4607[geneid] - ClinVar - NCBI

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

Result Filters

Search results

Items: 1 to 100 of 3299

<< First< Prev

Page of 33

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1483161.	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 GRCh37: Chr11:39200802-49157287 GRCh38: Chr11:39179252-49135735	ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433248, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861195, LOC126861196, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408		See cases	Pathogenic (Apr 14, 2011)	no assertion criteria provided
Select item 1460792.	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 GRCh37: Chr11:41139872-48664555 GRCh38: Chr11:41118322-48643003	ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TSPAN18, TTC17, ZNF408		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 1505953.	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 GRCh37: Chr11:42749105-49157287 GRCh38: Chr11:42727555-49135735	ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LRP4, LRP4-AS1, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408		See cases	Likely pathogenic (Aug 2, 2012)	no assertion criteria provided
Select item 573294.	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1 GRCh37: Chr11:46862005-48664555 GRCh38: Chr11:46840454-48643003	CKAP5, CSTPP1, DDB2, FAM180B, FNBP4, KBTBD4, LOC111464990, LOC112081398, LOC112081399, LOC113939923, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC124433257, LOC124433258, LOC126861205, LOC126861206, LRP4, LRP4-AS1, MADD, MADD-AS1, MIR3161, MIR4487, MIR6745, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC39A13, SLC39A13-AS1, SPI1, ACP2, AGBL2, ARFGAP2, C1QTNF4, CELF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1510055.	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1 GRCh37: Chr11:47232210-47448882 GRCh38: Chr11:47210659-47427331	ACP2, DDB2, LOC121392911, LOC121392912, LOC126861205, MADD, MADD-AS1, MIR4487, MYBPC3, NR1H3, PSMC3, SLC39A13, SLC39A13-AS1, SPI1		See cases	Pathogenic (Jul 16, 2012)	no assertion criteria provided
Select item 12335856.	Single allele GRCh37: Chr11:47352757 GRCh38: Chr11:47331206	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 12535497.	Single allele GRCh37: Chr11:47352862 GRCh38: Chr11:47331311	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 12717818.	Single allele GRCh37: Chr11:47352882 GRCh38: Chr11:47331331	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 3049349.	NM_000256.3(MYBPC3):c.*327C>A GRCh37: Chr11:47352967 GRCh38: Chr11:47331416	MYBPC3		Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 125800610.	NM_000256.3(MYBPC3):c.*314A>G GRCh37: Chr11:47352980 GRCh38: Chr11:47331429	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 126213511.	NM_000256.3(MYBPC3):c.*294T>A GRCh37: Chr11:47353000 GRCh38: Chr11:47331449	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 30493512.	NM_000256.3(MYBPC3):c.*293A>G GRCh37: Chr11:47353001 GRCh38: Chr11:47331450	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87829913.	NM_000256.3(MYBPC3):c.*275G>A GRCh37: Chr11:47353019 GRCh38: Chr11:47331468	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30493614.	NM_000256.3(MYBPC3):c.*236G>A GRCh37: Chr11:47353058 GRCh38: Chr11:47331507	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30493715.	NM_000256.3(MYBPC3):c.*230del GRCh37: Chr11:47353064 GRCh38: Chr11:47331513	MYBPC3		Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, not provided	Benign/Likely benign (Jun 14, 2016)	criteria provided, multiple submitters, no conflicts
