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_000283.4(PDE6B):c.2401C>T (p.Gln801Ter)	PDE6B	Pathogenic	4	661693	661693	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)	REEP6	Likely pathogenic	19	1496339	1496339	T	C	criteria provided, single submitter	ClinGen:CA16044006,OMIM:609346.0001
Deletion	NM_138393.4(REEP6):c.448del (p.Ala150fs)	REEP6	Pathogenic	19	1496380	1496380	CG	C	criteria provided, single submitter	ClinGen:CA16044054,OMIM:609346.0002
Duplication	NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs)	PRPF8	Likely pathogenic	17	1554130	1554131	A	AC	criteria provided, single submitter	ClinGen:CA16621697
single nucleotide variant	NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)	PRPF8	Pathogenic	17	1554174	1554174	C	G	criteria provided, single submitter	OMIM:607300.0007
single nucleotide variant	NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)	PRPF8	Pathogenic	17	1554175	1554175	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252742,UniProtKB:Q6P2Q9#VAR_022631,OMIM:607300.0003
single nucleotide variant	NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)	PRPF8	Pathogenic	17	1554176	1554176	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA397562024
single nucleotide variant	NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)	PRPF8	Pathogenic	17	1554178	1554178	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252740,UniProtKB:Q6P2Q9#VAR_022629,OMIM:607300.0001
single nucleotide variant	NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)	PRPF8	Pathogenic/Likely pathogenic	17	1554178	1554178	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252741,UniProtKB:Q6P2Q9#VAR_022628,OMIM:607300.0002
single nucleotide variant	NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)	PRPF8	Pathogenic/Likely pathogenic	17	1554192	1554192	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252744,UniProtKB:Q6P2Q9#VAR_022627,OMIM:607300.0005