GJA1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1509371.	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 GRCh37: Chr6:75092523-142361637 GRCh38: Chr6:74382807-142040500	ABRACL, AFG1L, AHI1, AHI1-DT, AK9, AKAP7, AKIRIN2, ALDH8A1, AMD1, ANKRD6, ARFGEF3, ARG1, ARHGAP18, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BACH2, BCKDHB, BCLAF1, BEND3, BVES, BVES-AS1, C6orf163, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CASC6, CASP8AP2, CCDC28A, CCDC28A-AS1, CCN2, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CENPW, CEP162, CEP57L1, CEP85L, CFAP206, CGA, CITED2, CLVS2, CNR1, COL10A1, COL12A1, COQ3, COX7A2, CRE2, CRYBG1, CT69, CTAGE9, CYB5R4, DCBLD1, DDO, DOP1A, DSE, ECHDC1, ECT2L, ELOVL4, ENPP1, ENPP3, EPB41L2, EPHA7, EYA4, FABP7, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FILIP1, FILNC1, FOXO3, FRK, FUT9, FYN, GABRR1, GABRR2, GJA1, GJA10, GJB7, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HBS1L, HDAC2, HDAC2-AS2, HDDC2, HEBP2, HECA, HEY2, HEY2-AS1, HINT3, HMGN3, HMGN3-AS1, HS3ST5, HSF2, HTR1B, HTR1E, IBTK, IFNGR1, IL20RA, IL22RA2, IMPG1, IRAK1BP1, KIAA0408, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LCA5, LCAL1, LIN28B, LIN28B-AS1, LINC00222, LINC00326, LINC01010, LINC01013, LINC01312, LINC01526, LINC01590, LINC01611, LINC01621, LINC01625, LINC02518, LINC02523, LINC02524, LINC02526, LINC02527, LINC02531, LINC02532, LINC02534, LINC02535, LINC02539, LINC02540, LINC02541, LINC02542, LINC02836, LINC02865, LINC02880, LINC02941, LINC03002, LINC03004, LNCPOIR, LOC100126584, LOC100287467, LOC101927314, LOC101927919, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102724646, LOC103352541, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC107986532, LOC108169207, LOC108228196, LOC108281144, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121132708, LOC121740657, LOC121740658, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC121740667, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC127407129, LOC128092253, LOC128559983, LOC128667231, LOC128669075, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC285762, LYRM2, MAN1A1, MANEA, MANEA-DT, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP3K7, MAP7, MARCKS, MCHR2, MCHR2-AS1, MCM9, MDN1, MDN1-AS1, ME1, MED23, MEI4, METTL24, MFSD4B, MICAL1, MIR10524, MIR2113, MIR3144, MIR3145, MIR3662, MIR3668, MIR4463, MIR4464, MIR4465, MIR4643, MIR548A2, MIR548AI, MIR548AJ1, MIR548B, MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTFR2, MTRES1, MYB, MYO6, NCOA7, NCOA7-AS1, NDUFAF4, NHEG1, NHSL1, NHSL1-AS1, NKAIN2, NR2E1, NT5DC1, NT5E, NUS1, OLIG3, OR2A4, ORC3, OSTM1, OSTM1-AS1, PBOV1, PDE7B, PDE7B-AS1, PDSS2, PERP, PEX7, PGM3, PHIP, PKIB, PLN, PM20D2, PNISR, PNISR-AS1, PNKY, PNRC1, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, PRSS35, PTPRK, PTPRK-AS1, QRSL1, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIPPLY2, RIPPLY2-CYB5R4, RNF146, RNF217, RNF217-AS1, RNGTT, ROS1, RPF2, RPS12, RRAGD, RSPH4A, RSPO3, RTN4IP1, RWDD1, RWDD2A, SAMD3, SCML4, SEC63, SENP6, SERINC1, SESN1, SGK1, SH3BGRL2, SIM1, SIM1-AS1, SIMALR, SLC16A10, SLC18B1, SLC22A16, SLC2A12, SLC35A1, SLC35D3, SLC35F1, SMIM28, SMIM8, SMLR1, SMPD2, SMPDL3A, SNAP91, SNHG5, SNORA33, SNORA40C, SNORD100, SNORD101, SNORD156, SNORD166, SNORD50A, SNORD50B, SNX14, SNX3, SOBP, SOGA3, SOGA3-KIAA0408, SPACA1, SRSF12, STX7, SYNCRIP, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TBPL1, TBX18, TBX18-AS1, TCF21, TENT5A, THEMIS, TMEM200A, TMEM244, TMEM30A, TMEM30A-DT, TNFAIP3, TPBG, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSG1, TSPYL1, TSPYL4, TSTD3, TTK, TUBE1, TXLNB, UBE2J1, UBE3D, UFL1, UFL1-AS1, USP45, VGLL2, VNN1, VNN2, VNN3, WAKMAR2, WASF1, ZBTB24, ZBTB24-DT, ZNF292, ZUP1		See cases	Pathogenic (Jul 5, 2011)	no assertion criteria provided
