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Items: 1 to 100 of 1578

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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, LOC101928373, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102723341, LOC102723690, LOC102724646, LOC103352541, LOC105377858, LOC105377862, LOC105377879, LOC105377924, LOC105377967, LOC105377975, 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, MTCL3, 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-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 casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
2.
GRCh37:
Chr6:97057870-122482694
GRCh38:
Chr6:96609994-122161548
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, 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
See casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
3.
GRCh37:
Chr6:100502765-120809300
GRCh38:
Chr6:100054889-120488154
AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, COL10A1, CRYBG1, DCBLD1, DDO, DSE, FAM162B, FAM184A, FAM229B, FIG4, FOXO3, FRK, FYN, GOPC, GPR6, GPRC6A, GRIK2, GTF3C6, HACE1, HDAC2, HDAC2-AS2, HS3ST5, KPNA5, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02836, LINC02880, LNCPOIR, LOC100287467, LOC101927919, LOC102724646, LOC105377924, LOC105377967, LOC105377975, LOC110120709, LOC110121046, LOC110121109, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, 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, 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, LOC127407129, LOC128559983, LOC128667231, LOC285762, MAN1A1, MARCKS, MCHR2-AS1, MCM9, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR587, MROCKI, MTRES1, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PLN, POPDC3, PPIL6, PRDM1, PREP, QRSL1, REV3L, RFPL4B, RFX6, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SIM1, SIM1-AS1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
4.
GRCh37:
Chr6:103727340-114255403
GRCh38:
Chr6:103279465-113934239
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
5.
GRCh37:
Chr6:106951594-126102365
GRCh38:
Chr6:106503719-125781219
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, LOC102723341, 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, AFG1L
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
6.
GRCh37:
Chr6:107691345-116148646
GRCh38:
Chr6:107370141-115827482
See casesPathogenic
(Jan 13, 2012)
no assertion criteria provided
7.
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, LOC102723341, 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, MTCL3, 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-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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr6:112270045-113227804
GRCh38:
Chr6:111948842-112906602
CCN6, FAM229B, LAMA4, LAMA4-AS1, LOC110121046, LOC121740664, LOC126859766, LOC126859767, RFPL4B, TUBE1See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
9.
GRCh37:
Chr6:112332118-112565420
GRCh38:
Chr6:112010915-112244218
CCN6, FAM229B, LAMA4, LAMA4-AS1, LOC126859766, LOC126859767, TUBE1See casesUncertain significance
(May 29, 2013)
no assertion criteria provided
10.
GRCh37:
Chr6:112430639
GRCh38:
Chr6:112109436
LAMA4Cardiovascular phenotype, not provided, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Jan 3, 2019)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr6:112430643
GRCh38:
Chr6:112109440
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 7, 2020)
criteria provided, single submitter
12.
