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Items: 1 to 100 of 1138

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, 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 casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
2.
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 casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr6:115922394-128835469
GRCh38:
Chr6:115601230-128514324
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 syndromePathogenic
(Aug 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr6:117928310-127021125
GRCh38:
Chr6:117607147-126699980
See casesPathogenic
(Oct 7, 2011)
no assertion criteria provided
7.
GRCh37:
Chr6:119296180-126034453
GRCh38:
Chr6:118975015-125713307
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr6:122150762-126475618
GRCh38:
Chr6:121829616-126154472
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
9.
GRCh37:
Chr6:123509488-124330063
GRCh38:
Chr6:123188343-124008918
NKAIN2, TRDN, TRDN-AS1See casesUncertain significance
(Jun 4, 2013)
no assertion criteria provided
10.
GRCh37:
Chr6:123519016-124330062
GRCh38:
Chr6:123197871-124008917
NKAIN2, TRDN, TRDN-AS1See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
11.
GRCh37:
Chr6:123527514-124280436
GRCh38:
Chr6:123206369-123959291
NKAIN2, TRDN, TRDN-AS1See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
12.
GRCh37:
Chr6:123527545-124302546
GRCh38:
Chr6:123206400-123981401
NKAIN2, TRDN, TRDN-AS1See casesLikely benign
(Sep 12, 2011)
no assertion criteria provided
13.
GRCh37:
Chr6:123527545-124280442
GRCh38:
Chr6:123206400-123959297
NKAIN2, TRDN, TRDN-AS1See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
14.
GRCh37:
Chr6:123538286-123538287
GRCh38:
Chr6:123217141-123217142
TRDNCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr6:123539526
GRCh38:
Chr6:123218381
TRDNnot providedBenign
(Jul 21, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:123539609
GRCh38:
Chr6:123218464
TRDNnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr6:123539624
GRCh38:
Chr6:123218479
TRDNnot providedLikely benign
(Jun 26, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:123539684
GRCh38:
Chr6:123218539
TRDNnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr6:123539685
GRCh38:
Chr6:123218540
TRDNnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:123539726-123957940
GRCh38:
Chr6:123218581-123636795
TRDN, TRDN-AS1Catecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Jun 19, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr6:123539726-123825066
GRCh38:
Chr6:123218581-123503921
TRDN, TRDN-AS1Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Oct 24, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr6:123539727
GRCh38:
Chr6:123218582
TRDNnot providedLikely benign
(Jan 26, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr6:123539731
GRCh38:
Chr6:123218586
TRDNnot providedLikely benign
(May 3, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:123539747
GRCh38:
Chr6:123218602
TRDNCardiovascular phenotypeLikely benign
(Nov 26, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr6:123539749
GRCh38:
Chr6:123218604
TRDNQ729HCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotypeUncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:123539751
GRCh38:
Chr6:123218606
TRDNQ729ECatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Apr 28, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:123539751
GRCh38:
Chr6:123218606
TRDNQ729*Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 18, 2020)
criteria provided, single submitter
28.
GRCh37:
Chr6:123539753
GRCh38:
Chr6:123218608
TRDNG728VCardiovascular phenotypeUncertain significance
(Jan 22, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr6:123539754
GRCh38:
Chr6:123218609
TRDNG728RCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:123539756
GRCh38:
Chr6:123218611
TRDNQ727RInborn genetic diseases, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jan 17, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr6:123539757
GRCh38:
Chr6:123218612
TRDNQ727*Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1,
Cardiovascular phenotype
Uncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:123539760
GRCh38:
Chr6:123218615
TRDNQ726*Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5,
Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Dec 15, 2021)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr6:123539769
GRCh38:
Chr6:123218624
TRDNG723RCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr6:123539771
GRCh38:
Chr6:123218626
TRDNP722LCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Nov 1, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr6:123539772
GRCh38:
Chr6:123218627
TRDNP722Anot provided, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Jul 10, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr6:123539776
GRCh38:
Chr6:123218631
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Feb 20, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:123539782
GRCh38:
Chr6:123218637
TRDNQ718HCardiovascular phenotypeUncertain significance
(Nov 4, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:123539786-123539787
GRCh38:
Chr6:123218641-123218642
TRDNG717fsCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:123539786
GRCh38:
Chr6:123218641
TRDNG717DCardiovascular phenotypeUncertain significance
(Apr 10, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr6:123539790
GRCh38:
Chr6:123218645
TRDNS716PCatecholaminergic polymorphic ventricular tachycardia 5Uncertain significance
(Mar 31, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:123539793
GRCh38:
Chr6:123218648
TRDNS715GCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotypeUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr6:123539798
GRCh38:
Chr6:123218653
TRDNG713ECardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr6:123539801
GRCh38:
Chr6:123218656
TRDNP712LCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, not provided
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr6:123539802
GRCh38:
Chr6:123218657
TRDNP712SCardiovascular phenotypeUncertain significance
(Dec 22, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr6:123539804
GRCh38:
Chr6:123218659
TRDNR711HCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr6:123539805
GRCh38:
Chr6:123218660
TRDNR711Cnot provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
Uncertain significance
(Jul 22, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr6:123539806
GRCh38:
Chr6:123218661
TRDND710ECardiovascular phenotypeUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr6:123539810
GRCh38:
Chr6:123218665
TRDNA709Enot specifiedUncertain significance
(Jul 9, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr6:123539813
GRCh38:
Chr6:123218668
TRDNP708LCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Mar 26, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:123539814
GRCh38:
Chr6:123218669
TRDNP708Snot provided, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr6:123539826
GRCh38:
Chr6:123218681
TRDNF704ICardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1,
Catecholaminergic polymorphic ventricular tachycardia 1
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr6:123539827
GRCh38:
Chr6:123218682
