7414[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 1157

<< First< Prev

Page of 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1489451.	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 GRCh37: Chr10:52489127-88906961 GRCh38: Chr10:50729367-87147204	A1CF, ADAMTS14, ADIRF, ADIRF-AS1, ADK, ADO, AGAP11, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA11, ANXA7, AP3M1, ARID5B, ASAH2B, ASCC1, ATOH7, BICC1, BMPR1A, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CCSER2, CDH23, CDH23-AS1, CDHR1, CDK1, CERNA2, CFAP70, CHCHD1, CHST3, CISD1, COL13A1, COMTD1, CSTF2T, CTNNA3, DDIT4, DDX21, DDX50, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EGR2, EIF4EBP2, EIF5AL1, FAM13C, FAM149B1, FAM241B, FAM25A, FUT11, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, HERC4, HK1, HKDC1, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LDB3, LINC00595, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC01515, LINC01519, LINC01520, LINC01553, LINC02621, LINC02622, LINC02636, LINC02647, LINC02650, LINC02651, LINC02655, LINC02671, LINC02672, LINC02679, LNCAROD, LOC100130698, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102724719, LOC105378305, LOC105378311, LOC105378328, LOC105378367, LOC105378396, LOC107832851, LOC107984236, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC121815953, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462391, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC283045, LOC642361, LOC729815, LRIT1, LRIT2, LRMDA, LRRC20, LRRTM3, MACROH2A2, MAT1A, MBL2, MCU, MICU1, MIR1296, MIR346, MIR3924, MIR4676, MIR548F1, MIR605, MIR606, MIR7151, MIR7152, MMRN2, MRLN, MRPS16, MSS51, MTRNR2L5, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NRG3, NRG3-AS1, NUDT13, NUTM2B, NUTM2B-AS1, NUTM2E, OIT3, OPN4, P4HA1, PALD1, PBLD, PCBD1, PCDH15, PHYHIPL, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PRXL2A, PSAP, REEP3, RGR, RHOBTB1, RPS24, RTKN2, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNCG, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TFAM, TMEM254, TMEM254-AS1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN14, TSPAN14-AS1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 587262.	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 GRCh37: Chr10:60196226-76174974 GRCh38: Chr10:58436466-74415216	ADAMTS14, ADK, ADO, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA7, AP3M1, ARID5B, ASCC1, ATOH7, BICC1, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CDH23, CDH23-AS1, CDK1, CFAP70, CHCHD1, CHST3, COL13A1, CTNNA3, DDIT4, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, ECD, EGR2, EIF4EBP2, FAM13C, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KIFBP, LINC00844, LINC00845, LINC01515, LINC01553, LINC02621, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC105378328, LOC107832851, LOC107984236, LOC108178982, LOC110121485, LOC111365158, LOC111365196, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC283045, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR1296, MIR4676, MIR7151, MIR7152, MRLN, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PHYHIPL, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RHOBTB1, RTKN2, RUFY2, SAR1A, SEC24C, SGPL1, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNORA11F, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VPS26A, VSIR, ZNF365, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1474773.	