特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)	RBM20	Pathogenic	10	112572068	112572068	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251405,OMIM:613171.0001
single nucleotide variant	NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)	RBM20	Pathogenic/Likely pathogenic	10	112572056	112572056	G	A	criteria provided, multiple submitters, no conflicts	OMIM:613171.0002,ClinGen:CA251408
single nucleotide variant	NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)	RBM20	Pathogenic/Likely pathogenic	10	112572061	112572061	C	A	criteria provided, multiple submitters, no conflicts	OMIM:613171.0003,ClinGen:CA251411
single nucleotide variant	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	RBM20	Pathogenic/Likely pathogenic	10	112572062	112572062	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251414,OMIM:613171.0004
single nucleotide variant	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN	Pathogenic	9	108358912	108358912	C	T	criteria provided, multiple submitters, no conflicts	OMIM:607440.0002,ClinGen:CA116054
Deletion	NM_001079802.2(FKTN):c.187_188del (p.Met63fs)	FKTN	Pathogenic	9	108363446	108363447	TTA	T	criteria provided, single submitter	ClinGen:CA116059,OMIM:607440.0003
Duplication	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN	Pathogenic	9	108382330	108382331	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA116060,OMIM:607440.0005
single nucleotide variant	NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)	FKTN	Pathogenic	9	108366653	108366653	T	C	criteria provided, single submitter	ClinGen:CA116061,UniProtKB:O75072#VAR_065052,OMIM:607440.0015
Duplication	NM_001079802.2(FKTN):c.454dup (p.Ser152fs)	FKTN	Pathogenic	9	108366579	108366580	C	CT	criteria provided, single submitter	ClinGen:CA116065,OMIM:607440.0006
single nucleotide variant	NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	FKTN	Pathogenic	9	108363606	108363606	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116066,OMIM:607440.0007