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.6386+1G>A	ABCA4	Pathogenic	1	94466557	94466557	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006017.3(PROM1):c.630+2T>A	PROM1	Likely pathogenic	4	16026813	16026813	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000440.3(PDE6A):c.1620+1G>A	PDE6A	Pathogenic/Likely pathogenic	5	149275918	149275918	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006269.2(RP1):c.788-2A>T	RP1	Pathogenic	8	55537228	55537228	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015629.4(PRPF31):c.421-2A>G	PRPF31	Pathogenic	19	54626831	54626831	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001034853.2(RPGR):c.155-1G>A	RPGR	Pathogenic	X	38182199	38182199	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)	USH2A	Likely pathogenic	1	216011358	216011358	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)	USH2A	Pathogenic	1	216424384	216424384	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)	RPE65	Likely pathogenic	1	68910483	68910483	T	C	criteria provided, single submitter	-
Deletion	NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)	ABCA4	Pathogenic	1	94496583	94496583	CA	C	criteria provided, single submitter	-