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 GRCh37: Chr10:65162339-77055857 GRCh38: Chr10:63402579-75296099	ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KIFBP, LINC01515, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC101929165, LOC102723439, LOC107832851, LOC108178982, LOC110120903, LOC110121366, LOC110121382, LOC110121485, LOC111365158, LOC111365196, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR1254-1, MIR4676, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZNF503, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1461154.	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 GRCh37: Chr10:68956325-81181813 GRCh38: Chr10:67196567-79422057	ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDX21, DDX50, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LINC00595, LINC00856, LINC02622, LINC02636, LINC02651, LOC100131132, LOC101928994, LOC101929165, LOC101929234, LOC102723439, LOC105378367, LOC107832851, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC113939917, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LRMDA, LRRC20, MACROH2A2, MCU, MICU1, MIR1254-1, MIR4676, MIR606, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PSAP, RPS24, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 587455.	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 GRCh37: Chr10:74480386-77372132 GRCh38: Chr10:72720628-75612374	ADK, AGAP5, ANXA7, AP3M1, C10orf55, CAMK2G, CFAP70, CHCHD1, COMTD1, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, FAM149B1, FUT11, KAT6B, LOC101929165, LOC101929234, LOC102723439, LOC110120879, LOC110120903, LOC110121366, LOC110121382, LOC110121485, LOC111982871, LOC116216115, LOC116216116, LOC121366062, LOC121815949, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LRMDA, MCU, MIR4676, MIR606, MRPS16, MSS51, MYOZ1, NDST2, NDST2-ZSWIM8-AS1, NUDT13, OIT3, P4HA1, PLA2G12B, PLAU, PPP3CB, PPP3CB-AS1, SAMD8, SEC24C, SNORA11F, SNORD172, SYNPO2L, SYNPO2L-AS1, USP54, VCL, VDAC2, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6840576.	NM_014000.2(VCL):c.-386A>G GRCh37: Chr10:75757580 GRCh38: Chr10:73997822	VCL		not provided	Benign (Jun 18, 2018)	criteria provided, single submitter
Select item 6840607.	NM_014000.2(VCL):c.-264A>G GRCh37: Chr10:75757702 GRCh38: Chr10:73997944	VCL		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 12055908.	Single allele GRCh37: Chr10:75757783 GRCh38: Chr10:73998025	VCL		not provided	Likely benign (Sep 7, 2019)	criteria provided, single submitter
Select item 11882739.	Single allele GRCh37: Chr10:75757806 GRCh38: Chr10:73998048	VCL		not provided	Likely benign (Dec 23, 2018)	criteria provided, single submitter
Select item 87926710.	NM_014000.2(VCL):c.-96C>T GRCh37: Chr10:75757870 GRCh38: Chr10:73998112	VCL		Dilated cardiomyopathy 1W	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30078011.	NM_014000.3(VCL):c.-62T>G GRCh37: Chr10:75757904 GRCh38: Chr10:73998146	VCL		Dilated cardiomyopathy 1W	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87926812.	NM_014000.3(VCL):c.-58G>T GRCh37: Chr10:75757908 GRCh38: Chr10:73998150	VCL		Dilated cardiomyopathy 1W	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 65181013.	NC_000010.11:g.(?_73998188)_(73998395_?)del GRCh37: Chr10:75757946-75758153 GRCh38: Chr10:73998188-73998395	VCL		Dilated cardiomyopathy 1W	Uncertain significance (Jul 17, 2018)	criteria provided, single submitter
Select item 38105114.	NM_014000.3(VCL):c.-13G>A GRCh37: Chr10:75757953 GRCh38: Chr10:73998195	VCL		not specified	Likely benign (Oct 28, 2015)	criteria provided, single submitter
