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_001034853.2(RPGR):c.644G>T (p.Gly215Val)	RPGR	Likely pathogenic	X	38170002	38170002	C	A	criteria provided, single submitter	ClinGen:CA226433,UniProtKB:Q92834#VAR_008505
single nucleotide variant	NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)	RPGR	Likely pathogenic	X	38163917	38163917	C	T	criteria provided, single submitter	ClinGen:CA226459,UniProtKB:Q92834#VAR_018064
single nucleotide variant	NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)	RPE65	Likely pathogenic	1	68896996	68896996	C	A	criteria provided, single submitter	ClinGen:CA226505,UniProtKB:Q16518#VAR_060821
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.283G>C (p.Glu95Gln)	RPE65	Likely pathogenic	1	68910529	68910529	C	G	criteria provided, single submitter	ClinGen:CA226535,UniProtKB:Q16518#VAR_060811
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.311G>T (p.Gly104Val)	RPE65	Likely pathogenic	1	68910501	68910501	C	A	criteria provided, single submitter	ClinGen:CA226542
single nucleotide variant	NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)	ABCA4	Likely pathogenic	1	94528281	94528281	G	A	criteria provided, single submitter	ClinGen:CA226926
single nucleotide variant	NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)	ABCA4	Likely pathogenic	1	94577118	94577118	C	T	criteria provided, single submitter	ClinGen:CA226928,UniProtKB:P78363#VAR_012497
single nucleotide variant	NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu)	ABCA4	Likely pathogenic	1	94528248	94528248	A	G	criteria provided, single submitter	ClinGen:CA226938