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_004281.4(BAG3):c.481C>T (p.Gln161Ter)	BAG3	Pathogenic	10	121429663	121429663	C	T	criteria provided, single submitter	ClinGen:CA10587694
Duplication	NM_004281.4(BAG3):c.1292dup (p.Val432fs)	BAG3	Pathogenic	10	121436356	121436357	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587696
single nucleotide variant	NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter)	MYBPC3	Pathogenic	11	47357438	47357438	G	T	criteria provided, single submitter	ClinGen:CA10587726
single nucleotide variant	NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter)	MYBPC3	Pathogenic	11	47360221	47360221	C	A	criteria provided, single submitter	ClinGen:CA10587727
single nucleotide variant	NM_000257.4(MYH7):c.2081G>A (p.Arg694His)	MYH7	Pathogenic/Likely pathogenic	14	23895254	23895254	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587775,UniProtKB:P12883#VAR_029437
single nucleotide variant	NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn)	MYH7	Likely pathogenic	14	23894569	23894569	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587779,UniProtKB:P12883#VAR_020813
single nucleotide variant	NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)	TPM1	Likely pathogenic	15	63349193	63349193	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA028881
single nucleotide variant	NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)	TTN	Pathogenic/Likely pathogenic	2	179429822	179429822	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588325
Indel	NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs)	TTN	Pathogenic	2	179441848	179441851	TTGG	AGA	criteria provided, single submitter	ClinGen:CA10588326
single nucleotide variant	NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)	TTN	Pathogenic/Likely pathogenic	2	179478597	179478597	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588327