Select item 256562415.	NM_014000.3(VCL):c.-4C>T GRCh37: Chr10:75757962 GRCh38: Chr10:73998204	VCL		Cardiovascular phenotype	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 205617016.	NM_014000.3(VCL):c.4C>G (p.Pro2Ala) GRCh37: Chr10:75757969 GRCh38: Chr10:73998211	VCL	P2A	Dilated cardiomyopathy 1W, not provided	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162867717.	NM_014000.3(VCL):c.6A>C (p.Pro2=) GRCh37: Chr10:75757971 GRCh38: Chr10:73998213	VCL		Dilated cardiomyopathy 1W	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 105351618.	NM_014000.3(VCL):c.14A>C (p.His5Pro) GRCh37: Chr10:75757979 GRCh38: Chr10:73998221	VCL	H5P	Dilated cardiomyopathy 1W	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 114239119.	NM_014000.3(VCL):c.18G>A (p.Thr6=) GRCh37: Chr10:75757983 GRCh38: Chr10:73998225	VCL		Dilated cardiomyopathy 1W	Likely benign (Mar 28, 2020)	criteria provided, single submitter
Select item 137872320.	NM_014000.3(VCL):c.20G>A (p.Arg7His) GRCh37: Chr10:75757985 GRCh38: Chr10:73998227	VCL	R7H	Dilated cardiomyopathy 1W, Cardiovascular phenotype	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64096721.	NM_014000.3(VCL):c.20G>T (p.Arg7Leu) GRCh37: Chr10:75757985 GRCh38: Chr10:73998227	VCL	R7L	Inborn genetic diseases, Hypertrophic cardiomyopathy 15, Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W	Uncertain significance (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 242006322.	NM_014000.3(VCL):c.24G>A (p.Thr8=) GRCh37: Chr10:75757989 GRCh38: Chr10:73998231	VCL		Dilated cardiomyopathy 1W	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 70196923.	NM_014000.3(VCL):c.24G>T (p.Thr8=) GRCh37: Chr10:75757989 GRCh38: Chr10:73998231	VCL		not provided	Likely benign (Dec 12, 2017)	criteria provided, single submitter
Select item 158467724.	NM_014000.3(VCL):c.27C>T (p.Ile9=) GRCh37: Chr10:75757992 GRCh38: Chr10:73998234	VCL		Dilated cardiomyopathy 1W	Likely benign (Jan 17, 2021)	criteria provided, single submitter
Select item 79644025.	NM_014000.3(VCL):c.30G>A (p.Glu10=) GRCh37: Chr10:75757995 GRCh38: Chr10:73998237	VCL		Dilated cardiomyopathy 1W	Likely benign (Sep 11, 2020)	criteria provided, single submitter
Select item 4560726.	NM_014000.3(VCL):c.31A>G (p.Ser11Gly) GRCh37: Chr10:75757996 GRCh38: Chr10:73998238	VCL	S11G	not specified	Uncertain significance (Sep 6, 2012)	criteria provided, single submitter
Select item 53670327.	NM_014000.3(VCL):c.32G>A (p.Ser11Asn) GRCh37: Chr10:75757997 GRCh38: Chr10:73998239	VCL	S11N	Cardiovascular phenotype, Dilated cardiomyopathy 1W	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87926928.	NM_014000.3(VCL):c.36C>T (p.Ile12=) GRCh37: Chr10:75758001 GRCh38: Chr10:73998243	VCL		Dilated cardiomyopathy 1W, Cardiomyopathy	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 24088229.	NM_014000.3(VCL):c.45G>A (p.Pro15=) GRCh37: Chr10:75758010 GRCh38: Chr10:73998252	VCL		Dilated cardiomyopathy 1W, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 20215230.	NM_014000.3(VCL):c.50C>A (p.Ala17Glu) GRCh37: Chr10:75758015 GRCh38: Chr10:73998257	VCL	A17E	not provided	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 111256431.	NM_014000.3(VCL):c.51A>G (p.Ala17=) GRCh37: Chr10:75758016 GRCh38: Chr10:73998258	VCL		Dilated cardiomyopathy 1W, Cardiovascular phenotype	Likely benign (Nov 15, 2020)	criteria provided, multiple submitters, no conflicts