Select item 1506412.	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 GRCh37: Chr6:97057870-122482694 GRCh38: Chr6:96609994-122161548	AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, COL10A1, COQ3, CRE2, CRYBG1, DCBLD1, DDO, DSE, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FOXO3, FRK, FYN, GJA1, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HDAC2, HDAC2-AS2, HS3ST5, KLHL32, KPNA5, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02836, LINC02880, LNCPOIR, LOC100287467, LOC101927314, LOC101927919, LOC102724646, LOC105377924, LOC105377967, LOC105377975, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121109, LOC110121145, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC111365204, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC127407129, LOC128559983, LOC128667231, LOC285762, MAN1A1, MARCKS, MCHR2, MCHR2-AS1, MCM9, METTL24, MFSD4B, MICAL1, MIR2113, MIR3144, MIR548AI, MIR548B, MIR587, MMS22L, MROCKI, MTRES1, NDUFAF4, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PLN, PNISR, PNISR-AS1, PNKY, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, QRSL1, REV3L, RFPL4B, RFX6, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SIM1, SIM1-AS1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TBC1D32, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TSTD3, TUBE1, USP45, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1		See cases	Pathogenic (Aug 2, 2011)	no assertion criteria provided
Select item 1530883.	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 GRCh37: Chr6:106951594-126102365 GRCh38: Chr6:106503719-125781219	AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASF1A, BEND3, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, CLVS2, COL10A1, CRYBG1, DCBLD1, DDO, DSE, FABP7, FAM162B, FAM184A, FAM229B, FIG4, FOXO3, FRK, FYN, GJA1, GOPC, GPR6, GPRC6A, GTF3C6, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HS3ST5, HSF2, KPNA5, LAMA4, LAMA4-AS1, LINC00222, LINC02518, LINC02523, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102724646, LOC105377967, LOC105377975, LOC110121046, LOC110121188, LOC110121273, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC127407129, LOC128559983, LOC128667231, LOC285762, MAN1A1, MARCKS, MCM9, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR587, MROCKI, MTRES1, NCOA7, NKAIN2, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PKIB, PLN, PPIL6, QRSL1, REV3L, RFPL4B, RFX6, RNF217, RNF217-AS1, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SERINC1, SESN1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SMPDL3A, SNORA40C, SNORD166, SNX3, SOBP, TBC1D32, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1		See cases	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 574864.	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 GRCh37: Chr6:109266102-132388860 GRCh38: Chr6:108944899-132067720	AK9, AKAP7, AMD1, ARG1, ARHGAP18, ARMC2, ASF1A, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CCN6, CD164, CDC40, CDK19, CENPW, CEP57L1, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DDO, DSE, ECHDC1, ENPP1, ENPP3, EPB41L2, FABP7, FAM162B, FAM184A, FAM229B, FIG4, FRK, FYN, GJA1, GOPC, GPR6, GPRC6A, GTF3C6, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LINC02518, LINC02523, LINC02527, LINC02534, LINC02541, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102724646, LOC105377967, LOC105377975, LOC108228196, LOC110121046, LOC110121188, LOC110121273, LOC111365199, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC114803478, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC127407129, LOC128559983, LOC128667231, LOC285762, MAN1A1, MARCKS, MCM9, MED23, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR548H5, MIR588, MROCKI, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, OR2A4, PKIB, PLN, PPIL6, PTPRK, PTPRK-AS1, REV3L, RFPL4B, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RPF2, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SESN1, SLC16A10, SLC22A16, SLC35F1, SMLR1, SMPD2, SMPDL3A, SNORA40C, SNORD166, SOGA3, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 584425.	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 GRCh37: Chr6:115922394-128835469 GRCh38: Chr6:115601230-128514324	ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, KIAA0408, KPNA5, LINC02523, LINC02534, LOC100126584, LOC100287467, LOC101927919, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121740665, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC127407129, LOC128667231, LOC285762, MAN1A1, MCM9, MIR3144, MIR548B, MIR588, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SERINC1, SLC35F1, SMPDL3A, SOGA3, SOGA3-KIAA0408, TBC1D32, THEMIS, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 17032306.	Single allele GRCh38: Chr6:115941808-133892653	AKAP7, ARG1, ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CENPW, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DSE, ECHDC1, ENPP1, ENPP3, EPB41L2, EYA4, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LINC00326, LINC01013, LINC01312, LINC02523, LOC100126584, LOC100287467, LOC101927919, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC111365199, LOC111413038, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121740665, LOC121740666, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC127407129, LOC128667231, LOC285762, MAN1A1, MCM9, MED23, MIR3144, MIR548AJ1, MIR548B, MIR548H5, MIR588, MOXD1, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, OR2A4, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RPS12, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC18B1, SLC35F1, SMLR1, SMPDL3A, SNORA33, SNORD100, SNORD101, SOGA3, SOGA3-KIAA0408, STX7, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TCF21, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, VNN1, VNN2, VNN3, ZUP1		Interstitial 6q microdeletion syndrome	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 1486587.	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 GRCh37: Chr6:117928310-127021125 GRCh38: Chr6:117607147-126699980	ASF1A, CENPW, CEP85L, CLVS2, FABP7, FAM184A, GJA1, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, LINC02523, LOC100126584, LOC101927919, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC116183067, LOC116183068, LOC121132705, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC285762, MAN1A1, MCM9, MIR3144, MIR548B, MIR588, NCOA7, NCOA7-AS1, NKAIN2, NUS1, PKIB, PLN, RNF217, RNF217-AS1, SERINC1, SLC35F1, SMPDL3A, TBC1D32, TPD52L1, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11		See cases	Pathogenic (Oct 7, 2011)	no assertion criteria provided
Select item 584438.	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1 GRCh37: Chr6:119296180-126034453 GRCh38: Chr6:118975015-125713307	PKIB, RNF217, RNF217-AS1, SERINC1, SMPDL3A, TBC1D32, TPD52L1, TRDN, TRDN-AS1, CLVS2, FABP7, FAM184A, GJA1, HDDC2, HEY2-AS1, HSF2, LINC02523, LOC100126584, LOC105377975, LOC116183067, LOC116183068, LOC121132705, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC285762, MAN1A1, MIR3144, MIR548B, NKAIN2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1463809.	GRCh38/hg38 6q22.31(chr6:120977382-121468709)x3 GRCh37: Chr6:121298528-121789855 GRCh38: Chr6:120977382-121468709	GJA1, TBC1D32		See cases	Uncertain significance (Feb 18, 2011)	no assertion criteria provided