TRDNQ703HCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(May 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:123539828
GRCh38:
Chr6:123218683
TRDNQ703RCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr6:123539840
GRCh38:
Chr6:123218695
TRDNG699fsCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:123539842
GRCh38:
Chr6:123218697
TRDNCardiovascular phenotypeLikely benign
(Apr 12, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr6:123539843
GRCh38:
Chr6:123218698
TRDNN698SCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, not provided
Uncertain significance
(May 31, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr6:123539844
GRCh38:
Chr6:123218699
TRDNN698HCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Oct 31, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr6:123539844
GRCh38:
Chr6:123218699
TRDNN698DCatecholaminergic polymorphic ventricular tachycardiaUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr6:123539845
GRCh38:
Chr6:123218700
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Dec 15, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr6:123539849
GRCh38:
Chr6:123218704
TRDNG696ECatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr6:123539852
GRCh38:
Chr6:123218707
TRDND695Vnot provided, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1,
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
Uncertain significance
(Jul 17, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr6:123539862
GRCh38:
Chr6:123218717
TRDNV692ICardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(May 2, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr6:123539863
GRCh38:
Chr6:123218718
TRDNCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, not specified
Likely benign
(Jun 1, 2021)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr6:123539864
GRCh38:
Chr6:123218719
TRDNC691SCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 14, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr6:123539876
GRCh38:
Chr6:123218731
TRDNS687NCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Oct 31, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:123539891
GRCh38:
Chr6:123218746
TRDNnot providedLikely benign
(May 16, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr6:123539898
GRCh38:
Chr6:123218753
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Oct 30, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:123539903-123539904
GRCh38:
Chr6:123218758-123218759
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Dec 23, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr6:123539904
GRCh38:
Chr6:123218759
TRDNCatecholaminergic polymorphic ventricular tachycardia 5, not specified, Catecholaminergic polymorphic ventricular tachycardia 1
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr6:123542616-123542630
GRCh38:
Chr6:123221471-123221485
TRDNCardiovascular phenotypeUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:123542616
GRCh38:
Chr6:123221471
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Benign
(Jul 13, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:123542623
GRCh38:
Chr6:123221478
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Jun 13, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:123542630
GRCh38:
Chr6:123221485
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jul 24, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr6:123542631
GRCh38:
Chr6:123221486
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 7, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr6:123542645
GRCh38:
Chr6:123221500
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Jul 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:123542652
GRCh38:
Chr6:123221507
TRDNV677GCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr6:123542655
GRCh38:
Chr6:123221510
TRDND676GCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jul 17, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr6:123542672
GRCh38:
Chr6:123221527
TRDNnot providedLikely benign
(Apr 26, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr6:123542673
GRCh38:
Chr6:123221528
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Mar 8, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:123542674
GRCh38:
Chr6:123221529
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Oct 23, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:123542676
GRCh38:
Chr6:123221531
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Feb 13, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr6:123544960
GRCh38:
Chr6:123223815
TRDNnot providedLikely benign
(Aug 31, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr6:123545160
GRCh38:
Chr6:123224015
TRDNnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr6:123545218
GRCh38:
Chr6:123224073
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Mar 22, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:123545221
GRCh38:
Chr6:123224076
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Jun 20, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:123545223
GRCh38:
Chr6:123224078
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Likely benign
(Aug 5, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr6:123545232
GRCh38:
Chr6:123224087
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Feb 19, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr6:123545238
GRCh38:
Chr6:123224093
TRDNE672KCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Sep 13, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:123545241
GRCh38:
Chr6:123224096
TRDNK671QCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr6:123545245
GRCh38:
Chr6:123224100
TRDNCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotypeLikely benign
(Feb 5, 2023)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr6:123545250
GRCh38:
Chr6:123224105
TRDNK668QInborn genetic diseasesUncertain significance
(Mar 7, 2023)
criteria provided, single submitter
92.
GRCh37:
Chr6:123545255
GRCh38:
Chr6:123224110
TRDNA666DCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr6:123545256
GRCh38:
Chr6:123224111
TRDNA666PCardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr6:123545256
GRCh38:
Chr6:123224111
TRDNA666TCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(May 6, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:123545262
GRCh38:
Chr6:123224117
TRDNV664ICatecholaminergic polymorphic ventricular tachycardia 1, Inborn genetic diseases, Catecholaminergic polymorphic ventricular tachycardia 5
Uncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr6:123545266
GRCh38:
Chr6:123224121
TRDNE662DCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Jan 7, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:123545268
GRCh38:
Chr6:123224123
TRDNE662*Cardiovascular phenotypeUncertain significance
(Jan 11, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr6:123545272
GRCh38:
Chr6:123224127
TRDNCardiovascular phenotypeLikely benign
(Nov 4, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr6:123545279
GRCh38:
Chr6:123224134
TRDNCatecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotypeUncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr6:123545282
GRCh38:
Chr6:123224137
TRDNCatecholaminergic polymorphic ventricular tachycardia 1Uncertain significance
(Apr 28, 2022)
criteria provided, single submitter
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