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_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	MYH7	Likely pathogenic	14	23894049	23894049	G	A	reviewed by expert panel	ClinGen:CA012732,UniProtKB:P12883#VAR_020816
single nucleotide variant	NM_000257.4(MYH7):c.958G>A (p.Val320Met)	MYH7	Pathogenic/Likely pathogenic	14	23899810	23899810	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017003,UniProtKB:P12883#VAR_020803
single nucleotide variant	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3	Pathogenic/Likely pathogenic	19	55665463	55665463	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021738
single nucleotide variant	NM_170707.4(LMNA):c.1968+5G>A	LMNA	Pathogenic	1	156108553	156108553	G	A	criteria provided, single submitter	ClinGen:CA347068,OMIM:150330.0056
single nucleotide variant	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47353795	47353795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014549
single nucleotide variant	NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter)	MYH7	Likely pathogenic	14	23889431	23889431	C	A	criteria provided, single submitter	ClinGen:CA013629
single nucleotide variant	NM_004006.3(DMD):c.1812+1G>A	DMD	Pathogenic/Likely pathogenic	X	32591646	32591646	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273064
single nucleotide variant	NM_170707.4(LMNA):c.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570
single nucleotide variant	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2	Pathogenic/Likely pathogenic	1	201328345	201328345	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005312
single nucleotide variant	NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)	TNNT2	Likely pathogenic	1	201328765	201328765	G	T	criteria provided, single submitter	ClinGen:CA005173