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.1531C>T (p.Arg511Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94543269	94543269	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA958502,ClinVar:812192
single nucleotide variant	NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter)	IFT172	Pathogenic/Likely pathogenic	2	27700993	27700993	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1580787
single nucleotide variant	NM_000539.3(RHO):c.263T>C (p.Leu88Pro)	RHO	Likely pathogenic	3	129247839	129247839	T	C	criteria provided, single submitter	ClinGen:CA16604468
single nucleotide variant	NM_006269.2(RP1):c.2570C>G (p.Ser857Ter)	RP1	Pathogenic	8	55539012	55539012	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606128
single nucleotide variant	NM_015629.4(PRPF31):c.855+1G>A	PRPF31	Pathogenic	19	54628036	54628036	G	A	criteria provided, single submitter	ClinGen:CA407751566
Deletion	NM_006017.3(PROM1):c.622del (p.Thr208fs)	PROM1	Pathogenic/Likely pathogenic	4	16026823	16026823	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2867033
single nucleotide variant	NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	EYS	Pathogenic/Likely pathogenic	6	64694355	64694355	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609553
single nucleotide variant	NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)	RPGR	Pathogenic	X	38156585	38156585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616540
single nucleotide variant	NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)	OFD1	Pathogenic	X	13785371	13785371	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616638
single nucleotide variant	NM_001367823.1(ARHGEF18):c.1372A>G (p.Thr458Ala)	ARHGEF18	Likely pathogenic	19	7509101	7509101	A	G	criteria provided, single submitter	ClinGen:CA16616861,OMIM:616432.0001