5350[geneid] - 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, 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 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	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 cases	Pathogenic (Aug 2, 2011)	no assertion criteria provided
Select item 1551603.	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 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 cases	Pathogenic (Mar 4, 2013)	no assertion criteria provided
Select item 1530884.	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 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 cases	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 574865.	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, 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 25792656.	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 GRCh38: Chr6:113857248-130442177	ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LINC02523, LINC02534, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121740665, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC127407129, LOC128667231, LOC285762, MAN1A1, MARCKS, MCM9, MIR3144, MIR548B, MIR588, MROCKI, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1		Intellectual disability, autosomal dominant 55, with seizures	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 584427.	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, LOC102723341, 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, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SERINC1, SLC35F1, SMPDL3A, 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 17032308.	Single allele GRCh38: Chr6:115941808-133892653	ECHDC1, ENPP1, ENPP3, EPB41L2, HINT3, L3MBTL3, LAMA2, LINC00326, HSF2, KIAA0408, KPNA5, AKAP7, ARG1, ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CENPW, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DSE, EYA4, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, LINC01013, LINC01312, LINC02523, LOC100126584, LOC100287467, LOC101927919, LOC102723341, 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, MTCL3, 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-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 1512189.	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 GRCh37: Chr6:117136362-120040041 GRCh38: Chr6:116815199-119718887	NUS1, PLN, RFX6, ROS1, SLC35F1, VGLL2, ASF1A, CEP85L, DCBLD1, FAM184A, GOPC, GPRC6A, LOC101927919, LOC105377967, LOC105377975, LOC110121273, LOC121132704, LOC121740665, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC126859771, LOC126859772, LOC126859773, LOC127407129, LOC128667231, LOC285762, MAN1A1, MCM9, MIR548B		See cases	Likely pathogenic (Mar 26, 2013)	no assertion criteria provided
Select item 14865810.	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, LOC102723341, 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 5952811.	GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3 GRCh37: Chr6:118551027-119044197 GRCh38: Chr6:118229864-118723034	CEP85L, LOC110121273, LOC123833532, LOC126859773, PLN, SLC35F1		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5952912.	GRCh38/hg38 6q22.31(chr6:118390687-118736132)x3 GRCh37: Chr6:118711850-119057295 GRCh38: Chr6:118390687-118736132	CEP85L, LOC110121273, LOC123833532, LOC126859773, PLN		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5953013.	GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3 GRCh37: Chr6:118830249-119925663 GRCh38: Chr6:118509086-119604498	ASF1A, CEP85L, FAM184A, LOC105377975, LOC110121273, LOC123833532, LOC123833533, LOC123833534, LOC126859773, LOC285762, MAN1A1, MCM9, MIR548B, PLN		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 65789814.	NC_000006.12:g.(?_118548061)_(118559090_?)del GRCh37: Chr6:118869224-118880253 GRCh38: Chr6:118548061-118559090	CEP85L, PLN		Dilated cardiomyopathy 1P	Pathogenic (Aug 25, 2019)	criteria provided, single submitter