Select item 90485310.	NM_000165.5(GJA1):c.-197T>G GRCh37: Chr6:121756798 GRCh38: Chr6:121435652	GJA1		Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1, Syndactyly type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35515411.	NM_000165.5(GJA1):c.-188G>T GRCh37: Chr6:121756807 GRCh38: Chr6:121435661	GJA1		Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35515512.	NM_000165.5(GJA1):c.-161G>T GRCh37: Chr6:121756834 GRCh38: Chr6:121435688	GJA1		Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35515613.	NM_000165.5(GJA1):c.-135C>T GRCh37: Chr6:121756860 GRCh38: Chr6:121435714	GJA1		Syndactyly type 3, Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90646914.	NM_000165.5(GJA1):c.-87C>T GRCh37: Chr6:121756908 GRCh38: Chr6:121435762	GJA1		Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1, Syndactyly type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35515715.	NM_000165.5(GJA1):c.-67C>G GRCh37: Chr6:121756928 GRCh38: Chr6:121435782	GJA1		Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Syndactyly type 3, not provided	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 123224916.	NM_000165.5(GJA1):c.-17+50C>T GRCh37: Chr6:121757028 GRCh38: Chr6:121435882	GJA1		not provided	Benign (May 18, 2021)	criteria provided, single submitter
Select item 128882617.	NM_000165.5(GJA1):c.-17+93T>G GRCh37: Chr6:121757071 GRCh38: Chr6:121435925	GJA1		not provided	Benign (May 17, 2021)	criteria provided, single submitter
Select item 120033718.	NM_000165.5(GJA1):c.-16-12T>C GRCh37: Chr6:121767966 GRCh38: Chr6:121446820	GJA1		not provided	Likely benign (May 19, 2020)	criteria provided, single submitter
Select item 35515819.	NM_000165.5(GJA1):c.-16-12T>A GRCh37: Chr6:121767966 GRCh38: Chr6:121446820	GJA1		Syndactyly type 3, Oculodentodigital dysplasia, not provided, Hypoplastic left heart syndrome 1	Conflicting interpretations of pathogenicity (Oct 28, 2019)	criteria provided, conflicting interpretations
Select item 162870420.	NM_000165.5(GJA1):c.15C>T (p.Ser5=) GRCh37: Chr6:121768008 GRCh38: Chr6:121446862	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Dec 10, 2021)	criteria provided, single submitter
Select item 165832421.	NM_000165.5(GJA1):c.18C>T (p.Ala6=) GRCh37: Chr6:121768011 GRCh38: Chr6:121446865	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 20346722.	NM_000165.5(GJA1):c.23G>T (p.Gly8Val) GRCh37: Chr6:121768016 GRCh38: Chr6:121446870	GJA1	G8V	Autosomal dominant palmoplantar keratoderma and congenital alopecia	Pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 2966823.	NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) GRCh37: Chr6:121768024 GRCh38: Chr6:121446878	GJA1	L11F	Oculodentodigital dysplasia	Pathogenic (Jun 1, 2011)	no assertion criteria provided
Select item 1699324.	NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) GRCh37: Chr6:121768025 GRCh38: Chr6:121446879	GJA1	L11P	Oculodentodigital dysplasia	Pathogenic (May 1, 2006)	no assertion criteria provided