Select item 101214632.	NM_014000.3(VCL):c.53A>G (p.Gln18Arg) GRCh37: Chr10:75758018 GRCh38: Chr10:73998260	VCL	Q18R	Dilated cardiomyopathy 1W	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 175329733.	NM_014000.3(VCL):c.63C>G (p.Ser21=) GRCh37: Chr10:75758028 GRCh38: Chr10:73998270	VCL		Cardiovascular phenotype	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 175657334.	NM_014000.3(VCL):c.69G>A (p.Leu23=) GRCh37: Chr10:75758034 GRCh38: Chr10:73998276	VCL		Cardiovascular phenotype	Likely benign (Apr 21, 2021)	criteria provided, single submitter
Select item 76158035.	NM_014000.3(VCL):c.69G>C (p.Leu23=) GRCh37: Chr10:75758034 GRCh38: Chr10:73998276	VCL		Dilated cardiomyopathy 1W	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 175971236.	NM_014000.3(VCL):c.75A>C (p.Ile25=) GRCh37: Chr10:75758040 GRCh38: Chr10:73998282	VCL		Cardiovascular phenotype	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 172306237.	NM_014000.3(VCL):c.79C>G (p.His27Asp) GRCh37: Chr10:75758044 GRCh38: Chr10:73998286	VCL	H27D	not provided, Cardiovascular phenotype	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20214538.	NM_014000.3(VCL):c.81C>T (p.His27=) GRCh37: Chr10:75758046 GRCh38: Chr10:73998288	VCL		Cardiovascular phenotype, not specified, Cardiomyopathy, Dilated cardiomyopathy 1W	Conflicting interpretations of pathogenicity (Feb 5, 2023)	criteria provided, conflicting interpretations
Select item 165851939.	NM_014000.3(VCL):c.87G>A (p.Glu29=) GRCh37: Chr10:75758052 GRCh38: Chr10:73998294	VCL		Cardiovascular phenotype, Dilated cardiomyopathy 1W	Likely benign (Apr 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96330140.	NM_014000.3(VCL):c.98A>G (p.Asp33Gly) GRCh37: Chr10:75758063 GRCh38: Chr10:73998305	VCL	D33G	Dilated cardiomyopathy 1W	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 110562741.	NM_014000.3(VCL):c.99C>T (p.Asp33=) GRCh37: Chr10:75758064 GRCh38: Chr10:73998306	VCL		Cardiovascular phenotype, Dilated cardiomyopathy 1W	Likely benign (Nov 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149965142.	NM_014000.3(VCL):c.103A>G (p.Lys35Glu) GRCh37: Chr10:75758068 GRCh38: Chr10:73998310	VCL	K35E	Dilated cardiomyopathy 1W	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 150528043.	NM_014000.3(VCL):c.107C>T (p.Ala36Val) GRCh37: Chr10:75758072 GRCh38: Chr10:73998314	VCL	A36V	Dilated cardiomyopathy 1W	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 179746544.	NM_014000.3(VCL):c.111T>C (p.Ile37=) GRCh37: Chr10:75758076 GRCh38: Chr10:73998318	VCL		Cardiovascular phenotype	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 40894345.	NM_014000.3(VCL):c.113C>T (p.Pro38Leu) GRCh37: Chr10:75758078 GRCh38: Chr10:73998320	VCL	P38L	Dilated cardiomyopathy 1W	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 172311646.	NM_014000.3(VCL):c.118C>G (p.Leu40Val) GRCh37: Chr10:75758083 GRCh38: Chr10:73998325	VCL	L40V	not provided, Cardiovascular phenotype	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170456447.	NM_014000.3(VCL):c.120C>A (p.Leu40=) GRCh37: Chr10:75758085 GRCh38: Chr10:73998327	VCL		not specified	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 16653548.	NM_014000.3(VCL):c.120C>T (p.Leu40=) GRCh37: Chr10:75758085 GRCh38: Chr10:73998327	VCL		not provided, Cardiomyopathy, Dilated cardiomyopathy 1W, Cardiovascular phenotype, not specified	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175518749.	