Select item 64154715.	NC_000006.11:g.(?_118869224)_(118880253_?)dup GRCh37: Chr6:118869224-118880253 GRCh38: Chr6:118548061-118559090	CEP85L, PLN		Dilated cardiomyopathy 1P	Uncertain significance (Dec 15, 2019)	criteria provided, single submitter
Select item 101376016.	NM_001042475.3(CEP85L):c.1020+17353T>C GRCh37: Chr6:118869339 GRCh38: Chr6:118548176	CEP85L, PLN		Dilated cardiomyopathy 1P	Uncertain significance (Aug 23, 2020)	criteria provided, single submitter
Select item 150480617.	NM_001042475.3(CEP85L):c.1020+17347A>G GRCh37: Chr6:118869345 GRCh38: Chr6:118548182	PLN, CEP85L		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46426718.	NC_000006.11:g.(?_118869382)_(118880263_?)dup GRCh37: Chr6:118869382-118880263 GRCh38: Chr6:118548219-118559100	CEP85L, PLN		Dilated cardiomyopathy 1P	Uncertain significance (Jun 28, 2018)	criteria provided, single submitter
Select item 2983619.	NM_001042475.3(CEP85L):c.1020+17310T>C GRCh37: Chr6:118869382 GRCh38: Chr6:118548219	PLN, CEP85L		Dilated cardiomyopathy 1P	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 23921220.	NM_001042475.3(CEP85L):c.1020+17280C>A GRCh37: Chr6:118869412 GRCh38: Chr6:118548249	CEP85L, PLN		Dilated cardiomyopathy 1P, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 22085121.	NM_001042475.3(CEP85L):c.1020+17275G>C GRCh37: Chr6:118869417 GRCh38: Chr6:118548254	CEP85L, PLN		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40332822.	NM_001042475.3(CEP85L):c.1020+17269T>G GRCh37: Chr6:118869423 GRCh38: Chr6:118548260	CEP85L, PLN		not provided, Dilated cardiomyopathy 1P, Lissencephaly 10, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35513323.	NM_001042475.3(CEP85L):c.1020+17189C>T GRCh37: Chr6:118869503 GRCh38: Chr6:118548340	CEP85L, PLN		not provided, Dilated cardiomyopathy 1P	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35513424.	NM_001042475.3(CEP85L):c.1020+17181A>T GRCh37: Chr6:118869511 GRCh38: Chr6:118548348	PLN, CEP85L		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35513525.	NM_001042475.3(CEP85L):c.1020+17159G>A GRCh37: Chr6:118869533 GRCh38: Chr6:118548370	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 68227726.	NM_002667.5(PLN):c.-98+15T>A GRCh37: Chr6:118869570 GRCh38: Chr6:118548407	CEP85L, PLN		not provided	Likely benign (Apr 25, 2018)	criteria provided, single submitter
Select item 38445027.	NM_002667.5(PLN):c.-98+17G>A GRCh37: Chr6:118869572 GRCh38: Chr6:118548409	CEP85L, PLN		not specified	Likely benign (Mar 1, 2016)	criteria provided, single submitter
Select item 119429328.	NM_002667.5(PLN):c.-97-293T>C GRCh37: Chr6:118879695 GRCh38: Chr6:118558532	CEP85L, PLN		not provided	Likely benign (Jun 30, 2018)	criteria provided, single submitter
Select item 126977129.	NM_002667.5(PLN):c.-97-206G>T GRCh37: Chr6:118879782 GRCh38: Chr6:118558619	CEP85L, PLN		not provided	Benign (Aug 13, 2019)	criteria provided, single submitter
Select item 118023930.	NM_002667.5(PLN):c.-97-199_-97-198del GRCh37: Chr6:118879788-118879789 GRCh38: Chr6:118558625-118558626	CEP85L, PLN		not provided	Likely benign (Oct 21, 2019)	criteria provided, single submitter
Select item 128320531.	NM_002667.5(PLN):c.-97-198AC[18] GRCh37: Chr6:118879789-118879790 GRCh38: Chr6:118558626-118558627	CEP85L, PLN		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 125855332.	NM_002667.5(PLN):c.-97-198AC[20] GRCh37: Chr6:118879789-118879790 GRCh38: Chr6:118558626-118558627	CEP85L, PLN		not provided	Benign (Nov 14, 2019)	criteria provided, single submitter
