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_000256.3(MYBPC3):c.906-1G>C	MYBPC3	Pathogenic	11	47368581	47368581	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016027,OMIM:600958.0017
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+2T>G	MYBPC3	Pathogenic	11	47354743	47354743	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013951,OMIM:600958.0020
single nucleotide variant	NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)	SDHA	Pathogenic/Likely pathogenic	5	251126	251126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119880,UniProtKB:P31040#VAR_016878,OMIM:600857.0002
single nucleotide variant	NM_004168.4(SDHA):c.1A>C (p.Met1Leu)	SDHA	Pathogenic	5	218471	218471	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119881,OMIM:600857.0003
single nucleotide variant	NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)	SDHA	Pathogenic	5	251453	251453	G	A	criteria provided, single submitter	ClinGen:CA119883,UniProtKB:P31040#VAR_016879,OMIM:600857.0004
single nucleotide variant	NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	PSEN2	Pathogenic	1	227073304	227073304	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224953,UniProtKB:P49810#VAR_006462,OMIM:600759.0001
single nucleotide variant	NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	PSEN2	Pathogenic/Likely pathogenic	1	227073246	227073246	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224950,UniProtKB:P49810#VAR_009214,OMIM:600759.0005
single nucleotide variant	NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)	DMD	Pathogenic	X	32503048	32503048	C	A	criteria provided, single submitter	ClinGen:CA341019,OMIM:300377.0003
single nucleotide variant	NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)	DMD	Pathogenic	X	32364095	32364095	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341022,OMIM:300377.0004
single nucleotide variant	NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)	DMD	Pathogenic	X	31462738	31462738	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273079,OMIM:300377.0005