Select item 242880625.	NM_000165.5(GJA1):c.37A>G (p.Lys13Glu) GRCh37: Chr6:121768030 GRCh38: Chr6:121446884	GJA1	K13E	not provided	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 1698226.	NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser) GRCh37: Chr6:121768043 GRCh38: Chr6:121446897	GJA1	Y17S	Oculodentodigital dysplasia	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 1698327.	NM_000165.5(GJA1):c.52T>C (p.Ser18Pro) GRCh37: Chr6:121768045 GRCh38: Chr6:121446899	GJA1	S18P	Oculodentodigital dysplasia	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 94106028.	NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) GRCh37: Chr6:121768046 GRCh38: Chr6:121446900	GJA1	S18*	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 1698429.	NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) GRCh37: Chr6:121768054 GRCh38: Chr6:121446908	GJA1	G21R	Oculodentodigital dysplasia	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 84419030.	NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) GRCh37: Chr6:121768057 GRCh38: Chr6:121446911	GJA1	G22R	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 1698531.	NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) GRCh37: Chr6:121768058 GRCh38: Chr6:121446912	GJA1	G22E	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 165404632.	NM_000165.5(GJA1):c.66G>A (p.Gly22=) GRCh37: Chr6:121768059 GRCh38: Chr6:121446913	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 98618333.	NM_000165.5(GJA1):c.75G>C (p.Trp25Cys) GRCh37: Chr6:121768068 GRCh38: Chr6:121446922	GJA1	W25C	Inborn genetic diseases, not provided	Pathogenic/Likely pathogenic (Jun 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 208615134.	NM_000165.5(GJA1):c.81A>G (p.Ser27_Val28=) GRCh37: Chr6:121768074 GRCh38: Chr6:121446928	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 98920235.	NM_000165.5(GJA1):c.93T>G (p.Ile31Met) GRCh37: Chr6:121768086 GRCh38: Chr6:121446940	GJA1	I31M	Oculodentodigital dysplasia	Pathogenic	criteria provided, single submitter
Select item 1699536.	NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) GRCh37: Chr6:121768090 GRCh38: Chr6:121446944	GJA1	R33*	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Jul 1, 2006)	no assertion criteria provided
Select item 158031137.	NM_000165.5(GJA1):c.99A>G (p.Arg33=) GRCh37: Chr6:121768092 GRCh38: Chr6:121446946	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 216951638.	NM_000165.5(GJA1):c.113G>A (p.Gly38Glu) GRCh37: Chr6:121768106 GRCh38: Chr6:121446960	GJA1	G38E	Oculodentodigital dysplasia, autosomal recessive	Likely pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 52209939.	NM_000165.5(GJA1):c.113G>C (p.Gly38Ala) GRCh37: Chr6:121768106 GRCh38: Chr6:121446960	GJA1	G38A	Inborn genetic diseases	Likely pathogenic (Oct 6, 2017)	criteria provided, single submitter
Select item 57630040.	NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) GRCh37: Chr6:121768109-121768120 GRCh38: Chr6:121446963-121446974	GJA1		Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 138621441.	NM_000165.5(GJA1):c.119_121del (p.Ala40del) GRCh37: Chr6:121768111-121768113 GRCh38: Chr6:121446965-121446967	GJA1	A40del	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Oct 11, 2021)	criteria provided, single submitter
Select item 43532342.	NM_000165.5(GJA1):c.119C>T (p.Ala40Val) GRCh37: Chr6:121768112 GRCh38: Chr6:121446966	GJA1	A40V	Autosomal dominant palmoplantar keratoderma and congenital alopecia, Atrioventricular septal defect 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Craniometaphyseal dysplasia, autosomal recessive, Oculodentodigital dysplasia, autosomal recessive, Syndactyly type 3, Erythrokeratodermia variabilis et progressiva 3, Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162641943.	NM_000165.5(GJA1):c.120G>A (p.Ala40=) GRCh37: Chr6:121768113 GRCh38: Chr6:121446967	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 90414144.	NM_000165.5(GJA1):c.129A>G (p.Ser43=) GRCh37: Chr6:121768122 GRCh38: Chr6:121446976	GJA1		Oculodentodigital dysplasia, Syndactyly type 3, Hypoplastic left heart syndrome 1	Uncertain significance (Feb 28, 2018)	criteria provided, single submitter