Select item 87830016.	NM_000256.3(MYBPC3):c.*212C>G GRCh37: Chr11:47353082 GRCh38: Chr11:47331531	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30493817.	NM_000256.3(MYBPC3):c.*163C>A GRCh37: Chr11:47353131 GRCh38: Chr11:47331580	MYBPC3		Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30493918.	NM_000256.3(MYBPC3):c.*131T>C GRCh37: Chr11:47353163 GRCh38: Chr11:47331612	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 30494019.	NM_000256.3(MYBPC3):c.*127G>A GRCh37: Chr11:47353167 GRCh38: Chr11:47331616	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30494120.	NM_000256.3(MYBPC3):c.*119C>A GRCh37: Chr11:47353175 GRCh38: Chr11:47331624	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30494221.	NM_000256.3(MYBPC3):c.*116T>C GRCh37: Chr11:47353178 GRCh38: Chr11:47331627	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30494322.	NM_000256.3(MYBPC3):c.*113G>T GRCh37: Chr11:47353181 GRCh38: Chr11:47331630	MYBPC3		Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30494423.	NM_000256.3(MYBPC3):c.*95G>T GRCh37: Chr11:47353199 GRCh38: Chr11:47331648	MYBPC3		Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 129138424.	NM_000256.3(MYBPC3):c.*47C>T GRCh37: Chr11:47353247 GRCh38: Chr11:47331696	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 123122625.	NM_000256.3(MYBPC3):c.*27-44C>A GRCh37: Chr11:47353311 GRCh38: Chr11:47331760	MYBPC3		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 124749226.	NM_000256.3(MYBPC3):c.*26+16C>G GRCh37: Chr11:47353380 GRCh38: Chr11:47331829	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 13832027.	NM_000256.3(MYBPC3):c.*26+14G>A GRCh37: Chr11:47353382 GRCh38: Chr11:47331831	MYBPC3		not specified	Benign (Oct 25, 2013)	criteria provided, single submitter
Select item 38067928.	NM_000256.3(MYBPC3):c.*26+13C>T GRCh37: Chr11:47353383 GRCh38: Chr11:47331832	MYBPC3		not specified	Likely benign (Oct 20, 2015)	criteria provided, single submitter
Select item 30494529.	NM_000256.3(MYBPC3):c.*26+3A>G GRCh37: Chr11:47353393 GRCh38: Chr11:47331842	MYBPC3		Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 130351530.	NM_000256.3(MYBPC3):c.*26+2T>C GRCh37: Chr11:47353394 GRCh38: Chr11:47331843	MYBPC3		not provided	Uncertain significance (Apr 22, 2021)	criteria provided, single submitter
Select item 41740131.	NC_000011.10:g.(?_47331845)_(47336011_?)del GRCh37: Chr11:47353396-47357562 GRCh38: Chr11:47331845-47336011	MYBPC3		Hypertrophic cardiomyopathy	Pathogenic (Jan 16, 2017)	criteria provided, single submitter
Select item 173528632.	NM_000256.3(MYBPC3):c.3824_*22del (p.Ter1275Xaa) GRCh37: Chr11:47353400-47353423 GRCh38: Chr11:47331849-47331872	MYBPC3		Cardiovascular phenotype	Uncertain significance (Jun 16, 2016)	criteria provided, single submitter
Select item 52513633.	NC_000011.10:g.(?_47331851)_(47348561_?)del GRCh37: Chr11:47353402-47370112 GRCh38: Chr11:47331851-47348561	MYBPC3		Hypertrophic cardiomyopathy	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 45429734.	NC_000011.10:g.(?_47331851)_(47352667_?)del GRCh37: Chr11:47353402-47374218 GRCh38: Chr11:47331851-47352667	MYBPC3		Hypertrophic cardiomyopathy	Pathogenic (Apr 26, 2017)	criteria provided, single submitter
Select item 17785335.	NM_000256.3(MYBPC3):c.6_16del GRCh37: Chr11:47353406-47353416 GRCh38: Chr11:47331855-47331865	MYBPC3		not specified	Uncertain significance (Jan 2, 2009)	no assertion criteria provided
