肥大型心筋症 - MGenReviews

肥大型心筋症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)	PRKAG2	Likely pathogenic	7	151265836	151265836	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013659,UniProtKB:Q9UGJ0#VAR_013267,OMIM:602743.0004
single nucleotide variant	NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)	PRKAG2	Likely pathogenic	7	151261232	151261232	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013833,OMIM:602743.0010
single nucleotide variant	NM_033337.3(CAV3):c.137C>T (p.Ala46Val)	CAV3	Likely pathogenic	3	8787234	8787234	C	T	criteria provided, single submitter	ClinGen:CA119431,Leiden Muscular Dystrophy (CAV3):CAV3_00006,UniProtKB:P56539#VAR_011514,OMIM:601253.0006
single nucleotide variant	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)	TNNC1	Likely pathogenic	3	52485301	52485301	C	T	criteria provided, single submitter	ClinGen:CA122392,OMIM:191040.0001
single nucleotide variant	NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)	TTN	Likely pathogenic	2	179647707	179647707	A	G	criteria provided, single submitter	ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
single nucleotide variant	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN	Likely pathogenic	2	179391848	179391848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341209,OMIM:188840.0005
single nucleotide variant	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	MYH7	Likely pathogenic	14	23893193	23893193	C	T	reviewed by expert panel	ClinGen:CA013144,UniProtKB:P12883#VAR_004598,OMIM:160760.0007
single nucleotide variant	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)	MYH7	Likely pathogenic	14	23893235	23893235	C	T	criteria provided, single submitter	UniProtKB:P12883#VAR_004597,OMIM:160760.0019,ClinGen:CA013118
single nucleotide variant	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	MYH7	Likely pathogenic	14	23884861	23884861	G	A	reviewed by expert panel	UniProtKB:P12883#VAR_042834,OMIM:160760.0032,ClinGen:CA015719
single nucleotide variant	NM_001458.5(FLNC):c.752T>C (p.Met251Thr)	FLNC	Likely pathogenic	7	128477504	128477504	T	C	criteria provided, single submitter	ClinGen:CA128477,UniProtKB:Q14315#VAR_066213,OMIM:102565.0003