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.2376G>A (p.Trp792Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47359278	47359278	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279280
single nucleotide variant	NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47359283	47359283	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279318
Deletion	NM_000256.3(MYBPC3):c.306del (p.Met103fs)	MYBPC3	Likely pathogenic	11	47372153	47372153	TG	T	criteria provided, single submitter	ClinGen:CA279289
Duplication	NM_000256.3(MYBPC3):c.227dup (p.Ser78fs)	MYBPC3	Likely pathogenic	11	47372854	47372855	C	CT	criteria provided, single submitter	ClinGen:CA279311
single nucleotide variant	NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys)	MYH7	Likely pathogenic	14	23889422	23889422	C	T	criteria provided, single submitter	ClinGen:CA279329
single nucleotide variant	NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys)	MYH7	Likely pathogenic	14	23893145	23893145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279332
single nucleotide variant	NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly)	MYH7	Likely pathogenic	14	23894133	23894133	T	C	criteria provided, single submitter	ClinGen:CA279325
single nucleotide variant	NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr)	MYH7	Likely pathogenic	14	23894623	23894623	A	T	criteria provided, single submitter	ClinGen:CA279312
single nucleotide variant	NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro)	MYH7	Likely pathogenic	14	23894989	23894989	T	G	criteria provided, single submitter	ClinGen:CA279297,UniProtKB:P12883#VAR_042800
single nucleotide variant	NM_000257.4(MYH7):c.2156G>C (p.Arg719Pro)	MYH7	Likely pathogenic	14	23895179	23895179	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277665