC130061637, LOC130061638, LOC130061639, LOC130061640, LOC130061641, LOC130061642, LOC130061643, LOC130061644, LOC130061645, LOC130061646, LOC130061647, LOC130061648, LOC130061649, LOC130061650, LOC130061651, LOC130061652, LOC130061653, LOC130061654, LOC130061655, LOC130061656, LOC130061657, LOC130061658, LOC130061659, LOC130061660, LOC130061661, LOC130061662, LOC130061663, LOC130061664, LOC130061665, LOC130061666, LOC130061667, LOC130061668, LOC130061669, LOC130061670, LOC130061671, LOC130061672, LOC130061673, LOC130061674, LOC130061675, LOC130061676, LOC130061677, LOC130061678, LOC130061679, LOC130061680, LOC130061681, LOC130061682, LOC130061683, LOC130061684, LOC130061685, LOC130061686, LOC130061687, LOC130061688, LOC130061689, LOC130061690, LOC130061691, LOC130061692, LOC130061693, LOC130061694, LOC130061695, LOC130061696, LOC130061697, LOC130061698, LOC130061699, LOC130061700, LOC130061701, LOC130061702, LOC130061703, LOC130061704, LOC130061705, LOC130061706, LOC130061707, LOC130061708, LOC130061709, LOC130061710, LOC130061711, LOC130061712, LOC130061713, LOC130061714, LOC130061715, LOC130061716, LOC130061717, LOC130061718, LOC130061719, LOC130061720, LOC130061721, LOC130061722, LOC130061723, LOC130061724, LOC130061725, LOC130061726, LOC130061727, LOC130061728, LOC130061729, LOC130061730, LOC130061731, LOC130061732, LOC130061733, LOC130061734, LOC130061735, LOC130061736, LOC130061737, LOC130061738, LOC130061739, LOC130061740, LOC130061741, LOC130061742, LOC130061743, LOC130061744, LOC130061745, LOC130061746, LOC130061747, LOC130061748, LOC130061749, LOC130061750, LOC130061751, LOC130061752, LOC130061753, LOC130061754, LOC130061755, LOC130061756, LOC130061757, LOC130061758, LOC130061759, LOC130061760, LOC130061761, LOC130061762, LOC130061763, LOC130061764, LOC130061765, LOC130061766, LOC130061767, LOC130061768, LOC130061769, LOC130061770, LOC130061771, LOC130061772, LOC130061773, LOC130061774, LOC130061775, LOC130061776, LOC130061777, LOC130061778, LOC130061779, LOC130061780, LOC130061781, LOC130061782, LOC130061783, LOC130061784, LOC130061785, LOC130061786, LOC130061787, LOC130061788, LOC130061789, LOC130061790, LOC130061791, LOC130061792, LOC130061793, LOC130061794, LOC130061795, LOC130061796, LOC130061797, LOC130061798, LOC130061799, LOC130061800, LOC130061801, LOC130061802, LOC130061803, LOC130061804, AANAT, AATK, ABCA10, ABCA5, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr17:67912576-81048189
GRCh38:
Chr17:69916435-83102552
AANAT, AATK, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LACAT1, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371899, LOC105371910, LOC105371912, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390930, LOC129390931, LOC129390932, LOC129390933, LOC129390934, LOC129390935, LOC129390936, LOC129390937, LOC129390938, LOC129390939, LOC129390940, LOC129390941, LOC129390942, LOC129390943, LOC129390944, LOC129390945, LOC129390946, LOC129390947, LOC129390948, LOC129390949, LOC129390950, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC130061632, LOC130061633, LOC130061634, LOC130061635, LOC130061636, LOC130061637, LOC130061638, LOC130061639, LOC130061640, LOC130061641, LOC130061642, LOC130061643, LOC130061644, LOC130061645, LOC130061646, LOC130061647, LOC130061648, LOC130061649, LOC130061650, LOC130061651, LOC130061652, LOC130061653, LOC130061654, LOC130061655, LOC130061656, LOC130061657, LOC130061658, LOC130061659, LOC130061660, LOC130061661, LOC130061662, LOC130061663, LOC130061664, LOC130061665, LOC130061666, LOC130061667, LOC130061668, LOC130061669, LOC130061670, LOC130061671, LOC130061672, LOC130061673, LOC130061674, LOC130061675, LOC130061676, LOC130061677, LOC130061678, LOC130061679, LOC130061680, LOC130061681, LOC130061682, LOC130061683, LOC130061684, LOC130061685, LOC130061686, LOC130061687, LOC130061688, LOC130061689, LOC130061690, LOC130061691, LOC130061692, LOC130061693, LOC130061694, LOC130061695, LOC130061696, LOC130061697, LOC130061698, LOC130061699, LOC130061700, LOC130061701, LOC130061702, LOC130061703, LOC130061704, LOC130061705, LOC130061706, LOC130061707, LOC130061708, LOC130061709, LOC130061710, LOC130061711, LOC130061712, LOC130061713, LOC130061714, LOC130061715, LOC130061716, LOC130061717, LOC130061718, LOC130061719, LOC130061720, LOC130061721, LOC130061722, LOC130061723, LOC130061724, LOC130061725, LOC130061726, LOC130061727, LOC130061728, LOC130061729, LOC130061730, LOC130061731, LOC130061732, LOC130061733, LOC130061734, LOC130061735, LOC130061736, LOC130061737, LOC130061738, LOC130061739, LOC130061740, LOC130061741, LOC130061742, LOC130061743, LOC130061744, LOC130061745, LOC130061746, LOC130061747, LOC130061748, LOC130061749, LOC130061750, LOC130061751, LOC130061752, LOC130061753, LOC130061754, LOC130061755, LOC130061756, LOC130061757, LOC130061758, LOC130061759, LOC130061760, LOC130061761, LOC130061762, LOC130061763, LOC130061764, LOC130061765, LOC130061766, LOC130061767, LOC130061768, LOC130061769, LOC130061770, LOC130061771, LOC130061772, LOC130061773, LOC130061774, LOC130061775, LOC130061776, LOC130061777, LOC130061778, LOC130061779, LOC130061780, LOC130061781, LOC130061782, LOC130061783, LOC130061784, LOC130061785, LOC130061786, LOC130061787, LOC130061788, LOC130061789, LOC130061790, LOC130061791, LOC130061792, LOC130061793, LOC130061794, LOC130061795, LOC130061796, LOC130061797, LOC130061798, LOC130061799, LOC130061800, LOC130061801, LOC130061802, LOC130061803, LOC130061804, LOC130061805, LOC130061806, LOC130061807, LOC130061808, LOC130061809, LOC130061810, LOC130061811, LOC130061812, LOC130061813, LOC130061814, LOC130061815, LOC130061816, LOC130061817, LOC130061818, LOC130061819, LOC130061820, LOC130061821, LOC130061822, LOC130061823, LOC130061824, LOC130061825, LOC130061826, LOC130061827, LOC130061828, LOC130061829, LOC130061830, LOC130061831, LOC130061832, LOC130061833, LOC130061834, LOC130061835, LOC130061836, LOC130061837, LOC130061838, LOC130061839, LOC130061840, LOC130061841, LOC130061842, LOC130061843, LOC130061844, LOC130061845, LOC130061846, LOC130061847, LOC130061848, LOC130061849, LOC130061850, LOC130061851, LOC130061852, LOC130061853, LOC130061854, LOC130061855, LOC130061856, LOC130061857, LOC130061858, LOC130061859, LOC130061860, LOC130061861, LOC130061862, LOC130061863, LOC130061864, LOC130061865, LOC130061866, LOC130061867, LOC130061868, LOC130061869, LOC130061870, LOC130061871, LOC130061872, LOC130061873, LOC130061874, LOC130061875, LOC130061876, LOC130061877, LOC130061878, LOC130061879, LOC130061880, LOC130061881, LOC130061882, LOC130061883, LOC130061884, LOC130061885, LOC130061886, LOC130061887, LOC130061888, LOC130061889, LOC130061890, LOC130061891, LOC130061892, LOC130061893, LOC130061894, LOC130061895, LOC130061896, LOC130061897, LOC130061898, LOC130061899, LOC130061900, LOC130061901, LOC130061902, LOC130061903, LOC130061904, LOC130061905, LOC130061906, LOC130061907, LOC130061908, LOC130061909, LOC130061910, LOC130061911, LOC130061912, LOC130061913, LOC130061914, LOC130061915, LOC130061916, LOC130061917, LOC130061918, LOC130061919, LOC130061920, LOC130061921, LOC130061922, LOC130061923, LOC130061924, LOC130061925, LOC130061926, LOC130061927, LOC130061928, LOC130061929, LOC130061930, LOC130061931, LOC130061932, LOC130061933, LOC130061934, LOC130061935, LOC130061936, LOC130061937, LOC130061938, LOC130061939, LOC130061940, LOC130061941, LOC130061942, LOC130061943, LOC130061944, LOC130061945, LOC130061946, LOC130061947, LOC130061948, LOC130061949, LOC130061950, LOC130061951, LOC130061952, LOC130061953, LOC130061954, LOC130061955, LOC130061956, LOC130061957, LOC130061958, LOC130061959, LOC130061960, LOC130061961, LOC130061962, LOC130061963, LOC130061964, LOC130061965, LOC130061966, LOC130061967, LOC130061968, LOC130061969, LOC130061970, LOC130061971, LOC130061972, LOC130061973, LOC130061974, LOC130061975, LOC130061976, LOC130061977, LOC130061978, LOC130061979, LOC130061980, LOC130061981, LOC130061982, LOC130061983, LOC130061984, LOC130061985, LOC130061986, LOC130061987, LOC130061988, LOC130061989, LOC130061990, LOC130061991, LOC130061992, LOC130061993, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LOC131477896, LOC131520253, LOC132090477, LOC132090478, LOC132090479, LOC132090480, LOC132090481, LOC132090482, LOC132090895, LOC132090896, LOC400622, LOC400627, LRRC45, MAFG, MAFG-AS1, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RENO1, REVSEX, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SAP30BP-AS1, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, VCF1, WBP2, WDR45B, ZACN, ZNF750