Select item 124600733.	NM_002667.5(PLN):c.-97-198AC[19] GRCh37: Chr6:118879789-118879790 GRCh38: Chr6:118558626-118558627	CEP85L, PLN		not provided	Benign (Aug 15, 2019)	criteria provided, single submitter
Select item 123611334.	NM_002667.5(PLN):c.-97-198AC[21] GRCh37: Chr6:118879789-118879790 GRCh38: Chr6:118558626-118558627	CEP85L, PLN		not provided	Benign (Aug 21, 2019)	criteria provided, single submitter
Select item 125210535.	NM_002667.5(PLN):c.-97-198AC[15] GRCh37: Chr6:118879790-118879793 GRCh38: Chr6:118558627-118558630	CEP85L, PLN		not provided	Benign (Aug 21, 2019)	criteria provided, single submitter
Select item 118034936.	NM_002667.5(PLN):c.-97-177_-97-162del GRCh37: Chr6:118879810-118879825 GRCh38: Chr6:118558647-118558662	CEP85L, PLN		not provided	Benign (Aug 13, 2019)	criteria provided, single submitter
Select item 122391437.	NM_002667.5(PLN):c.-97-169C>G GRCh37: Chr6:118879819 GRCh38: Chr6:118558656	CEP85L, PLN		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 124042738.	NM_002667.5(PLN):c.-97-167C>G GRCh37: Chr6:118879821 GRCh38: Chr6:118558658	CEP85L, PLN		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 119624039.	NM_002667.5(PLN):c.-97-165_-97-160del GRCh37: Chr6:118879822-118879827 GRCh38: Chr6:118558659-118558664	CEP85L, PLN		not provided	Likely benign (Aug 13, 2019)	criteria provided, single submitter
Select item 126072940.	NM_002667.5(PLN):c.-97-163G>C GRCh37: Chr6:118879825 GRCh38: Chr6:118558662	CEP85L, PLN		not provided	Benign (Aug 18, 2019)	criteria provided, single submitter
Select item 122586841.	NM_002667.5(PLN):c.-97-161G>C GRCh37: Chr6:118879827 GRCh38: Chr6:118558664	CEP85L, PLN		not provided	Benign (Aug 18, 2019)	criteria provided, single submitter
Select item 123803442.	NM_002667.5(PLN):c.-97-159G>C GRCh37: Chr6:118879829 GRCh38: Chr6:118558666	CEP85L, PLN		not provided	Benign (Aug 18, 2019)	criteria provided, single submitter
Select item 67599043.	NM_002667.5(PLN):c.-97-105A>G GRCh37: Chr6:118879883 GRCh38: Chr6:118558720	CEP85L, PLN		not provided	Likely benign (Jun 19, 2018)	criteria provided, single submitter
Select item 67532944.	NM_002667.5(PLN):c.-97-53T>A GRCh37: Chr6:118879935 GRCh38: Chr6:118558772	CEP85L, PLN		not provided	Likely benign (Jun 19, 2018)	criteria provided, single submitter
Select item 99341845.	NM_001042475.3(CEP85L):c.1020+6713T>C GRCh37: Chr6:118879979 GRCh38: Chr6:118558816	CEP85L, PLN		not provided	Likely benign (Dec 27, 2019)	criteria provided, single submitter
Select item 35513646.	NM_001042475.3(CEP85L):c.1020+6709A>G GRCh37: Chr6:118879983 GRCh38: Chr6:118558820	CEP85L, PLN		not provided, Dilated cardiomyopathy 1P	Uncertain significance (Apr 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 23921547.	NM_002667.4(PLN):c.-97-?_*1344+?dup1600 GRCh37: Chr6:118879988-118881587 GRCh38: Chr6:118558825-118560424	CEP85L, PLN		Dilated cardiomyopathy 1P	Uncertain significance (Jul 31, 2016)	criteria provided, single submitter
Select item 90640148.	NM_001042475.3(CEP85L):c.1020+6663G>A GRCh37: Chr6:118880029 GRCh38: Chr6:118558866	CEP85L, PLN		not provided, Dilated cardiomyopathy 1P	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 38408349.	NM_002667.5(PLN):c.-40C>T GRCh37: Chr6:118880045 GRCh38: Chr6:118558882	CEP85L, PLN		not specified	Likely benign (Mar 1, 2016)	criteria provided, single submitter
Select item 38491150.	NM_002667.5(PLN):c.-14G>A GRCh37: Chr6:118880071 GRCh38: Chr6:118558908	CEP85L, PLN		not specified	Likely benign (Mar 17, 2016)	criteria provided, single submitter
