特発性拡張型心筋症

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_000257.4(MYH7):c.2791G>A (p.Glu931Lys)	MYH7	Pathogenic/Likely pathogenic	14	23893247	23893247	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA389047044
single nucleotide variant	NM_000257.4(MYH7):c.2519T>C (p.Leu840Pro)	MYH7	Likely pathogenic	14	23894138	23894138	A	G	criteria provided, single submitter	ClinGen:CA389048244
single nucleotide variant	NM_000257.4(MYH7):c.1810A>G (p.Thr604Ala)	MYH7	Pathogenic	14	23896872	23896872	T	C	criteria provided, single submitter	ClinGen:CA389049768
single nucleotide variant	NM_000257.4(MYH7):c.1801C>G (p.Leu601Val)	MYH7	Likely pathogenic	14	23896881	23896881	G	C	criteria provided, single submitter	ClinGen:CA389049786
single nucleotide variant	NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)	SCN5A	Pathogenic	3	38592995	38592995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018670,OMIM:600163.0007
single nucleotide variant	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SCN5A	Pathogenic/Likely pathogenic	3	38592513	38592513	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019148,UniProtKB:Q14524#VAR_008959,OMIM:600163.0008
single nucleotide variant	NM_000335.5(SCN5A):c.3960+2T>C	SCN5A	Pathogenic	3	38603904	38603904	A	G	criteria provided, single submitter	ClinGen:CA017663,OMIM:600163.0009
single nucleotide variant	NM_004006.3(DMD):c.9958C>A (p.Pro3320Thr)	DMD	Likely pathogenic	X	31200871	31200871	G	T	criteria provided, single submitter	ClinGen:CA412653296
Deletion	NM_004006.3(DMD):c.5984del (p.Tyr1995fs)	DMD	Pathogenic	X	32328332	32328332	AT	A	criteria provided, single submitter	ClinGen:CA645369757
single nucleotide variant	NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	SCN5A	Pathogenic/Likely pathogenic	3	38592734	38592734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018910,OMIM:600163.0014