NM_014000.3(VCL):c.122C>T (p.Thr41Ile) GRCh37: Chr10:75758087 GRCh38: Chr10:73998329	VCL	T41I	not provided, Cardiovascular phenotype	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209928050.	NM_014000.3(VCL):c.124G>A (p.Ala42Thr) GRCh37: Chr10:75758089 GRCh38: Chr10:73998331	VCL	A42T	Dilated cardiomyopathy 1W	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 79313751.	NM_014000.3(VCL):c.126G>T (p.Ala42=) GRCh37: Chr10:75758091 GRCh38: Chr10:73998333	VCL		Dilated cardiomyopathy 1W	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 112734352.	NM_014000.3(VCL):c.129C>T (p.Pro43=) GRCh37: Chr10:75758094 GRCh38: Chr10:73998336	VCL		Cardiovascular phenotype, Dilated cardiomyopathy 1W	Likely benign (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180222353.	NM_014000.3(VCL):c.133G>C (p.Ala45Pro) GRCh37: Chr10:75758098 GRCh38: Chr10:73998340	VCL	A45P	Dilated cardiomyopathy 1W	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 177032954.	NM_014000.3(VCL):c.133G>A (p.Ala45Thr) GRCh37: Chr10:75758098 GRCh38: Chr10:73998340	VCL	A45T	Dilated cardiomyopathy 1W, Cardiovascular phenotype	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132929755.	NM_014000.3(VCL):c.134_135inv (p.Ala45Gly) GRCh37: Chr10:75758099-75758100 GRCh38: Chr10:73998341-73998342	VCL	A45G	Cardiomyopathy	Uncertain significance (Jan 20, 2021)	criteria provided, single submitter
Select item 132929856.	NM_014000.3(VCL):c.135C>G (p.Ala45=) GRCh37: Chr10:75758100 GRCh38: Chr10:73998342	VCL		Cardiomyopathy	Likely benign (Jan 30, 2021)	criteria provided, single submitter
Select item 177101957.	NM_014000.3(VCL):c.136G>T (p.Ala46Ser) GRCh37: Chr10:75758101 GRCh38: Chr10:73998343	VCL	A46S	Cardiovascular phenotype	Uncertain significance (Oct 30, 2020)	criteria provided, single submitter
Select item 132929958.	NM_014000.3(VCL):c.140T>G (p.Val47Gly) GRCh37: Chr10:75758105 GRCh38: Chr10:73998347	VCL	V47G	Cardiomyopathy	Uncertain significance (Jan 20, 2021)	criteria provided, single submitter
Select item 247821759.	NM_014000.3(VCL):c.142C>G (p.Gln48Glu) GRCh37: Chr10:75758107 GRCh38: Chr10:73998349	VCL	Q48E	Inborn genetic diseases	Uncertain significance (Jan 23, 2023)	criteria provided, single submitter
Select item 177246460.	NM_014000.3(VCL):c.142C>T (p.Gln48Ter) GRCh37: Chr10:75758107 GRCh38: Chr10:73998349	VCL	Q48*	Cardiovascular phenotype	Uncertain significance (Nov 24, 2020)	criteria provided, single submitter
Select item 177312761.	NM_014000.3(VCL):c.145G>A (p.Ala49Thr) GRCh37: Chr10:75758110 GRCh38: Chr10:73998352	VCL	A49T	Cardiovascular phenotype	Uncertain significance (Nov 30, 2020)	criteria provided, single submitter
Select item 177332362.	NM_014000.3(VCL):c.146C>G (p.Ala49Gly) GRCh37: Chr10:75758111 GRCh38: Chr10:73998353	VCL	A49G	Cardiovascular phenotype	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 63301463.	NM_014000.3(VCL):c.151G>T (p.Val51Phe) GRCh37: Chr10:75758116 GRCh38: Chr10:73998358	VCL	V51F	not specified, Dilated cardiomyopathy 1W	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 247810964.	NM_014000.3(VCL):c.155G>A (p.Ser52Asn) GRCh37: Chr10:75758120 GRCh38: Chr10:73998362	VCL	S52N	Inborn genetic diseases	Uncertain significance (Jan 23, 2023)	criteria provided, single submitter
