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_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)	ABCA4	Pathogenic	1	94528714	94528714	G	A	criteria provided, multiple submitters, no conflicts	-
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_001142800.2(EYS):c.2811C>A (p.Cys937Ter)	EYS	Pathogenic	6	65612041	65612041	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter)	RP1L1	Likely pathogenic	8	10466006	10466006	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter)	RP1L1	Likely pathogenic	8	10470059	10470059	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)	RP1	Pathogenic	8	55538067	55538067	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006269.2(RP1):c.2296C>T (p.Gln766Ter)	RP1	Pathogenic/Likely pathogenic	8	55538738	55538738	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)	IFT140	Pathogenic	16	1576000	1576000	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)	IFT140	Likely pathogenic	16	1576058	1576058	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015629.4(PRPF31):c.220C>T (p.Gln74Ter)	PRPF31	Pathogenic	19	54621995	54621995	C	T	criteria provided, single submitter	-