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.370C>T (p.Arg124Ter)	RPE65	Pathogenic	1	68910339	68910339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226545
single nucleotide variant	NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	RPE65	Pathogenic	1	68910279	68910279	A	C	criteria provided, single submitter	ClinGen:CA226550,UniProtKB:Q16518#VAR_017133
Duplication	NM_000329.3(RPE65):c.495+1dup	RPE65	Pathogenic	1	68910212	68910213	A	AC	criteria provided, single submitter	ClinGen:CA226556
single nucleotide variant	NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	RPE65	Pathogenic/Likely pathogenic	1	68906680	68906680	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226557,UniProtKB:Q16518#VAR_060814
single nucleotide variant	NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	RPE65	Pathogenic	1	68906635	68906635	G	A	criteria provided, single submitter	ClinGen:CA226559,UniProtKB:Q16518#VAR_017134
Deletion	NM_000329.3(RPE65):c.57_58del (p.Glu20fs)	RPE65	Pathogenic	1	68914343	68914344	TCC	T	criteria provided, single submitter	ClinGen:CA226562
Deletion	NM_000329.3(RPE65):c.615_616del (p.Ile206fs)	RPE65	Pathogenic	1	68906563	68906564	ATG	A	criteria provided, single submitter	ClinGen:CA226567
single nucleotide variant	NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	RPE65	Pathogenic	1	68914336	68914336	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226576,UniProtKB:Q16518#VAR_017126
single nucleotide variant	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	RPE65	Pathogenic	1	68905254	68905254	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226579,UniProtKB:Q16518#VAR_060816
single nucleotide variant	NM_000329.3(RPE65):c.858+1G>A	RPE65	Pathogenic	1	68904873	68904873	C	T	criteria provided, single submitter	ClinGen:CA226582