See casesPathogenic
(Oct 23, 2012)
no assertion criteria provided
3.
GRCh37:
Chr17:74466973
GRCh38:
Chr17:76470891
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr17:74466989
GRCh38:
Chr17:76470907
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr17:74467004
GRCh38:
Chr17:76470922
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr17:74467012
GRCh38:
Chr17:76470930
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr17:74467013
GRCh38:
Chr17:76470931
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr17:74467017
GRCh38:
Chr17:76470935
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr17:74467073
GRCh38:
Chr17:76470991
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr17:74467096
GRCh38:
Chr17:76471014
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr17:74467109
GRCh38:
Chr17:76471027
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr17:74467125
GRCh38:
Chr17:76471043
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Mar 16, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr17:74467135
GRCh38:
Chr17:76471053
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr17:74467164
GRCh38:
Chr17:76471082
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr17:74467164
GRCh38:
Chr17:76471082
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr17:74467164
GRCh38:
Chr17:76471082
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr17:74467178
GRCh38:
Chr17:76471096
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr17:74467179
GRCh38:
Chr17:76471097
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr17:74467204
GRCh38:
Chr17:76471122
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr17:74467240
GRCh38:
Chr17:76471158
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr17:74467266
GRCh38:
Chr17:76471184
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr17:74467310
GRCh38:
Chr17:76471228
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr17:74467349
GRCh38:
Chr17:76471267
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr17:74467373
GRCh38:
Chr17:76471291
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:74467383-74467384
GRCh38:
Chr17:76471301-76471302
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:74467405
GRCh38:
Chr17:76471323
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr17:74467428
GRCh38:
Chr17:76471346
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr17:74467510
GRCh38:
Chr17:76471428
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr17:74467517
GRCh38:
Chr17:76471435
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr17:74467533
GRCh38:
Chr17:76471451
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr17:74467534
GRCh38:
Chr17:76471452
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr17:74467555
GRCh38:
Chr17:76471473
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr17:74467599
GRCh38:
Chr17:76471517
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr17:74467662
GRCh38:
Chr17:76471580
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr17:74467664
GRCh38:
Chr17:76471582
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr17:74467748
GRCh38:
Chr17:76471666
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr17:74467801
GRCh38:
Chr17:76471719
RHBDF2N800D, N829DInborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr17:74467810
GRCh38:
Chr17:76471728
RHBDF2Y826H, Y797Hnot providedUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:74467834
GRCh38:
Chr17:76471752
RHBDF2A818T, A789TPalmoplantar keratoderma-esophageal carcinoma syndromeConflicting interpretations of pathogenicity
(Mar 19, 2019)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr17:74467934
GRCh38:
Chr17:76471852
RHBDF2not provided, Palmoplantar keratoderma-esophageal carcinoma syndromeBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:74467952