GRCh37:
Chr6:112430651
GRCh38:
Chr6:112109448
LAMA4P1814S, P1821SCardiovascular phenotypeUncertain significance
(Feb 20, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr6:112430652
GRCh38:
Chr6:112109449
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Nov 5, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr6:112430654
GRCh38:
Chr6:112109451
LAMA4C1813R, C1820RDilated cardiomyopathy 1JJUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr6:112430656
GRCh38:
Chr6:112109453
LAMA4S1812F, S1819FCardiovascular phenotypeUncertain significance
(Apr 17, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr6:112430662
GRCh38:
Chr6:112109459
LAMA4I1810T, I1817TCardiomyopathy, not specified, Cardiovascular phenotype,
Dilated cardiomyopathy 1JJ
Benign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr6:112430664
GRCh38:
Chr6:112109461
LAMA4S1809R, S1816RCardiovascular phenotypeUncertain significance
(Jan 5, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr6:112430667-112430668
GRCh38:
Chr6:112109464-112109465
LAMA4S1816fs, S1809fsDilated cardiomyopathy 1JJ, Cardiovascular phenotype, not specified
Conflicting interpretations of pathogenicity
(Mar 20, 2023)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr6:112430669
GRCh38:
Chr6:112109466
LAMA4V1808I, V1815Inot specified, Dilated cardiomyopathy 1JJ, not provided,
Cardiomyopathy
Benign/Likely benign
(Apr 9, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:112430670
GRCh38:
Chr6:112109467
LAMA4Cardiovascular phenotype, Dilated cardiomyopathy 1JJ, not specified
Likely benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr6:112430672
GRCh38:
Chr6:112109469
LAMA4A1807S, A1814SDilated cardiomyopathy 1JJUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:112430672
GRCh38:
Chr6:112109469
LAMA4A1807T, A1814TCardiovascular phenotype, Dilated cardiomyopathy 1JJUncertain significance
(Feb 12, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:112430673
GRCh38:
Chr6:112109470
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr6:112430675
GRCh38:
Chr6:112109472
LAMA4G1806S, G1813SCardiomyopathy, Dilated cardiomyopathy 1JJ, not provided
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:112430700
GRCh38:
Chr6:112109497
LAMA4Dilated cardiomyopathy 1JJ, Cardiovascular phenotypeLikely benign
(May 31, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:112430707
GRCh38:
Chr6:112109504
LAMA4P1795Q, P1802QCardiovascular phenotypeUncertain significance
(Mar 15, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr6:112430712
GRCh38:
Chr6:112109509
LAMA4Cardiovascular phenotype, Dilated cardiomyopathy 1JJ, not specified
Likely benign
(Jan 15, 2023)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:112430714
GRCh38:
Chr6:112109511
LAMA4G1800R, G1793RDilated cardiomyopathy 1JJUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr6:112430716
GRCh38:
Chr6:112109513
LAMA4D1799V, D1792VCardiovascular phenotypeUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:112430719
GRCh38:
Chr6:112109516
LAMA4I1798S, I1791SCardiovascular phenotype, Dilated cardiomyopathy 1JJUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr6:112430719
GRCh38:
Chr6:112109516
LAMA4I1791T, I1798TDilated cardiomyopathy 1JJ, Cardiovascular phenotype, not provided
Uncertain significance
(Feb 17, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:112430728
GRCh38:
Chr6:112109525
LAMA4H1795P, H1788PDilated cardiomyopathy 1JJUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr6:112430729
GRCh38:
Chr6:112109526
LAMA4H1788Y, H1795YCardiovascular phenotype, Dilated cardiomyopathy 1JJUncertain significance
(Feb 25, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr6:112430730
GRCh38:
Chr6:112109527
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jun 14, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr6:112430732
GRCh38:
Chr6:112109529
LAMA4R1787S, R1794SCardiovascular phenotypeUncertain significance
(Mar 12, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr6:112430732
GRCh38:
Chr6:112109529
LAMA4R1787C, R1794CDilated cardiomyopathy 1JJ, not specifiedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr6:112430737
GRCh38:
Chr6:112109534
LAMA4C1792Y, C1785YCardiovascular phenotypeUncertain significance
(Dec 28, 2020)
criteria provided, single submitter
38.
GRCh37:
Chr6:112430743
GRCh38:
Chr6:112109540
LAMA4T1783I, T1790Inot providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr6:112430748
GRCh38:
Chr6:112109545
LAMA4Cardiovascular phenotype, Dilated cardiomyopathy 1JJLikely benign
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr6:112430765-112430793
GRCh38:
Chr6:112109562-112109590
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:112430767
GRCh38:
Chr6:112109564
LAMA4R1775H, R1782HCardiovascular phenotype, Dilated cardiomyopathy 1JJ, not provided
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr6:112430768
GRCh38:
Chr6:112109565
LAMA4R1775C, R1782Cnot specified, not provided, Dilated cardiomyopathy 1JJ,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr6:112430770
GRCh38:
Chr6:112109567
LAMA4P1774L, P1781Lnot providedUncertain significance
(Jun 22, 2020)
criteria provided, single submitter
44.
