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
Deletion	NM_004006.2(DMD):c.(?_32)_(649_?)del	DMD	Pathogenic	X	32827610	33038317	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala)	MYH7	Likely pathogenic	14	23896483	23896483	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA389049527
single nucleotide variant	NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly)	MYH7	Likely pathogenic	14	23898488	23898488	G	C	criteria provided, single submitter	ClinGen:CA389051122
single nucleotide variant	NM_170707.4(LMNA):c.513+2T>G	LMNA	Likely pathogenic	1	156100566	156100566	T	G	criteria provided, single submitter	ClinGen:CA342815749
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540
single nucleotide variant	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN	Pathogenic/Likely pathogenic	2	179392275	179392275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60949220
Indel	NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs)	TTN	Likely pathogenic	2	179407073	179407078	ATACTC	GT	criteria provided, single submitter	ClinGen:CA658795966
single nucleotide variant	NM_001267550.2(TTN):c.91565-1G>A	TTN	Likely pathogenic	2	179415001	179415001	C	T	criteria provided, single submitter	ClinGen:CA349500060
single nucleotide variant	NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter)	TTN	Likely pathogenic	2	179416514	179416514	C	T	criteria provided, single submitter	ClinGen:CA349503675
single nucleotide variant	NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)	TTN	Likely pathogenic	2	179419764	179419764	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349527671