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
single nucleotide variant	NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)	SDHA	Pathogenic	5	226156	226156	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578627
single nucleotide variant	NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)	SDHA	Pathogenic	5	235345	235345	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173122
single nucleotide variant	NM_004168.4(SDHA):c.1663+1G>T	SDHA	Pathogenic/Likely pathogenic	5	251219	251219	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173314
single nucleotide variant	NM_004168.4(SDHA):c.1794+1G>A	SDHA	Likely pathogenic	5	251584	251584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578632
Deletion	NM_001267550.2(TTN):c.64688del (p.Pro21563fs)	TTN	Likely pathogenic	2	179449680	179449680	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581139
single nucleotide variant	NM_003280.3(TNNC1):c.161C>A (p.Pro54His)	TNNC1	Likely pathogenic	3	52486163	52486163	G	T	criteria provided, single submitter	ClinGen:CA10581146
single nucleotide variant	NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)	BAG3	Pathogenic	10	121431958	121431958	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581154
single nucleotide variant	NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)	MYH7	Likely pathogenic	14	23894048	23894048	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581172
single nucleotide variant	NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)	MYH7	Likely pathogenic	14	23898213	23898213	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581177
single nucleotide variant	NM_000257.4(MYH7):c.773T>C (p.Leu258Ser)	MYH7	Likely pathogenic	14	23900650	23900650	A	G	criteria provided, single submitter	ClinGen:CA10581180