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_005159.5(ACTC1):c.889G>T (p.Ala297Ser)	ACTC1	Pathogenic	15	35083416	35083416	C	A	criteria provided, single submitter	ClinGen:CA019982,UniProtKB:P68032#VAR_012859,OMIM:102540.0003
single nucleotide variant	NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)	ACTC1	Pathogenic	15	35082750	35082750	C	G	criteria provided, single submitter	ClinGen:CA020027,UniProtKB:P68032#VAR_012861,OMIM:102540.0007
single nucleotide variant	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1	Pathogenic/Likely pathogenic	15	35085599	35085599	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019743,UniProtKB:P68032#VAR_012857,OMIM:102540.0009
single nucleotide variant	NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)	ACTC1	Likely pathogenic	15	35084672	35084672	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019824
single nucleotide variant	NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)	ACTC1	Likely pathogenic	15	35083439	35083439	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019967
single nucleotide variant	NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys)	ACTC1	Likely pathogenic	15	35083353	35083353	C	T	criteria provided, single submitter	ClinGen:CA020006
Deletion	NM_005159.5(ACTC1):c.275_277del (p.Phe92del)	ACTC1	Likely pathogenic	15	35085623	35085625	TAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019727
single nucleotide variant	NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln)	ACTC1	Likely pathogenic	15	35084384	35084384	C	G	criteria provided, single submitter	ClinGen:CA391630175
single nucleotide variant	NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	ACTC1	Pathogenic/Likely pathogenic	15	35084359	35084359	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)	ACTN2	Pathogenic	1	236882307	236882307	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199276,UniProtKB:P35609#VAR_071970,OMIM:102573.0005