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.858+1G>T	RPE65	Pathogenic	1	68904873	68904873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226583
single nucleotide variant	NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	RPE65	Pathogenic	1	68904764	68904764	C	A	criteria provided, single submitter	ClinGen:CA226585,UniProtKB:Q16518#VAR_017135
Duplication	NM_000329.3(RPE65):c.89dup (p.Thr31fs)	RPE65	Pathogenic/Likely pathogenic	1	68914311	68914312	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA226588
single nucleotide variant	NM_000329.3(RPE65):c.95-2A>T	RPE65	Pathogenic	1	68912545	68912545	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226591
single nucleotide variant	NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	RPE65	Pathogenic/Likely pathogenic	1	68904671	68904671	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226592
Duplication	NM_000329.3(RPE65):c.962dup (p.Asn321fs)	RPE65	Pathogenic	1	68904660	68904661	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA226596
single nucleotide variant	NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	RPE65	Pathogenic	1	68904634	68904634	C	T	criteria provided, single submitter	ClinGen:CA226599,UniProtKB:Q16518#VAR_060818
single nucleotide variant	NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94546126	94546126	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226858,UniProtKB:P78363#VAR_008409
Deletion	NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)	ABCA4	Pathogenic/Likely pathogenic	1	94546095	94546108	CCTTATAGTTATTGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226861
single nucleotide variant	NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter)	ABCA4	Pathogenic	1	94546067	94546067	T	A	criteria provided, single submitter	ClinGen:CA226866