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_004006.3(DMD):c.9568C>T (p.Arg3190Ter)	DMD	Pathogenic	X	31224780	31224780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273076,OMIM:300377.0076
single nucleotide variant	NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)	DMD	Pathogenic	X	32456489	32456489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255776,OMIM:300377.0077
Deletion	NM_004006.3(DMD):c.377del (p.Asn126fs)	DMD	Pathogenic	X	32834738	32834738	AT	A	criteria provided, single submitter	OMIM:300377.0078
single nucleotide variant	NM_004006.3(DMD):c.9225-285A>G	DMD	Pathogenic	X	31279418	31279418	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255779,OMIM:300377.0080
single nucleotide variant	NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)	DMD	Pathogenic	X	31496447	31496447	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273082,OMIM:300377.0082
single nucleotide variant	NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)	TNNT2	Pathogenic	1	201334766	201334766	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004157,OMIM:191045.0001
single nucleotide variant	NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	TNNT2	Pathogenic/Likely pathogenic	1	201334425	201334425	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004273,OMIM:191045.0002
single nucleotide variant	NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)	TNNT2	Pathogenic	1	201334372	201334372	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004383,UniProtKB:P45379#VAR_007607,OMIM:191045.0005
single nucleotide variant	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2	Pathogenic	1	201333464	201333464	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007
single nucleotide variant	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2	Pathogenic/Likely pathogenic	1	201333494	201333494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090410,OMIM:191045.0008