Select item 92788736.	NM_000256.3(MYBPC3):c.3_15del GRCh37: Chr11:47353407-47353419 GRCh38: Chr11:47331856-47331868	MYBPC3		Cardiomyopathy	Uncertain significance (Jul 20, 2019)	criteria provided, single submitter
Select item 244296737.	NM_000256.3(MYBPC3):c.*2C>G GRCh37: Chr11:47353420 GRCh38: Chr11:47331869	MYBPC3		Cardiomyopathy	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 17788838.	NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) GRCh37: Chr11:47353422 GRCh38: Chr11:47331871	MYBPC3		not provided	Uncertain significance (Aug 29, 2018)	criteria provided, single submitter
Select item 92136839.	NM_000256.3(MYBPC3):c.3824G>A (p.Ter1275=) GRCh37: Chr11:47353423 GRCh38: Chr11:47331872	MYBPC3		Cardiomyopathy	Likely benign (Jun 26, 2019)	criteria provided, single submitter
Select item 52494740.	NM_000256.3(MYBPC3):c.3818C>T (p.Pro1273Leu) GRCh37: Chr11:47353429 GRCh38: Chr11:47331878	MYBPC3	P1273L	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51785841.	NM_000256.3(MYBPC3):c.3816G>A (p.Val1272=) GRCh37: Chr11:47353431 GRCh38: Chr11:47331880	MYBPC3		not specified	Likely benign (May 17, 2017)	criteria provided, single submitter
Select item 4274642.	NM_000256.3(MYBPC3):c.3815-1G>A GRCh37: Chr11:47353433 GRCh38: Chr11:47331882	MYBPC3		Cardiovascular phenotype, not specified, not provided, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 173519143.	NM_000256.3(MYBPC3):c.3815-4G>A GRCh37: Chr11:47353436 GRCh38: Chr11:47331885	MYBPC3		Cardiovascular phenotype, Hypertrophic cardiomyopathy	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57805244.	NM_000256.3(MYBPC3):c.3815-11_3815-9del GRCh37: Chr11:47353441-47353443 GRCh38: Chr11:47331890-47331892	MYBPC3		not provided, Hypertrophic cardiomyopathy, Cardiomyopathy	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4274545.	NM_000256.3(MYBPC3):c.3815-10T>G GRCh37: Chr11:47353442 GRCh38: Chr11:47331891	MYBPC3		not provided, Cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (May 20, 2022)	criteria provided, conflicting interpretations
Select item 129061346.	NM_000256.3(MYBPC3):c.3815-12C>G GRCh37: Chr11:47353444 GRCh38: Chr11:47331893	MYBPC3		not provided	Benign (Nov 3, 2015)	criteria provided, single submitter
Select item 88011147.	NM_000256.3(MYBPC3):c.3815-12C>T GRCh37: Chr11:47353444 GRCh38: Chr11:47331893	MYBPC3		Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 81107648.	NM_000256.3(MYBPC3):c.3815-14C>T GRCh37: Chr11:47353446 GRCh38: Chr11:47331895	MYBPC3		not specified, Hypertrophic cardiomyopathy	Likely benign (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62996549.	NM_000256.3(MYBPC3):c.3815-16del GRCh37: Chr11:47353448 GRCh38: Chr11:47331897	MYBPC3		Cardiomyopathy	Likely benign (Apr 8, 2018)	criteria provided, single submitter
Select item 162477450.	NM_000256.3(MYBPC3):c.3815-20C>T GRCh37: Chr11:47353452 GRCh38: Chr11:47331901	MYBPC3		Hypertrophic cardiomyopathy	Likely benign (Sep 19, 2021)	criteria provided, single submitter
Select item 129061451.	NM_000256.3(MYBPC3):c.3815-66C>T GRCh37: Chr11:47353498 GRCh38: Chr11:47331947	MYBPC3		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 17913552.	NM_000256.3(MYBPC3):c.3814+14G>A GRCh37: Chr11:47353609 GRCh38: Chr11:47332058	MYBPC3		not specified, Hypertrophic cardiomyopathy	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166547653.	NM_000256.3(MYBPC3):c.3814+13C>T GRCh37: Chr11:47353610 GRCh38: Chr11:47332059	MYBPC3		Hypertrophic cardiomyopathy	Likely benign (Nov 7, 2021)	criteria provided, single submitter