Select item 20346945.	NM_000165.5(GJA1):c.131C>T (p.Ala44Val) GRCh37: Chr6:121768124 GRCh38: Chr6:121446978	GJA1	A44V	Erythrokeratodermia variabilis et progressiva 3, Oculodentodigital dysplasia, autosomal recessive	Pathogenic/Likely pathogenic (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47021346.	NM_000165.5(GJA1):c.140A>T (p.Asp47Val) GRCh37: Chr6:121768133 GRCh38: Chr6:121446987	GJA1	D47V	not provided, Oculodentodigital dysplasia, autosomal recessive	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102858647.	NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) GRCh37: Chr6:121768135 GRCh38: Chr6:121446989	GJA1	E48K	Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 164631648.	NM_000165.5(GJA1):c.150T>A (p.Ser50=) GRCh37: Chr6:121768143 GRCh38: Chr6:121446997	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Aug 20, 2021)	criteria provided, single submitter
Select item 211430149.	NM_000165.5(GJA1):c.152C>G (p.Ala51Gly) GRCh37: Chr6:121768145 GRCh38: Chr6:121446999	GJA1	A51G	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 1698650.	NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) GRCh37: Chr6:121768146-121768147 GRCh38: Chr6:121447000-121447001	GJA1		Oculodentodigital dysplasia	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 214849351.	NM_000165.5(GJA1):c.158G>A (p.Arg53His) GRCh37: Chr6:121768151 GRCh38: Chr6:121447005	GJA1	R53H	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 105191452.	NM_000165.5(GJA1):c.162dup (p.Asn55Ter) GRCh37: Chr6:121768154-121768155 GRCh38: Chr6:121447008-121447009	GJA1	N55*	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 59614553.	NM_000165.5(GJA1):c.164A>G (p.Asn55Ser) GRCh37: Chr6:121768157 GRCh38: Chr6:121447011	GJA1	N55S	not provided	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 198182354.	NM_000165.5(GJA1):c.180T>C (p.Gly60_Cys61=) GRCh37: Chr6:121768173 GRCh38: Chr6:121447027	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 171521455.	NM_000165.5(GJA1):c.187A>G (p.Asn63Asp) GRCh37: Chr6:121768180 GRCh38: Chr6:121447034	GJA1	N63D	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 98581556.	NM_000165.5(GJA1):c.187A>C (p.Asn63His) GRCh37: Chr6:121768180 GRCh38: Chr6:121447034	GJA1	N63H	Inborn genetic diseases	Uncertain significance (Apr 15, 2020)	criteria provided, single submitter
Select item 157728257.	NM_000165.5(GJA1):c.189T>C (p.Asn63=) GRCh37: Chr6:121768182 GRCh38: Chr6:121447036	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 147809458.	NM_000165.5(GJA1):c.189T>G (p.Asn63Lys) GRCh37: Chr6:121768182 GRCh38: Chr6:121447036	GJA1	N63K	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 114224759.	NM_000165.5(GJA1):c.192C>T (p.Val64=) GRCh37: Chr6:121768185 GRCh38: Chr6:121447039	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 131081960.	NM_000165.5(GJA1):c.195C>T (p.Cys65=) GRCh37: Chr6:121768188 GRCh38: Chr6:121447042	GJA1		not provided	Uncertain significance (Dec 6, 2019)	criteria provided, single submitter
Select item 134550861.	NM_000165.5(GJA1):c.196T>C (p.Tyr66His) GRCh37: Chr6:121768189 GRCh38: Chr6:121447043	GJA1	Y66H	Oculodentodigital dysplasia, autosomal recessive	Likely pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 130673862.	NM_000165.5(GJA1):c.201C>T (p.Asp67=) GRCh37: Chr6:121768194 GRCh38: Chr6:121447048	GJA1		not provided	Uncertain significance (Jul 3, 2019)	criteria provided, single submitter