GRCh37:
Chr6:112430771
GRCh38:
Chr6:112109568
LAMA4P1781S, P1774SCardiovascular phenotypeUncertain significance
(Jul 7, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr6:112430772
GRCh38:
Chr6:112109569
LAMA4not specified, Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr6:112430777
GRCh38:
Chr6:112109574
LAMA4not provided, Cardiovascular phenotypeLikely benign
(Jul 7, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr6:112430794
GRCh38:
Chr6:112109591
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jun 13, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:112430886
GRCh38:
Chr6:112109683
LAMA4not providedBenign
(Jun 15, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr6:112430963
GRCh38:
Chr6:112109760
LAMA4not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr6:112431086
GRCh38:
Chr6:112109883
LAMA4not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr6:112435264
GRCh38:
Chr6:112114061
LAMA4Dilated cardiomyopathy 1JJ, not specifiedBenign
(Apr 9, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr6:112435273
GRCh38:
Chr6:112114070
LAMA4Dilated cardiomyopathy 1JJ, not specifiedBenign
(Apr 9, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:112435288
GRCh38:
Chr6:112114085
LAMA4G1766S, G1773SCardiovascular phenotypeUncertain significance
(Feb 21, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr6:112435294
GRCh38:
Chr6:112114091
LAMA4V1764F, V1771FCardiovascular phenotypeUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr6:112435296
GRCh38:
Chr6:112114093
LAMA4F1763S, F1770SCardiovascular phenotype, not providedUncertain significance
(Jul 7, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:112435307
GRCh38:
Chr6:112114104
LAMA4not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr6:112435317
GRCh38:
Chr6:112114114
LAMA4I1756T, I1763TDilated cardiomyopathy 1JJUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:112435335
GRCh38:
Chr6:112114132
LAMA4P1750L, P1757Lnot specified, Dilated cardiomyopathy 1JJ, Cardiovascular phenotype,
not provided
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr6:112435336
GRCh38:
Chr6:112114133
LAMA4P1757S, P1750SDilated cardiomyopathy 1JJ, CardiomyopathyUncertain significance
(Oct 11, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:112435338
GRCh38:
Chr6:112114135
LAMA4G1749E, G1756Enot specified, Dilated cardiomyopathy 1JJUncertain significance
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:112435346
GRCh38:
Chr6:112114143
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Dec 18, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr6:112435351
GRCh38:
Chr6:112114148
LAMA4N1745D, N1752DCardiovascular phenotype, Dilated cardiomyopathy 1JJUncertain significance
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr6:112435364
GRCh38:
Chr6:112114161
LAMA4Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1JJ
Likely benign
(Mar 31, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr6:112435368
GRCh38:
Chr6:112114165
LAMA4D1739G, D1746GDilated cardiomyopathy 1JJUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:112435373
GRCh38:
Chr6:112114170
LAMA4Q1737H, Q1744HDilated cardiomyopathy 1JJUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr6:112435375
GRCh38:
Chr6:112114172
LAMA4Q1737*, Q1744*not providedUncertain significance
(Jul 10, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr6:112435386
GRCh38:
Chr6:112114183
LAMA4S1740F, S1733FCardiovascular phenotypeUncertain significance
(Mar 17, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr6:112435390
GRCh38:
Chr6:112114187
LAMA4D1732N, D1739NCardiovascular phenotypeUncertain significance
(Jun 14, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr6:112435394
GRCh38:
Chr6:112114191
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Mar 28, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr6:112435411
GRCh38:
Chr6:112114208
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Oct 15, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr6:112435412
GRCh38:
Chr6:112114209
LAMA4not specified, Dilated cardiomyopathy 1JJBenign/Likely benign
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr6:112435413-112435414
GRCh38:
Chr6:112114210-112114211
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Oct 21, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:112435444-112435445
GRCh38:
Chr6:112114241-112114242
LAMA4not providedBenign
(Jun 15, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:112435682
GRCh38:
Chr6:112114479
LAMA4not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr6:112435796
GRCh38:
Chr6:112114593
LAMA4not providedBenign
(Jun 15, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr6:112435807
GRCh38:
Chr6:112114604
LAMA4not providedBenign
(Jun 15, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr6:112435850
GRCh38:
Chr6:112114647
LAMA4Dilated cardiomyopathy 1JJLikely benign
(May 2, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:112435865
GRCh38:
Chr6:112114662
LAMA4not provided, Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
Uncertain significance
(Oct 12, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr6:112435870
GRCh38:
Chr6:112114667
LAMA4Cardiovascular phenotypeLikely benign
(Mar 16, 2023)
criteria provided, single submitter
80.
