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
Duplication	NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	EYS	Pathogenic/Likely pathogenic	6	66094366	66094367	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	PROM1	Pathogenic/Likely pathogenic	4	15982073	15982073	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000539.3(RHO):c.810C>A (p.Ser270Arg)	RHO	Pathogenic/Likely pathogenic	3	129251489	129251489	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	SNRNP200	Pathogenic/Likely pathogenic	2	96958829	96958829	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)	MERTK	Pathogenic/Likely pathogenic	2	112686980	112686980	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.1391G>A (p.Arg464His)	USH2A	Pathogenic/Likely pathogenic	1	216496975	216496975	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	USH2A	Pathogenic/Likely pathogenic	1	216052410	216052410	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1	Pathogenic/Likely pathogenic	1	197396685	197396685	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)	RHO	Pathogenic/Likely pathogenic	3	129249765	129249765	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94485162	94485162	C	T	criteria provided, multiple submitters, no conflicts	-