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_004006.3(DMD):c.8680G>T (p.Glu2894Ter)	DMD	Pathogenic	X	31496480	31496480	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273299
single nucleotide variant	NM_004006.3(DMD):c.3532G>T (p.Glu1178Ter)	DMD	Pathogenic	X	32472850	32472850	C	A	criteria provided, single submitter	ClinGen:CA273307
single nucleotide variant	NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	DMD	Pathogenic	X	32716064	32716064	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273321
single nucleotide variant	NM_004006.3(DMD):c.9164-1G>C	DMD	Pathogenic	X	31341776	31341776	C	G	criteria provided, single submitter	ClinGen:CA273298
single nucleotide variant	NM_004006.3(DMD):c.5363C>G (p.Ser1788Ter)	DMD	Pathogenic	X	32366608	32366608	G	C	criteria provided, single submitter	ClinGen:CA273304
single nucleotide variant	NM_004006.3(DMD):c.4806A>T (p.Gly1602=)	DMD	Pathogenic	X	32398666	32398666	T	A	criteria provided, single submitter	ClinGen:CA233559
single nucleotide variant	NM_004006.3(DMD):c.2484T>G (p.Tyr828Ter)	DMD	Pathogenic	X	32509532	32509532	A	C	criteria provided, single submitter	ClinGen:CA273316
Duplication	NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)	MYBPC3	Pathogenic	11	47367806	47367810	A	ATGCCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA273429
Duplication	NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47354519	47354520	C	CCACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA273443
Duplication	NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372866	47372867	G	GCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA273635