特発性拡張型心筋症

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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
Deletion	NM_004168.4(SDHA):c.1del (p.Met1fs)	SDHA	Pathogenic	5	218471	218471	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293865
single nucleotide variant	NM_004168.4(SDHA):c.1A>T (p.Met1Leu)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042099
single nucleotide variant	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172674
single nucleotide variant	NM_004168.4(SDHA):c.1A>C (p.Met1Leu)	SDHA	Pathogenic	5	218471	218471	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119881,OMIM:600857.0003