肥大型心筋症 - MGenReviews

肥大型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)	FLNC	Pathogenic	7	128498529	128498529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA258151,OMIM:102565.0001
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_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
single nucleotide variant	NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	MYOZ2	Likely pathogenic	4	120072092	120072092	T	C	criteria provided, single submitter	ClinGen:CA129291,Leiden Muscular Dystrophy (MYOZ2):MYOZ2_00001,UniProtKB:Q9NPC6#VAR_065469,OMIM:605602.0001
single nucleotide variant	NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)	CAV3	Pathogenic	3	8775641	8775641	C	G	criteria provided, single submitter	ClinGen:CA215172,Leiden Muscular Dystrophy (CAV3):CAV3_00031
single nucleotide variant	NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)	CAV3	Likely pathogenic	3	8787280	8787280	C	A	criteria provided, single submitter	ClinGen:CA215181,Leiden Muscular Dystrophy (CAV3):CAV3_00039,UniProtKB:P56539#VAR_026696
single nucleotide variant	NM_033337.3(CAV3):c.114+2T>C	CAV3	Pathogenic	3	8775678	8775678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA215208,Leiden Muscular Dystrophy (CAV3):CAV3_00051
single nucleotide variant	NM_000432.4(MYL2):c.497A>T (p.Asp166Val)	MYL2	Likely pathogenic	12	111348885	111348885	T	A	criteria provided, single submitter	ClinGen:CA010471,Leiden Muscular Dystrophy (MYL2):MYL2_00010,UniProtKB:P10916#VAR_019844