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_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA	Likely pathogenic	1	156084808	156084808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018946,UniProtKB:P02545#VAR_039750
single nucleotide variant	NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)	TTN	Likely pathogenic	2	179460389	179460389	C	T	criteria provided, single submitter	-
Duplication	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	FKTN	Pathogenic/Likely pathogenic	9	108366764	108366765	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA221466
single nucleotide variant	NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)	DMD	Pathogenic	X	31198540	31198540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266851
single nucleotide variant	NM_004006.3(DMD):c.10086+1G>A	DMD	Pathogenic	X	31198486	31198486	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266854
single nucleotide variant	NM_004006.3(DMD):c.1012G>T (p.Glu338Ter)	DMD	Pathogenic	X	32663218	32663218	C	A	criteria provided, single submitter	ClinGen:CA266855
single nucleotide variant	NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)	DMD	Pathogenic	X	31196838	31196838	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266859
single nucleotide variant	NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)	DMD	Pathogenic	X	31196817	31196817	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.10223+1G>A	DMD	Pathogenic	X	31196785	31196785	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266865,OMIM:300377.0068
Duplication	NM_004006.3(DMD):c.10258dup (p.Ser3420fs)	DMD	Pathogenic	X	31196052	31196053	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA266867