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_001267550.2(TTN):c.67415G>A (p.Trp22472Ter)	TTN	Pathogenic	2	179444509	179444509	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004100.5(EYA4):c.409C>T (p.Gln137Ter)	EYA4	Pathogenic	6	133782290	133782290	C	T	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)	SCN5A	Pathogenic/Likely pathogenic	3	38601884	38601888	TGGACG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372736
single nucleotide variant	NM_000335.5(SCN5A):c.393-2A>G	SCN5A	Likely pathogenic	3	38663982	38663982	T	C	criteria provided, single submitter	ClinGen:CA352154923
single nucleotide variant	NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)	FKTN	Pathogenic/Likely pathogenic	9	108363620	108363620	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN	Pathogenic/Likely pathogenic	9	108370208	108370208	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)	FKTN	Likely pathogenic	9	108397335	108397335	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004281.4(BAG3):c.20C>A (p.Ser7Ter)	BAG3	Likely pathogenic	10	121411207	121411207	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter)	BAG3	Likely pathogenic	10	121436483	121436483	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu)	SCN5A	Pathogenic	3	38592567	38592567	T	A	criteria provided, single submitter	ClinGen:CA352141606