Select item 51337754.	NM_000256.3(MYBPC3):c.3814+13C>A GRCh37: Chr11:47353610 GRCh38: Chr11:47332059	MYBPC3		not specified, Hypertrophic cardiomyopathy	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214777555.	NM_000256.3(MYBPC3):c.3814+8G>A GRCh37: Chr11:47353615 GRCh38: Chr11:47332064	MYBPC3		Hypertrophic cardiomyopathy	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 22271156.	NM_000256.3(MYBPC3):c.3814+2T>C GRCh37: Chr11:47353621 GRCh38: Chr11:47332070	MYBPC3		Primary familial hypertrophic cardiomyopathy	Likely pathogenic (Nov 2, 2015)	criteria provided, single submitter
Select item 136570057.	NM_000256.3(MYBPC3):c.3814+1G>C GRCh37: Chr11:47353622 GRCh38: Chr11:47332071	MYBPC3		Hypertrophic cardiomyopathy, Cardiovascular phenotype	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38402258.	NM_000256.3(MYBPC3):c.3814+1G>A GRCh37: Chr11:47353622 GRCh38: Chr11:47332071	MYBPC3		Cardiomyopathy, Hypertrophic cardiomyopathy, not provided	Conflicting interpretations of pathogenicity (Mar 16, 2022)	criteria provided, conflicting interpretations
Select item 106394559.	NM_000256.3(MYBPC3):c.3814G>C (p.Val1272Leu) GRCh37: Chr11:47353623 GRCh38: Chr11:47332072	MYBPC3	V1272L	Hypertrophic cardiomyopathy	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 18102960.	NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met) GRCh37: Chr11:47353623 GRCh38: Chr11:47332072	MYBPC3	V1272M	not provided	Uncertain significance (Jun 4, 2020)	criteria provided, single submitter
Select item 91941361.	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) GRCh37: Chr11:47353625 GRCh38: Chr11:47332074	MYBPC3	R1271Q	not specified, Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63662362.	NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro) GRCh37: Chr11:47353625 GRCh38: Chr11:47332074	MYBPC3	R1271P	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Uncertain significance (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4274463.	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) GRCh37: Chr11:47353626 GRCh38: Chr11:47332075	MYBPC3	R1271*	Hypertrophic cardiomyopathy, Long QT syndrome, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 173515664.	NM_000256.3(MYBPC3):c.3810G>T (p.Val1270=) GRCh37: Chr11:47353627 GRCh38: Chr11:47332076	MYBPC3		Cardiovascular phenotype	Likely benign (Jun 10, 2021)	criteria provided, single submitter
Select item 88011265.	NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) GRCh37: Chr11:47353627 GRCh38: Chr11:47332076	MYBPC3		Hypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype, Left ventricular noncompaction 10	Conflicting interpretations of pathogenicity (May 30, 2023)	criteria provided, conflicting interpretations
Select item 41857966.	NM_000256.3(MYBPC3):c.3809T>G (p.Val1270Gly) GRCh37: Chr11:47353628 GRCh38: Chr11:47332077	MYBPC3	V1270G	Hypertrophic cardiomyopathy, not provided	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52499167.	NM_000256.3(MYBPC3):c.3808G>A (p.Val1270Met) GRCh37: Chr11:47353629 GRCh38: Chr11:47332078	MYBPC3	V1270M	Hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 42379268.	NM_000256.3(MYBPC3):c.3808G>T (p.Val1270Leu) GRCh37: Chr11:47353629 GRCh38: Chr11:47332078	MYBPC3	V1270L	not provided, Cardiomyopathy	Uncertain significance (Dec 16, 2019)	criteria provided, multiple submitters, no conflicts