GRCh38:
Chr17:76471870
RHBDF2not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:74468005
GRCh38:
Chr17:76471923
RHBDF2I732F, I761Fnot providedLikely benign
(Dec 16, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr17:74468033
GRCh38:
Chr17:76471951
RHBDF2N722K, N751KInborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jun 16, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:74468038
GRCh38:
Chr17:76471956
RHBDF2L750F, L721FPalmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr17:74468111
GRCh38:
Chr17:76472029
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr17:74468126
GRCh38:
Chr17:76472044
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr17:74468552
GRCh38:
Chr17:76472470
RHBDF2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr17:74468761
GRCh38:
Chr17:76472679
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndrome, not providedBenign
(Dec 20, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:74468798
GRCh38:
Chr17:76472716
RHBDF2not providedLikely benign
(Dec 20, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr17:74468800
GRCh38:
Chr17:76472718
RHBDF2A678T, A707TPalmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Nov 25, 2020)
criteria provided, single submitter
51.
GRCh37:
Chr17:74468839
GRCh38:
Chr17:76472757
RHBDF2A665T, A694TPalmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 7, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr17:74468845
GRCh38:
Chr17:76472763
RHBDF2R663C, R692CInborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr17:74468870
GRCh38:
Chr17:76472788
RHBDF2not providedLikely benign
(May 25, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr17:74468872
GRCh38:
Chr17:76472790
RHBDF2D683Y, D654YPalmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr17:74468920
GRCh38:
Chr17:76472838
RHBDF2V638M, V667MPalmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Apr 6, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr17:74468938
GRCh38:
Chr17:76472856
RHBDF2not providedLikely benign
(Sep 7, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr17:74469089
GRCh38:
Chr17:76473007
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr17:74469160
GRCh38:
Chr17:76473078
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndrome, not providedBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:74469185
GRCh38:
Chr17:76473103
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndrome, not providedBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:74469323
GRCh38:
Chr17:76473241
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr17:74469327
GRCh38:
Chr17:76473245
RHBDF2not provided, Palmoplantar keratoderma-esophageal carcinoma syndromeBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:74469406
GRCh38:
Chr17:76473324
RHBDF2C608W, C579WInborn genetic diseasesUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr17:74469779
GRCh38:
Chr17:76473697
RHBDF2M591V, M562VPalmoplantar keratoderma-esophageal carcinoma syndrome, not providedBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:74469796
GRCh38:
Chr17:76473714
RHBDF2H585R, H556RInborn genetic diseasesLikely benign
(Feb 16, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr17:74469835
GRCh38:
Chr17:76473753
RHBDF2not providedBenign
(Dec 9, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr17:74469835
GRCh38:
Chr17:76473753
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr17:74469909
GRCh38:
Chr17:76473827
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndrome, not providedBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:74469914
GRCh38:
Chr17:76473832
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:74469922
GRCh38:
Chr17:76473840
RHBDF2P546L, P575Lnot providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr17:74469960
GRCh38:
Chr17:76473878
RHBDF2not provided, Palmoplantar keratoderma-esophageal carcinoma syndromeBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:74469992
GRCh38:
Chr17:76473910
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr17:74470000
GRCh38:
Chr17:76473918
