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.3244del (p.Ser1082fs)	SCN5A	Pathogenic/Likely pathogenic	3	38620968	38620968	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617948
single nucleotide variant	NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)	DMD	Pathogenic/Likely pathogenic	X	32481630	32481630	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	DSG2	Pathogenic/Likely pathogenic	18	29118885	29118886	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.512_516del (p.Leu171fs)	DSG2	Pathogenic/Likely pathogenic	18	29101191	29101195	AGAGTT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5026-2A>G	DMD	Pathogenic/Likely pathogenic	X	32382829	32382829	T	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	-
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	-
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_000335.5(SCN5A):c.4191del (p.Val1399fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601689	38601689	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617947
Deletion	NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372151	47372160	CATGGGCTCTG	C	criteria provided, multiple submitters, no conflicts	-