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
Duplication	NM_004168.4(SDHA):c.171dup (p.Val58fs)	SDHA	Pathogenic/Likely pathogenic	5	224494	224495	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.151-1G>C	SDHA	Likely pathogenic	5	224474	224474	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA359008365
single nucleotide variant	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA	Pathogenic/Likely pathogenic	5	223624	223624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168793,OMIM:600857.0008
Deletion	NM_004168.4(SDHA):c.63+2del	SDHA	Likely pathogenic	5	218535	218535	GT	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)	SDHA	Pathogenic/Likely pathogenic	5	218510	218511	C	CGGCGCCT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004168.4(SDHA):c.28del (p.Leu10fs)	SDHA	Pathogenic	5	218498	218498	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)	SDHA	Pathogenic	5	218475	218475	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.2T>A (p.Met1Lys)	SDHA	Pathogenic	5	218472	218472	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	SDHA	Pathogenic/Likely pathogenic	5	218472	218472	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618195
single nucleotide variant	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA	Pathogenic/Likely pathogenic	5	218472	218472	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611812