RHBDF2not providedBenign
(Oct 17, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:74470108
GRCh38:
Chr17:76474026
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr17:74470141
GRCh38:
Chr17:76474059
RHBDF2not providedLikely benign
(Sep 29, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:74470158
GRCh38:
Chr17:76474076
RHBDF2G511S, G540SPalmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, not provided
Conflicting interpretations of pathogenicity
(Feb 3, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr17:74470180
GRCh38:
Chr17:76474098
RHBDF2not providedLikely benign
(Jan 17, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr17:74470194
GRCh38:
Chr17:76474112
RHBDF2D528Y, D499YPalmoplantar keratoderma-esophageal carcinoma syndrome, not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr17:74470203
GRCh38:
Chr17:76474121
RHBDF2K525E, K496EPalmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, not provided
Conflicting interpretations of pathogenicity
(Jul 7, 2023)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr17:74470460
GRCh38:
Chr17:76474378
RHBDF2C487G, C516GInborn genetic diseasesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:74470468
GRCh38:
Chr17:76474386
RHBDF2R513Q, R484QInborn genetic diseasesUncertain significance
(Apr 11, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr17:74470523
GRCh38:
Chr17:76474441
RHBDF2R495W, R466WPalmoplantar keratoderma-esophageal carcinoma syndrome, not providedConflicting interpretations of pathogenicity
(Jul 7, 2023)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr17:74470539
GRCh38:
Chr17:76474457
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndrome, not providedBenign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:74470544
GRCh38:
Chr17:76474462
RHBDF2L488V, L459VPalmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Aug 12, 2021)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr17:74470800
GRCh38:
Chr17:76474718
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr17:74470804
GRCh38:
Chr17:76474722
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr17:74470813
GRCh38:
Chr17:76474731
RHBDF2S434L, S463Lnot providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr17:74470871
GRCh38:
Chr17:76474789
RHBDF2G444R, G415RInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
88.
GRCh37:
Chr17:74470879
GRCh38:
Chr17:76474797
RHBDF2R441Q, R412QPalmoplantar keratoderma-esophageal carcinoma syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr17:74471101
GRCh38:
Chr17:76475019
RHBDF2Palmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr17:74471145
GRCh38:
Chr17:76475063
RHBDF2not providedLikely benign
(Oct 5, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr17:74471150
GRCh38:
Chr17:76475068
RHBDF2A426T, A397TInborn genetic diseasesUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:74471174
GRCh38:
Chr17:76475092
RHBDF2not providedLikely benign
(Nov 8, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr17:74471195
GRCh38:
Chr17:76475113
RHBDF2V382I, V411IInborn genetic diseasesUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:74471196
GRCh38:
Chr17:76475114
RHBDF2not providedLikely benign
(Jun 9, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr17:74471198
GRCh38:
Chr17:76475116
RHBDF2F381V, F410VInborn genetic diseasesUncertain significance
(Jun 16, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr17:74471230
GRCh38:
Chr17:76475148
RHBDF2not specifiedBenign
(May 4, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:74471298
GRCh38:
Chr17:76475216
RHBDF2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr17:74472921
GRCh38:
Chr17:76476839
RHBDF2D369V, D398VPalmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 12, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr17:74472964
GRCh38:
Chr17:76476882
RHBDF2R355C, R384Cnot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:74472988
GRCh38:
Chr17:76476906
RHBDF2N376D, N347DPalmoplantar keratoderma-esophageal carcinoma syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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