GRCh37:
Chr6:112435878
GRCh38:
Chr6:112114675
LAMA4H1732Y, H1725YDilated cardiomyopathy 1JJ, Cardiovascular phenotypeUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:112435885
GRCh38:
Chr6:112114682
LAMA4Cardiovascular phenotypeLikely benign
(May 11, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr6:112435886
GRCh38:
Chr6:112114683
LAMA4G1722D, G1729DDilated cardiomyopathy 1JJUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr6:112435888
GRCh38:
Chr6:112114685
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Oct 22, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:112435900
GRCh38:
Chr6:112114697
LAMA4Q1717H, Q1724HDilated cardiomyopathy 1JJ, not providedUncertain significance
(Apr 5, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr6:112435906
GRCh38:
Chr6:112114703
LAMA4Cardiovascular phenotypeLikely benign
(Feb 20, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr6:112435912
GRCh38:
Chr6:112114709
LAMA4not specified, Dilated cardiomyopathy 1JJBenign
(Apr 9, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr6:112435913
GRCh38:
Chr6:112114710
LAMA4V1713D, V1720DCardiovascular phenotypeUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr6:112435913-112435914
GRCh38:
Chr6:112114710-112114711
LAMA4V1713N, V1720NCardiovascular phenotypeUncertain significance
(Oct 21, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr6:112435914
GRCh38:
Chr6:112114711
LAMA4V1720I, V1713ICardiovascular phenotypeUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr6:112435917
GRCh38:
Chr6:112114714
LAMA4S1712P, S1719PDilated cardiomyopathy 1JJUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:112435933
GRCh38:
Chr6:112114730
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Jan 3, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:112435934
GRCh38:
Chr6:112114731
LAMA4I1713T, I1706TCardiovascular phenotypeUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:112435937
GRCh38:
Chr6:112114734
LAMA4G1705A, G1712ADilated cardiomyopathy 1JJUncertain significance
(Sep 11, 2019)
criteria provided, single submitter
94.
GRCh37:
Chr6:112435939
GRCh38:
Chr6:112114736
LAMA4Dilated cardiomyopathy 1JJLikely benign
(Nov 1, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr6:112435943
GRCh38:
Chr6:112114740
LAMA4N1703S, N1710SDilated cardiomyopathy 1JJUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:112435946
GRCh38:
Chr6:112114743
LAMA4V1709A, V1702ADilated cardiomyopathy 1JJ, not providedUncertain significance
(Mar 21, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr6:112435953
GRCh38:
Chr6:112114750
LAMA4V1707M, V1700MCardiovascular phenotypeUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:112435955
GRCh38:
Chr6:112114752
LAMA4I1699T, I1706TDilated cardiomyopathy 1JJ, Cardiovascular phenotypeUncertain significance
(Dec 4, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr6:112435957
GRCh38:
Chr6:112114754
LAMA4Dilated cardiomyopathy 1JJLikely benign
(May 22, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:112435961
GRCh38:
Chr6:112114758
LAMA4Dilated cardiomyopathy 1JJUncertain significance
(Sep 7, 2020)
criteria provided, single submitter
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