Select item 52033751.	NM_001042475.3(CEP85L):c.1020+6611A>T GRCh37: Chr6:118880081 GRCh38: Chr6:118558918	CEP85L, PLN		Cardiovascular phenotype	Uncertain significance (Jan 20, 2017)	criteria provided, single submitter
Select item 16497152.	NM_002667.5(PLN):c.2T>C (p.Met1Thr) GRCh37: Chr6:118880086 GRCh38: Chr6:118558923	CEP85L, PLN	M1T	not specified	Uncertain significance (Nov 20, 2013)	criteria provided, single submitter
Select item 107257953.	NM_002667.5(PLN):c.9dup (p.Val4fs) GRCh37: Chr6:118880090-118880091 GRCh38: Chr6:118558927-118558928	CEP85L, PLN	V4fs	Dilated cardiomyopathy 1P	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 22915254.	NM_002667.5(PLN):c.14A>G (p.Gln5Arg) GRCh37: Chr6:118880098 GRCh38: Chr6:118558935	CEP85L, PLN	Q5R	not specified	Uncertain significance (Jun 23, 2015)	criteria provided, single submitter
Select item 218177455.	NM_002667.5(PLN):c.16T>C (p.Tyr6His) GRCh37: Chr6:118880100 GRCh38: Chr6:118558937	PLN, CEP85L	Y6H	Dilated cardiomyopathy 1P	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 94023956.	NM_002667.5(PLN):c.26_29dup (p.Ala11fs) GRCh37: Chr6:118880106-118880107 GRCh38: Chr6:118558943-118558944	CEP85L, PLN	A11fs	Dilated cardiomyopathy 1P	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 41061757.	NM_002667.5(PLN):c.22A>C (p.Thr8Pro) GRCh37: Chr6:118880106 GRCh38: Chr6:118558943	CEP85L, PLN	T8P	Dilated cardiomyopathy 1P	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1363658.	NM_002667.5(PLN):c.25C>T (p.Arg9Cys) GRCh37: Chr6:118880109 GRCh38: Chr6:118558946	CEP85L, PLN	R9C	not provided, Cardiomyopathy, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1P	Pathogenic (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20203759.	NM_002667.5(PLN):c.26G>A (p.Arg9His) GRCh37: Chr6:118880110 GRCh38: Chr6:118558947	PLN, CEP85L	R9H	Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1P	Conflicting interpretations of pathogenicity (Jun 30, 2022)	criteria provided, conflicting interpretations
Select item 51165560.	NM_002667.5(PLN):c.27C>A (p.Arg9=) GRCh37: Chr6:118880111 GRCh38: Chr6:118558948	PLN, CEP85L		not specified	Likely benign (Aug 29, 2017)	criteria provided, single submitter
Select item 4457861.	NM_002667.5(PLN):c.27C>T (p.Arg9=) GRCh37: Chr6:118880111 GRCh38: Chr6:118558948	CEP85L, PLN		Cardiovascular phenotype, not provided, not specified, Cardiomyopathy, Dilated cardiomyopathy 1P	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 46426962.	NM_002667.5(PLN):c.29C>T (p.Ser10Leu) GRCh37: Chr6:118880113 GRCh38: Chr6:118558950	CEP85L, PLN	S10L	Dilated cardiomyopathy 1P	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 209066463.	NM_002667.5(PLN):c.31G>C (p.Ala11Pro) GRCh37: Chr6:118880115 GRCh38: Chr6:118558952	CEP85L, PLN	A11P	Dilated cardiomyopathy 1P	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 138556764.	NM_002667.5(PLN):c.31G>A (p.Ala11Thr) GRCh37: Chr6:118880115 GRCh38: Chr6:118558952	PLN, CEP85L	A11T	Dilated cardiomyopathy 1P	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 173307265.	NM_002667.5(PLN):c.35dup (p.Arg13fs) GRCh37: Chr6:118880118-118880119 GRCh38: Chr6:118558955-118558956	CEP85L, PLN	R13fs	Cardiovascular phenotype	Uncertain significance (Apr 14, 2021)	criteria provided, single submitter
Select item 23480666.	NM_002667.5(PLN):c.34A>G (p.Ile12Val) GRCh37: Chr6:118880118 GRCh38: Chr6:118558955	CEP85L, PLN	I12V	Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1P, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173308367.	NM_002667.5(PLN):c.35T>C (p.Ile12Thr) GRCh37: Chr6:118880119 GRCh38: Chr6:118558956	CEP85L, PLN	I12T	not provided, Cardiovascular phenotype	Uncertain significance (Dec 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16497268.	NM_002667.5(PLN):c.37dup (p.Arg13fs) GRCh37: Chr6:118880119-118880120 GRCh38: Chr6:118558956-118558957	CEP85L, PLN	R13fs	not specified	Uncertain significance (Feb 24, 2011)	criteria provided, single submitter
