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_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)	TTN	Likely pathogenic	2	179403522	179403522	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA276022
single nucleotide variant	NM_004100.5(EYA4):c.1739-1G>A	EYA4	Likely pathogenic	6	133846291	133846291	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275997
single nucleotide variant	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA	Pathogenic/Likely pathogenic	5	224547	224547	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276119,OMIM:600857.0010
Indel	NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)	TTN	Pathogenic	2	179584315	179584316	GC	T	criteria provided, single submitter	ClinGen:CA207334
single nucleotide variant	NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)	MYH7	Likely pathogenic	14	23885280	23885280	A	G	criteria provided, single submitter	ClinGen:CA207077
single nucleotide variant	NM_004006.3(DMD):c.6614+3310G>T	DMD	Likely pathogenic	X	31983146	31983146	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347360
single nucleotide variant	NM_001105206.3(LAMA4):c.620G>A (p.Gly207Asp)	LAMA4	Likely pathogenic	6	112512936	112512936	C	T	criteria provided, single submitter	ClinGen:CA321552
single nucleotide variant	NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47361204	47361204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279293
single nucleotide variant	NM_170707.4(LMNA):c.810+1G>C	LMNA	Pathogenic	1	156104767	156104767	G	C	criteria provided, single submitter	ClinGen:CA277528
single nucleotide variant	NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)	TTN	Pathogenic/Likely pathogenic	2	179393524	179393524	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351280,ClinVar:424806