Select item 170533569.	NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter) GRCh37: Chr11:47353632 GRCh38: Chr11:47332081	MYBPC3	E1269*	Hypertrophic cardiomyopathy 4	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 146825970.	NM_000256.3(MYBPC3):c.3803T>C (p.Leu1268Pro) GRCh37: Chr11:47353634 GRCh38: Chr11:47332083	MYBPC3	L1268P	Hypertrophic cardiomyopathy	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 143689171.	NM_000256.3(MYBPC3):c.3802C>G (p.Leu1268Val) GRCh37: Chr11:47353635 GRCh38: Chr11:47332084	MYBPC3	L1268V	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Jan 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17953472.	NM_000256.3(MYBPC3):c.3797GCC[1] (p.Arg1267del) GRCh37: Chr11:47353635-47353637 GRCh38: Chr11:47332084-47332086	MYBPC3	R1267del	not specified	Uncertain significance (Jan 27, 2014)	criteria provided, single submitter
Select item 51283473.	NM_000256.3(MYBPC3):c.3801C>T (p.Arg1267=) GRCh37: Chr11:47353636 GRCh38: Chr11:47332085	MYBPC3		Cardiomyopathy, not specified, Hypertrophic cardiomyopathy	Likely benign (Feb 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18041574.	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) GRCh37: Chr11:47353637 GRCh38: Chr11:47332086	MYBPC3	R1267H	Cardiovascular phenotype, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65146475.	NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) GRCh37: Chr11:47353638 GRCh38: Chr11:47332087	MYBPC3	R1267fs	Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40731676.	NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys) GRCh37: Chr11:47353638 GRCh38: Chr11:47332087	MYBPC3	R1267C	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93549877.	NM_000256.3(MYBPC3):c.3798C>G (p.Cys1266Trp) GRCh37: Chr11:47353639 GRCh38: Chr11:47332088	MYBPC3	C1266W	Hypertrophic cardiomyopathy	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 173499478.	NM_000256.3(MYBPC3):c.3797G>T (p.Cys1266Phe) GRCh37: Chr11:47353640 GRCh38: Chr11:47332089	MYBPC3	C1266F	Cardiovascular phenotype	Uncertain significance (Mar 26, 2020)	criteria provided, single submitter
Select item 4274379.	NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) GRCh37: Chr11:47353640 GRCh38: Chr11:47332089	MYBPC3	C1266Y	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not specified, not provided, Hypertrophic cardiomyopathy	Uncertain significance (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91572280.	NM_000256.3(MYBPC3):c.3794_3796delinsTGC (p.Glu1265_Cys1266delinsValArg) GRCh37: Chr11:47353641-47353643 GRCh38: Chr11:47332090-47332092	MYBPC3		Cardiomyopathy	Uncertain significance (Jun 27, 2018)	criteria provided, single submitter
Select item 18102881.	NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg) GRCh37: Chr11:47353641 GRCh38: Chr11:47332090	MYBPC3	C1266R	Cardiovascular phenotype, not provided	Uncertain significance (Dec 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 18102782.	NM_000256.3(MYBPC3):c.3794A>T (p.Glu1265Val) GRCh37: Chr11:47353643 GRCh38: Chr11:47332092	MYBPC3	E1265V	not provided	Uncertain significance (Nov 24, 2015)	criteria provided, single submitter
Select item 149965683.	NM_000256.3(MYBPC3):c.3793G>A (p.Glu1265Lys) GRCh37: Chr11:47353644 GRCh38: Chr11:47332093	MYBPC3	E1265K	Hypertrophic cardiomyopathy	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 42701084.	NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) GRCh37: Chr11:47353645-47353655 GRCh38: Chr11:47332094-47332104	MYBPC3	E1261fs	Cardiovascular phenotype, not provided	Likely pathogenic (Apr 5, 2016)	criteria provided, multiple submitters, no conflicts
