網膜色素変性症

小児・神経疾患

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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_006343.3(MERTK):c.2323C>T (p.Arg775Ter)	MERTK	Pathogenic	2	112779132	112779132	C	T	criteria provided, single submitter	ClinGen:CA260612,OMIM:604705.0008
single nucleotide variant	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1	Pathogenic	1	197403836	197403836	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228022,UniProtKB:P82279#VAR_011645,OMIM:604210.0013
single nucleotide variant	NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)	OFD1	Pathogenic	X	13771530	13771530	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343946
single nucleotide variant	NM_003611.3(OFD1):c.111+2T>C	OFD1	Pathogenic	X	13753467	13753467	T	C	criteria provided, single submitter	ClinGen:CA222225
single nucleotide variant	NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	OFD1	Pathogenic	X	13754606	13754606	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343958
Deletion	NM_003611.3(OFD1):c.1220_1221+1del	OFD1	Likely pathogenic	X	13773359	13773361	TGAG	T	criteria provided, single submitter	-
Deletion	NM_003611.3(OFD1):c.162_166del (p.Ser54fs)	OFD1	Pathogenic	X	13754644	13754648	TGAGTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)	OFD1	Pathogenic	X	13754745	13754745	A	G	criteria provided, single submitter	ClinGen:CA343997
Deletion	NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	OFD1	Pathogenic	X	13757136	13757139	TAAAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344012
Duplication	NM_003611.3(OFD1):c.431dup (p.Leu144fs)	OFD1	Pathogenic	X	13762546	13762547	A	AT	criteria provided, single submitter	ClinGen:CA344018