Select item 62648369.	NM_002667.5(PLN):c.36A>G (p.Ile12Met) GRCh37: Chr6:118880120 GRCh38: Chr6:118558957	CEP85L, PLN	I12M	Cardiomyopathy, Dilated cardiomyopathy 1P	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4458070.	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) GRCh37: Chr6:118880120-118880122 GRCh38: Chr6:118558957-118558959	CEP85L, PLN	R14del	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 18, SUDDEN INFANT DEATH SYNDROME, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1P	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 173600571.	NM_002667.5(PLN):c.38G>A (p.Arg13Lys) GRCh37: Chr6:118880122 GRCh38: Chr6:118558959	CEP85L, PLN	R13K	Cardiovascular phenotype	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 46427072.	NM_002667.5(PLN):c.41G>T (p.Arg14Ile) GRCh37: Chr6:118880125 GRCh38: Chr6:118558962	CEP85L, PLN	R14I	Cardiovascular phenotype, Dilated cardiomyopathy 1P	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4458173.	NM_002667.5(PLN):c.43G>A (p.Ala15Thr) GRCh37: Chr6:118880127 GRCh38: Chr6:118558964	CEP85L, PLN	A15T	not specified, Dilated cardiomyopathy 1P	Conflicting interpretations of pathogenicity (Dec 24, 2021)	criteria provided, conflicting interpretations
Select item 214575574.	NM_002667.5(PLN):c.45C>A (p.Ala15=) GRCh37: Chr6:118880129 GRCh38: Chr6:118558966	CEP85L, PLN		Dilated cardiomyopathy 1P, Cardiovascular phenotype	Likely benign (Jun 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57377475.	NM_002667.5(PLN):c.53T>C (p.Ile18Thr) GRCh37: Chr6:118880137 GRCh38: Chr6:118558974	CEP85L, PLN	I18T	Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Hypertrophic cardiomyopathy	Uncertain significance (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141563176.	NM_002667.5(PLN):c.56A>G (p.Glu19Gly) GRCh37: Chr6:118880140 GRCh38: Chr6:118558977	CEP85L, PLN	E19G	Cardiovascular phenotype, Dilated cardiomyopathy 1P	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102962377.	NM_002667.5(PLN):c.61C>T (p.Pro21Ser) GRCh37: Chr6:118880145 GRCh38: Chr6:118558982	CEP85L, PLN	P21S	Hypertrophic cardiomyopathy 18	Uncertain significance (Feb 14, 2019)	criteria provided, single submitter
Select item 20203978.	NM_002667.5(PLN):c.63_64dup (p.Gln22fs) GRCh37: Chr6:118880145-118880146 GRCh38: Chr6:118558982-118558983	CEP85L, PLN	Q22fs	Cardiovascular phenotype, not specified, Cardiomyopathy, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (May 11, 2022)	criteria provided, conflicting interpretations
Select item 4458279.	NM_002667.5(PLN):c.61C>A (p.Pro21Thr) GRCh37: Chr6:118880145 GRCh38: Chr6:118558982	CEP85L, PLN	P21T	Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, not provided, Dilated cardiomyopathy 1P	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170904180.	NM_002667.5(PLN):c.63_64del (p.Gln22fs) GRCh37: Chr6:118880146-118880147 GRCh38: Chr6:118558983-118558984	CEP85L, PLN	Q22fs	Hypertrophic cardiomyopathy 18	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 22915381.	NM_002667.5(PLN):c.67C>G (p.Gln23Glu) GRCh37: Chr6:118880151 GRCh38: Chr6:118558988	CEP85L, PLN	Q23E	not specified	Uncertain significance (Mar 11, 2015)	criteria provided, single submitter
