ClinVar for MedGen (Select 104705) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9747751.	NM_001159699.2(FHL1):c.710G>A (p.Cys237Tyr) GRCh37: ChrX:135290774 GRCh38: ChrX:136208615	FHL1	C221Y, C237Y, C250Y	Asymmetric septal hypertrophy	Likely pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 9747742.	NM_001458.5(FLNC):c.6004+2T>C GRCh37: Chr7:128492808 GRCh38: Chr7:128852754	FLNC, FLNC-AS1		Hypertrophic cardiomyopathy 26, Asymmetric septal hypertrophy	Likely pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 1810223.	NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) GRCh37: Chr11:47353666 GRCh38: Chr11:47332115	MYBPC3	N1257K	Primary familial dilated cardiomyopathy, Cardiovascular phenotype, not specified, not provided, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 1558084.	NM_000256.3(MYBPC3):c.3190+5G>A GRCh37: Chr11:47355103 GRCh38: Chr11:47333552	MYBPC3		Heart block, Tachycardia, Asymmetric septal hypertrophy, Premature ventricular contraction, Dyspnea, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, Cardiovascular phenotype, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, not providedCardiomyopathy, Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, ...see more	Pathogenic/Likely pathogenic (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 427845.	NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) GRCh37: Chr11:47370092 GRCh38: Chr11:47348541	MYBPC3	V219L	Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 366426.	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) GRCh37: Chr14:23884860 GRCh38: Chr14:23415651	LOC126861897, MHRT, MYH7	R1712Q	Hypertrophic cardiomyopathy	Pathogenic (Dec 9, 2021)	reviewed by expert panel FDA Recognized Database
Select item 96067.	m.4300A>G GRCh37: ChrMT:4300 GRCh38: ChrMT:4300	MT-TI		Mitochondrial disease	Likely pathogenic (Sep 12, 2022)	reviewed by expert panel FDA Recognized Database