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
Deletion	NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)	DMD	Pathogenic	X	31187660	31187660	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605447
Duplication	NM_004006.3(DMD):c.1530dup (p.Thr511fs)	DMD	Pathogenic	X	32613945	32613946	T	TG	criteria provided, single submitter	ClinGen:CA10605448
single nucleotide variant	NM_004006.3(DMD):c.6223C>T (p.Gln2075Ter)	DMD	Pathogenic	X	32305713	32305713	G	A	criteria provided, single submitter	ClinGen:CA10605510
single nucleotide variant	NM_000337.6(SGCD):c.443T>A (p.Leu148Ter)	SGCD	Pathogenic	5	156022002	156022002	T	A	criteria provided, single submitter	ClinGen:CA10605547
Deletion	NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs)	TTN	Likely pathogenic	2	179395736	179395737	CCA	C	criteria provided, single submitter	ClinGen:CA10605549
single nucleotide variant	NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)	DMD	Pathogenic	X	32429928	32429928	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605586
Indel	Single allele	DMD	Pathogenic	X	32472914	32472915	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3747G>A (p.Trp1249Ter)	DMD	Pathogenic	X	32466612	32466612	C	T	criteria provided, single submitter	ClinGen:CA10605765
Deletion	NM_004006.3(DMD):c.1956del (p.Asp652fs)	DMD	Pathogenic/Likely pathogenic	X	32583855	32583855	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605771
Deletion	NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)	DMD	Pathogenic	X	31196883	31196883	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605812,LOVD 3:DMD_000063,OMIM:300377.0024,ClinVar:11234