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_000335.5(SCN5A):c.535C>T (p.Arg179Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38662410	38662410	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001079802.2(FKTN):c.528dup (p.His177fs)	FKTN	Pathogenic/Likely pathogenic	9	108366651	108366652	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1705-2A>G	DMD	Pathogenic/Likely pathogenic	X	32591756	32591756	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38616881	38616881	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38608056	38608056	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	DMD	Pathogenic/Likely pathogenic	X	32632551	32632551	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)	DMD	Pathogenic/Likely pathogenic	X	31366742	31366742	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	DSG2	Pathogenic/Likely pathogenic	18	29078217	29078217	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_032578.4(MYPN):c.3127del (p.Ser1043fs)	MYPN	Pathogenic/Likely pathogenic	10	69955258	69955258	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3	Pathogenic/Likely pathogenic	10	121431884	121431884	C	T	criteria provided, multiple submitters, no conflicts	-