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.2613G>A (p.Trp871Ter)	ABCA4	Likely pathogenic	1	94517229	94517229	C	T	criteria provided, single submitter	-
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_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_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_000539.3(RHO):c.934C>T (p.Gln312Ter)	RHO	Pathogenic	3	129251613	129251613	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000539.3(RHO):c.1033G>T (p.Val345Leu)	RHO	Pathogenic	3	129252547	129252547	G	T	criteria provided, single submitter	-
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_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)	PDE6A	Pathogenic	5	149278046	149278046	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)	MAK	Pathogenic	6	10802142	10802142	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000322.5(PRPH2):c.811del (p.Leu271fs)	PRPH2	Pathogenic	6	42672120	42672120	AG	A	criteria provided, single submitter	-