Select item 1699763.	NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) GRCh37: Chr6:121768219 GRCh38: Chr6:121447073	GJA1	R76S	not provided, Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 1699664.	NM_000165.5(GJA1):c.227G>A (p.Arg76His) GRCh37: Chr6:121768220 GRCh38: Chr6:121447074	GJA1	R76H	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Mar 1, 2004)	no assertion criteria provided
Select item 149235965.	NM_000165.5(GJA1):c.246C>G (p.Ile82Met) GRCh37: Chr6:121768239 GRCh38: Chr6:121447093	GJA1	I82M	Oculodentodigital dysplasia, autosomal recessive	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 169303366.	NM_000165.5(GJA1):c.252T>A (p.Phe84Leu) GRCh37: Chr6:121768245 GRCh38: Chr6:121447099	GJA1	F84L	not provided, Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147630767.	NM_000165.5(GJA1):c.256T>A (p.Ser86Thr) GRCh37: Chr6:121768249 GRCh38: Chr6:121447103	GJA1	S86T	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 197484968.	NM_000165.5(GJA1):c.264C>T (p.Pro88_Thr89=) GRCh37: Chr6:121768257 GRCh38: Chr6:121447111	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 35515969.	NM_000165.5(GJA1):c.270C>G (p.Leu90=) GRCh37: Chr6:121768263 GRCh38: Chr6:121447117	GJA1		Syndactyly type 3, Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 171216270.	NM_000165.5(GJA1):c.284A>G (p.His95Arg) GRCh37: Chr6:121768277 GRCh38: Chr6:121447131	GJA1	H95R	not provided	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 1698871.	NM_000165.5(GJA1):c.286G>A (p.Val96Met) GRCh37: Chr6:121768279 GRCh38: Chr6:121447133	GJA1	V96M	Oculodentodigital dysplasia	Pathogenic (Jun 1, 2004)	no assertion criteria provided
Select item 47021472.	NM_000165.5(GJA1):c.296T>A (p.Val99Glu) GRCh37: Chr6:121768289 GRCh38: Chr6:121447143	GJA1	V99E	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 214319973.	NM_000165.5(GJA1):c.302G>A (p.Arg101Gln) GRCh37: Chr6:121768295 GRCh38: Chr6:121447149	GJA1	R101Q	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 53775574.	NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) GRCh37: Chr6:121768299 GRCh38: Chr6:121447153	GJA1	K102N	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 155084975.	NM_000165.5(GJA1):c.309A>G (p.Glu103=) GRCh37: Chr6:121768302 GRCh38: Chr6:121447156	GJA1		Oculodentodigital dysplasia, autosomal recessive	Benign (Oct 11, 2021)	criteria provided, single submitter
Select item 130306176.	NM_000165.5(GJA1):c.317T>C (p.Leu106Pro) GRCh37: Chr6:121768310 GRCh38: Chr6:121447164	GJA1	L106P	Oculodentodigital dysplasia, autosomal recessive, not provided	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109199377.	NM_000165.5(GJA1):c.327A>G (p.Lys109=) GRCh37: Chr6:121768320 GRCh38: Chr6:121447174	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Mar 23, 2020)	criteria provided, single submitter
Select item 105491478.	NM_000165.5(GJA1):c.353C>T (p.Thr118Ile) GRCh37: Chr6:121768346 GRCh38: Chr6:121447200	GJA1	T118I	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 158566679.	NM_000165.5(GJA1):c.357T>C (p.Asp119=) GRCh37: Chr6:121768350 GRCh38: Chr6:121447204	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 198093880.	NM_000165.5(GJA1):c.361G>A (p.Val121Ile) GRCh37: Chr6:121768354 GRCh38: Chr6:121447208	GJA1	V121I	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 65167681.	NM_000165.5(GJA1):c.365A>G (p.Asn122Ser) GRCh37: Chr6:121768358 GRCh38: Chr6:121447212	GJA1	N122S	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 159710382.	NM_000165.5(GJA1):c.366T>C (p.Asn122=) GRCh37: Chr6:121768359 GRCh38: Chr6:121447213	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 47021583.	NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) GRCh37: Chr6:121768382 GRCh38: Chr6:121447236	GJA1	I130T	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 93199384.	