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_000256.3(MYBPC3):c.3740A>G (p.Asp1247Gly)	MYBPC3	Likely pathogenic	11	47353697	47353697	T	C	criteria provided, single submitter	ClinGen:CA380310981
single nucleotide variant	NM_002471.4(MYH6):c.4097C>T (p.Ala1366Val)	MYH6	Likely pathogenic	14	23858146	23858146	G	A	criteria provided, single submitter	ClinGen:CA389001874
single nucleotide variant	NM_000257.4(MYH7):c.5359G>C (p.Glu1787Gln)	MYH7	Likely pathogenic	14	23884404	23884404	C	G	criteria provided, single submitter	ClinGen:CA389035733
single nucleotide variant	NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)	SCN5A	Pathogenic/Likely pathogenic	3	38601909	38601909	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017679,OMIM:600163.0003
single nucleotide variant	NM_004281.4(BAG3):c.836C>A (p.Ser279Ter)	BAG3	Likely pathogenic	10	121432095	121432095	C	A	criteria provided, single submitter	ClinGen:CA214222103
Deletion	NM_000335.5(SCN5A):c.4187del (p.Lys1396fs)	SCN5A	Pathogenic	3	38601693	38601693	CT	C	criteria provided, single submitter	ClinGen:CA017930,OMIM:600163.0006
single nucleotide variant	NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	SCN5A	Pathogenic	3	38592996	38592996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018662,OMIM:600163.0028
Deletion	NM_001018005.1(TPM1):c.640_645del	TPM1	Likely pathogenic	15	63354413	63354418	AGTACTC	A	criteria provided, single submitter	ClinGen:CA645372573
single nucleotide variant	NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	LMNA	Likely pathogenic	1	156085016	156085016	C	T	criteria provided, single submitter	ClinGen:CA342808718
single nucleotide variant	NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	LMNA	Likely pathogenic	1	156105881	156105881	T	C	criteria provided, single submitter	ClinGen:CA342820546