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_003280.3(TNNC1):c.141G>T (p.Met47Ile)	TNNC1	Likely pathogenic	3	52486183	52486183	C	A	criteria provided, single submitter	ClinGen:CA10588371
single nucleotide variant	NM_020297.4(ABCC9):c.3460C>G (p.Arg1154Gly)	ABCC9	Pathogenic	12	21995261	21995261	G	C	criteria provided, single submitter	ClinGen:CA10588545
single nucleotide variant	NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)	MYH7	Pathogenic/Likely pathogenic	14	23894580	23894580	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588572,UniProtKB:P12883#VAR_019860
Deletion	NM_004006.3(DMD):c.10150del (p.Arg3384fs)	DMD	Pathogenic	X	31196859	31196859	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588764
Deletion	NM_004006.3(DMD):c.9503del (p.Leu3168fs)	DMD	Pathogenic	X	31227675	31227675	CA	C	criteria provided, single submitter	ClinGen:CA10588765
Deletion	NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)	DMD	Pathogenic	X	31227704	31227707	CATAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588766,LOVD 3:DMD_000065,OMIM:300377.0065
single nucleotide variant	NM_004006.3(DMD):c.9148C>T (p.Gln3050Ter)	DMD	Pathogenic	X	31366688	31366688	G	A	criteria provided, single submitter	ClinGen:CA10588767
single nucleotide variant	NM_004006.3(DMD):c.8218-2A>G	DMD	Pathogenic	X	31525572	31525572	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588768
single nucleotide variant	NM_004006.3(DMD):c.6762+1G>T	DMD	Pathogenic	X	31950196	31950196	C	A	criteria provided, single submitter	ClinGen:CA10588769
single nucleotide variant	NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)	DMD	Pathogenic	X	32380916	32380916	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588770