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_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65	Pathogenic	1	68912507	68912507	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226506,UniProtKB:Q16518#VAR_017128
single nucleotide variant	NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	RPE65	Pathogenic/Likely pathogenic	1	68896814	68896814	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226513
single nucleotide variant	NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	RPE65	Likely pathogenic	1	68896780	68896780	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226515,UniProtKB:Q16518#VAR_060823
single nucleotide variant	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	RPE65	Pathogenic/Likely pathogenic	1	68895610	68895610	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226517
single nucleotide variant	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65	Pathogenic	1	68910540	68910540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226533,UniProtKB:Q16518#VAR_017131
single nucleotide variant	NM_000329.3(RPE65):c.283G>C (p.Glu95Gln)	RPE65	Likely pathogenic	1	68910529	68910529	C	G	criteria provided, single submitter	ClinGen:CA226535,UniProtKB:Q16518#VAR_060811
Deletion	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	RPE65	Pathogenic	1	68910501	68910520	GCCAAATTCTGTTATGACGAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226536
single nucleotide variant	NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	RPE65	Likely pathogenic	1	68915587	68915587	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226537
single nucleotide variant	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	RPE65	Pathogenic	1	68910508	68910508	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226540
single nucleotide variant	NM_000329.3(RPE65):c.311G>T (p.Gly104Val)	RPE65	Likely pathogenic	1	68910501	68910501	C	A	criteria provided, single submitter	ClinGen:CA226542