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_000335.5(SCN5A):c.4191del (p.Val1399fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601689	38601689	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617947
single nucleotide variant	NM_001943.5(DSG2):c.45+1G>A	DSG2	Likely pathogenic	18	29078260	29078260	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2257del (p.Ala753fs)	DSG2	Pathogenic/Likely pathogenic	18	29122735	29122735	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)	DSG2	Pathogenic/Likely pathogenic	18	29125877	29125877	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs)	DSG2	Pathogenic/Likely pathogenic	18	29126107	29126108	G	GTAGC	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000023.10:g.(?_31224679)_(31382270_?)dup	DMD	Pathogenic	X	31224679	31382270	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31496768)_(31875393_?)del	DMD	Pathogenic	X	31514885	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32438221)_(32699313_?)del	DMD	Pathogenic	X	32456338	32717430	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32484899)_(32699313_?)del	DMD	Pathogenic	X	32503016	32717430	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32595737)_(32699313_?)del	DMD	Pathogenic	X	32613854	32717430	na	na	criteria provided, single submitter	-