Select item 6461385.	NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) GRCh37: Chr11:47353646 GRCh38: Chr11:47332095	MYBPC3	C1264F	not provided	Likely pathogenic (Mar 30, 2014)	criteria provided, single submitter
Select item 4274286.	NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) GRCh37: Chr11:47353646 GRCh38: Chr11:47332095	MYBPC3	C1264Y	Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not specified, not provided, SUDDEN INFANT DEATH SYNDROME, Hypertrophic cardiomyopathy	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133201287.	NM_000256.3(MYBPC3):c.3790T>C (p.Cys1264Arg) GRCh37: Chr11:47353647 GRCh38: Chr11:47332096	MYBPC3	C1264R	Cardiomyopathy	Uncertain significance (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 214611388.	NM_000256.3(MYBPC3):c.3788G>A (p.Arg1263Gln) GRCh37: Chr11:47353649 GRCh38: Chr11:47332098	MYBPC3	R1263Q	Hypertrophic cardiomyopathy	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 139976589.	NM_000256.3(MYBPC3):c.3788G>T (p.Arg1263Leu) GRCh37: Chr11:47353649 GRCh38: Chr11:47332098	MYBPC3	R1263L	Hypertrophic cardiomyopathy	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 97830790.	NM_000256.3(MYBPC3):c.3788G>C (p.Arg1263Pro) GRCh37: Chr11:47353649 GRCh38: Chr11:47332098	MYBPC3	R1263P	Hypertrophic cardiomyopathy 1	Uncertain significance (Mar 9, 2020)	criteria provided, single submitter
Select item 173489491.	NM_000256.3(MYBPC3):c.3787del (p.Arg1263fs) GRCh37: Chr11:47353650 GRCh38: Chr11:47332099	MYBPC3	R1263fs	Cardiovascular phenotype	Likely pathogenic (Feb 18, 2021)	criteria provided, single submitter
Select item 18102692.	NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) GRCh37: Chr11:47353650 GRCh38: Chr11:47332099	MYBPC3	R1263W	Cardiovascular phenotype, Left ventricular noncompaction 10, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 256309293.	NM_000256.3(MYBPC3):c.3782_3784dup (p.Glu1261_Ala1262insGlu) GRCh37: Chr11:47353652-47353653 GRCh38: Chr11:47332101-47332102	MYBPC3		Cardiovascular phenotype	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 93207494.	NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val) GRCh37: Chr11:47353652 GRCh38: Chr11:47332101	MYBPC3	A1262V	Hypertrophic cardiomyopathy 4	Uncertain significance (Apr 12, 2019)	criteria provided, single submitter
Select item 201761495.	NM_000256.3(MYBPC3):c.3784G>A (p.Ala1262Thr) GRCh37: Chr11:47353653 GRCh38: Chr11:47332102	MYBPC3	A1262T	Hypertrophic cardiomyopathy	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 115613596.	NM_000256.3(MYBPC3):c.3783G>A (p.Glu1261=) GRCh37: Chr11:47353654 GRCh38: Chr11:47332103	MYBPC3		Hypertrophic cardiomyopathy	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 42701797.	NM_000256.3(MYBPC3):c.3781G>T (p.Glu1261Ter) GRCh37: Chr11:47353656 GRCh38: Chr11:47332105	MYBPC3	E1261*	not provided	Likely pathogenic (Sep 1, 2015)	criteria provided, single submitter
Select item 18041498.	NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys) GRCh37: Chr11:47353656 GRCh38: Chr11:47332105	MYBPC3	E1261K	Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95334699.	NM_000256.3(MYBPC3):c.3780C>T (p.Gly1260=) GRCh37: Chr11:47353657 GRCh38: Chr11:47332106	MYBPC3		Hypertrophic cardiomyopathy, Cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 1959572100.	NM_000256.3(MYBPC3):c.3779del (p.Gly1260fs) GRCh37: Chr11:47353658 GRCh38: Chr11:47332107	MYBPC3	G1260fs	Hypertrophic cardiomyopathy	Pathogenic (Oct 29, 2022)	criteria provided, single submitter

<< First< Prev

Page of 33