Select item 30078165.	NM_014000.3(VCL):c.155G>C (p.Ser52Thr) GRCh37: Chr10:75758120 GRCh38: Chr10:73998362	VCL	S52T	Dilated cardiomyopathy 1W	Uncertain significance (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107813866.	NM_014000.3(VCL):c.156C>T (p.Ser52=) GRCh37: Chr10:75758121 GRCh38: Chr10:73998363	VCL		Dilated cardiomyopathy 1W	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 41795067.	NM_014000.3(VCL):c.158A>G (p.Asn53Ser) GRCh37: Chr10:75758123 GRCh38: Chr10:73998365	VCL	N53S	Cardiovascular phenotype, Dilated cardiomyopathy 1W	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100931668.	NM_014000.3(VCL):c.163G>C (p.Val55Leu) GRCh37: Chr10:75758128 GRCh38: Chr10:73998370	VCL	V55L	Dilated cardiomyopathy 1W	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 22963169.	NM_014000.3(VCL):c.163G>T (p.Val55Phe) GRCh37: Chr10:75758128 GRCh38: Chr10:73998370	VCL	V55F	Dilated cardiomyopathy 1W, Primary familial dilated cardiomyopathy, not specified, Cardiomyopathy	Uncertain significance (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 75421370.	NM_014000.3(VCL):c.165C>A (p.Val55=) GRCh37: Chr10:75758130 GRCh38: Chr10:73998372	VCL		Dilated cardiomyopathy 1W	Likely benign (Jun 12, 2018)	criteria provided, single submitter
Select item 46881071.	NM_014000.3(VCL):c.166C>T (p.Arg56Trp) GRCh37: Chr10:75758131 GRCh38: Chr10:73998373	VCL	R56W	Dilated cardiomyopathy 1W	Uncertain significance (Mar 8, 2017)	criteria provided, single submitter
Select item 219320172.	NM_014000.3(VCL):c.167G>A (p.Arg56Gln) GRCh37: Chr10:75758132 GRCh38: Chr10:73998374	VCL	R56Q	Dilated cardiomyopathy 1W	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 205222773.	NM_014000.3(VCL):c.168+1del GRCh37: Chr10:75758132 GRCh38: Chr10:73998374	VCL		Dilated cardiomyopathy 1W, Cardiovascular phenotype	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 115193274.	NM_014000.3(VCL):c.168+7G>T GRCh37: Chr10:75758140 GRCh38: Chr10:73998382	VCL		Dilated cardiomyopathy 1W	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 50515175.	NM_014000.3(VCL):c.168+9G>T GRCh37: Chr10:75758142 GRCh38: Chr10:73998384	VCL		Dilated cardiomyopathy 1W, not specified	Likely benign (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149702476.	NM_014000.3(VCL):c.168+28_168+39del GRCh37: Chr10:75758151-75758162 GRCh38: Chr10:73998393-73998404	VCL		Dilated cardiomyopathy 1W	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 38328777.	NM_014000.3(VCL):c.168+20C>A GRCh37: Chr10:75758153 GRCh38: Chr10:73998395	VCL		Dilated cardiomyopathy 1W, not specified	Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67149578.	NM_014000.3(VCL):c.169-290A>G GRCh37: Chr10:75802551 GRCh38: Chr10:74042793	VCL		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 157616279.	NM_014000.3(VCL):c.169-20G>C GRCh37: Chr10:75802821 GRCh38: Chr10:74043063	VCL		Dilated cardiomyopathy 1W	Likely benign (Oct 21, 2021)	criteria provided, single submitter
Select item 161698380.	NM_014000.3(VCL):c.169-11dup GRCh37: Chr10:75802822-75802823 GRCh38: Chr10:74043064-74043065	VCL		Dilated cardiomyopathy 1W	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 50639181.	NM_014000.3(VCL):c.169-11del GRCh37: Chr10:75802823 GRCh38: Chr10:74043065	VCL		Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15, Dilated cardiomyopathy 1W, not specified	Benign/Likely benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38403182.	NM_014000.3(VCL):c.169-18T>A GRCh37: Chr10:75802823 GRCh38: Chr10:74043065	VCL		not specified, Dilated cardiomyopathy 1W	Likely benign (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53672383.	NM_014000.3(VCL):c.169-10C>G GRCh37: Chr10:75802831 GRCh38: Chr10:74043073	VCL		Dilated cardiomyopathy 1W	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 51050384.	NM_014000.3(VCL):c.169-10delinsTG GRCh37: Chr10:75802831 GRCh38: Chr10:74043073	VCL		Cardiomyopathy, not specified	Conflicting interpretations of pathogenicity (Nov 3, 2021)	criteria provided, conflicting interpretations