NM_000165.5(GJA1):c.396_398del (p.Ile132_Lys133delinsMet) GRCh37: Chr6:121768389-121768391 GRCh38: Chr6:121447243-121447245	GJA1		Atrioventricular septal defect 3	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 201235485.	NM_000165.5(GJA1):c.402G>C (p.Lys134Asn) GRCh37: Chr6:121768395 GRCh38: Chr6:121447249	GJA1	K134N	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 67995586.	NM_000165.5(GJA1):c.411C>T (p.Tyr137=) GRCh37: Chr6:121768404 GRCh38: Chr6:121447258	GJA1		not provided, Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53775687.	NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) GRCh37: Chr6:121768405 GRCh38: Chr6:121447259	GJA1	G138S	Oculodentodigital dysplasia, autosomal recessive	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 47021688.	NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) GRCh37: Chr6:121768406 GRCh38: Chr6:121447260	GJA1	G138D	Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132016689.	NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) GRCh37: Chr6:121768409 GRCh38: Chr6:121447263	GJA1	I139N	Oculodentodigital dysplasia	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 1698790.	NM_000165.5(GJA1):c.427G>A (p.Gly143Ser) GRCh37: Chr6:121768420 GRCh38: Chr6:121447274	GJA1	G143S	Syndactyly type 3	Pathogenic (Jan 1, 2004)	no assertion criteria provided
Select item 67995691.	NM_000165.5(GJA1):c.432G>A (p.Lys144=) GRCh37: Chr6:121768425 GRCh38: Chr6:121447279	GJA1		not provided, Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103409592.	NM_000165.5(GJA1):c.433G>A (p.Val145Met) GRCh37: Chr6:121768426 GRCh38: Chr6:121447280	GJA1	V145M	Atrioventricular septal defect 3	Uncertain significance (Jul 21, 2018)	criteria provided, single submitter
Select item 133023093.	NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del) GRCh37: Chr6:121768427-121768432 GRCh38: Chr6:121447281-121447286	GJA1		Oculodentodigital dysplasia	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 37406894.	NM_000165.5(GJA1):c.440T>C (p.Met147Thr) GRCh37: Chr6:121768433 GRCh38: Chr6:121447287	GJA1	M147T	Anteverted nares, Bilateral microphthalmos, Intellectual disability, Cutaneous finger syndactyly	Pathogenic (Jul 2, 2014)	criteria provided, single submitter
Select item 43532495.	NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) GRCh37: Chr6:121768436 GRCh38: Chr6:121447290	GJA1	R148Q	not provided, Oculodentodigital dysplasia	Conflicting interpretations of pathogenicity (Jan 1, 2022)	criteria provided, conflicting interpretations
Select item 201285196.	NM_000165.5(GJA1):c.445G>A (p.Gly149Arg) GRCh37: Chr6:121768438 GRCh38: Chr6:121447292	GJA1	G149R	Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 133724397.	NM_000165.5(GJA1):c.450G>A (p.Gly150=) GRCh37: Chr6:121768443 GRCh38: Chr6:121447297	GJA1		not specified	Uncertain significance (Jul 2, 2019)	criteria provided, single submitter
Select item 110520698.	NM_000165.5(GJA1):c.450G>T (p.Gly150=) GRCh37: Chr6:121768443 GRCh38: Chr6:121447297	GJA1		Oculodentodigital dysplasia, autosomal recessive	Likely benign (Sep 10, 2020)	criteria provided, single submitter
Select item 35516099.	NM_000165.5(GJA1):c.456G>A (p.Leu152=) GRCh37: Chr6:121768449 GRCh38: Chr6:121447303	GJA1		Syndactyly type 3, Oculodentodigital dysplasia, not provided, Oculodentodigital dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 1704116100.	NM_000165.5(GJA1):c.457C>T (p.Arg153Ter) GRCh37: Chr6:121768450 GRCh38: Chr6:121447304	GJA1	R153*	not provided, not specified, Oculodentodigital dysplasia, autosomal recessive	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts

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