Select item 218605082.	NM_002667.5(PLN):c.69A>G (p.Gln23=) GRCh37: Chr6:118880153 GRCh38: Chr6:118558990	CEP85L, PLN		Dilated cardiomyopathy 1P	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 20204083.	NM_002667.5(PLN):c.73C>T (p.Arg25Cys) GRCh37: Chr6:118880157 GRCh38: Chr6:118558994	CEP85L, PLN	R25C	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1P	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 20203884.	NM_002667.5(PLN):c.73C>G (p.Arg25Gly) GRCh37: Chr6:118880157 GRCh38: Chr6:118558994	CEP85L, PLN	R25G	not provided, Dilated cardiomyopathy 1P	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 41061685.	NM_002667.5(PLN):c.74G>A (p.Arg25His) GRCh37: Chr6:118880158 GRCh38: Chr6:118558995	PLN, CEP85L	R25H	Cardiovascular phenotype, Dilated cardiomyopathy 1P, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134697286.	NM_002667.5(PLN):c.79A>G (p.Lys27Glu) GRCh37: Chr6:118880163 GRCh38: Chr6:118559000	CEP85L, PLN	K27E	Dilated cardiomyopathy 1P	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 94983287.	NM_002667.5(PLN):c.85C>T (p.Gln29Ter) GRCh37: Chr6:118880169 GRCh38: Chr6:118559006	CEP85L, PLN	Q29*	Dilated cardiomyopathy 1P	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 90640288.	NM_002667.5(PLN):c.90T>C (p.Asn30=) GRCh37: Chr6:118880174 GRCh38: Chr6:118559011	CEP85L, PLN		Dilated cardiomyopathy 1P	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 145334089.	NM_002667.5(PLN):c.95_98del (p.Phe32fs) GRCh37: Chr6:118880176-118880179 GRCh38: Chr6:118559013-118559016	PLN, CEP85L	F32fs	Dilated cardiomyopathy 1P	Pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 197770990.	NM_002667.5(PLN):c.105_106del (p.Phe35fs) GRCh37: Chr6:118880188-118880189 GRCh38: Chr6:118559025-118559026	PLN, CEP85L	F35fs	Dilated cardiomyopathy 1P	Pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 53292091.	NM_002667.5(PLN):c.113T>C (p.Ile38Thr) GRCh37: Chr6:118880197 GRCh38: Chr6:118559034	CEP85L, PLN	I38T	Dilated cardiomyopathy 1P	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 173351792.	NM_002667.5(PLN):c.114C>G (p.Ile38Met) GRCh37: Chr6:118880198 GRCh38: Chr6:118559035	CEP85L, PLN	I38M	Cardiovascular phenotype	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 1363793.	NM_002667.5(PLN):c.116T>G (p.Leu39Ter) GRCh37: Chr6:118880200 GRCh38: Chr6:118559037	PLN, CEP85L	L39*	Cardiovascular phenotype, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213645694.	NM_002667.5(PLN):c.121T>A (p.Cys41Ser) GRCh37: Chr6:118880205 GRCh38: Chr6:118559042	PLN, CEP85L	C41S	Dilated cardiomyopathy 1P	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 176283295.	NM_002667.5(PLN):c.126_127del (p.Leu43fs) GRCh37: Chr6:118880207-118880208 GRCh38: Chr6:118559044-118559045	PLN, CEP85L	L43fs	Cardiovascular phenotype, Dilated cardiomyopathy 1P	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137538596.	NM_002667.5(PLN):c.124C>A (p.Leu42Ile) GRCh37: Chr6:118880208 GRCh38: Chr6:118559045	PLN, CEP85L	L42I	Dilated cardiomyopathy 1P	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 46426897.	NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup) GRCh37: Chr6:118880211-118880212 GRCh38: Chr6:118559048-118559049	CEP85L, PLN		not provided, Dilated cardiomyopathy 1P	Uncertain significance (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20218498.	NM_002667.5(PLN):c.131T>C (p.Leu44Pro) GRCh37: Chr6:118880215 GRCh38: Chr6:118559052	CEP85L, PLN	L44P	Cardiovascular phenotype, Dilated cardiomyopathy 1P	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162718199.	NM_002667.5(PLN):c.138T>C (p.Cys46=) GRCh37: Chr6:118880222 GRCh38: Chr6:118559059	CEP85L, PLN		Dilated cardiomyopathy 1P	Likely benign (Jun 16, 2021)	criteria provided, single submitter
Select item 1399599100.	NM_002667.5(PLN):c.141C>G (p.Ile47Met) GRCh37: Chr6:118880225 GRCh38: Chr6:118559062	CEP85L, PLN	I47M	Dilated cardiomyopathy 1P	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter

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