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_201253.3(CRB1):c.2072G>A (p.Trp691Ter)	CRB1	Pathogenic	1	197391030	197391030	G	A	criteria provided, single submitter	-
Deletion	NM_201253.3(CRB1):c.4039del (p.Thr1347fs)	CRB1	Pathogenic	1	197446827	197446827	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)	RPE65	Pathogenic	1	68904907	68904907	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000350.3(ABCA4):c.1765del (p.Trp589fs)	ABCA4	Pathogenic	1	94528305	94528305	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003611.3(OFD1):c.655-2A>G	OFD1	Pathogenic	X	13764897	13764897	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.2587+2T>C	ABCA4	Pathogenic	1	94520665	94520665	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014714.4(IFT140):c.903-1G>A	IFT140	Likely pathogenic	16	1637306	1637306	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)	DHX38	Likely pathogenic	16	72133641	72133641	G	A	criteria provided, single submitter	OMIM:605584.0002
Deletion	NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)	USH2A	Pathogenic/Likely pathogenic	1	216380634	216380635	CTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)	RPGR	Pathogenic	X	38182652	38182652	C	T	criteria provided, multiple submitters, no conflicts	-