Select item 112890485.	NM_014000.3(VCL):c.169-9C>T GRCh37: Chr10:75802832 GRCh38: Chr10:74043074	VCL		Dilated cardiomyopathy 1W	Likely benign (Oct 15, 2019)	criteria provided, single submitter
Select item 158710786.	NM_014000.3(VCL):c.169-7C>T GRCh37: Chr10:75802834 GRCh38: Chr10:74043076	VCL		Dilated cardiomyopathy 1W	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 41531287.	NM_014000.3(VCL):c.169-7C>G GRCh37: Chr10:75802834 GRCh38: Chr10:74043076	VCL		Dilated cardiomyopathy 1W, not provided	Likely benign (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171338388.	NM_014000.3(VCL):c.173G>A (p.Gly58Glu) GRCh37: Chr10:75802845 GRCh38: Chr10:74043087	VCL	G58E	Dilated cardiomyopathy 1W	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 118490389.	NM_014000.3(VCL):c.176_177del (p.Lys59fs) GRCh37: Chr10:75802846-75802847 GRCh38: Chr10:74043088-74043089	VCL	K59fs	not provided	Pathogenic (Jun 17, 2021)	criteria provided, single submitter
Select item 249658390.	NM_014000.3(VCL):c.184G>T (p.Val62Phe) GRCh37: Chr10:75802856 GRCh38: Chr10:74043098	VCL	V62F	Inborn genetic diseases	Uncertain significance (Mar 14, 2023)	criteria provided, single submitter
Select item 140445591.	NM_014000.3(VCL):c.184G>A (p.Val62Ile) GRCh37: Chr10:75802856 GRCh38: Chr10:74043098	VCL	V62I	Dilated cardiomyopathy 1W, Cardiovascular phenotype	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95879592.	NM_014000.3(VCL):c.184G>C (p.Val62Leu) GRCh37: Chr10:75802856 GRCh38: Chr10:74043098	VCL	V62L	Dilated cardiomyopathy 1W	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 134951393.	NM_014000.3(VCL):c.186_195del (p.Gln63fs) GRCh37: Chr10:75802857-75802866 GRCh38: Chr10:74043099-74043108	VCL	Q63fs	Dilated cardiomyopathy 1W	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 40895494.	NM_014000.3(VCL):c.185T>C (p.Val62Ala) GRCh37: Chr10:75802857 GRCh38: Chr10:74043099	VCL	V62A	not specified, Dilated cardiomyopathy 1W	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220233795.	NM_014000.3(VCL):c.186T>C (p.Val62=) GRCh37: Chr10:75802858 GRCh38: Chr10:74043100	VCL		Dilated cardiomyopathy 1W	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 178341296.	NM_014000.3(VCL):c.195T>C (p.Thr65=) GRCh37: Chr10:75802867 GRCh38: Chr10:74043109	VCL		Cardiovascular phenotype	Likely benign (Oct 23, 2018)	criteria provided, single submitter
Select item 100529497.	NM_014000.3(VCL):c.201T>A (p.Asp67Glu) GRCh37: Chr10:75802873 GRCh38: Chr10:74043115	VCL	D67E	Dilated cardiomyopathy 1W	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 209856298.	NM_014000.3(VCL):c.208T>A (p.Leu70Met) GRCh37: Chr10:75802880 GRCh38: Chr10:74043122	VCL	L70M	Dilated cardiomyopathy 1W	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 207840999.	NM_014000.3(VCL):c.217_218del (p.Asp73fs) GRCh37: Chr10:75802884-75802885 GRCh38: Chr10:74043126-74043127	VCL	D73fs	Dilated cardiomyopathy 1W	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 427981100.	NM_014000.3(VCL):c.220A>G (p.Met74Val) GRCh37: Chr10:75802892 GRCh38: Chr10:74043134	VCL	M74V	Hypertrophic cardiomyopathy	Likely benign (Apr 30, 2017)	criteria provided, single submitter

<< First< Prev

Page of 12