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_001142800.2(EYS):c.103C>T (p.Gln35Ter)	EYS	Pathogenic	6	66205201	66205201	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)	PRPF31	Pathogenic	19	54632662	54632662	C	T	criteria provided, single submitter	-
Deletion	NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	RPGR	Pathogenic/Likely pathogenic	X	38145868	38145868	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)	USH2A	Pathogenic	1	216373119	216373119	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)	USH2A	Pathogenic/Likely pathogenic	1	215853634	215853634	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)	CRB1	Pathogenic	1	197397003	197397003	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)	DHDDS	Pathogenic	1	26784353	26784353	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000329.3(RPE65):c.10del (p.Gln4fs)	RPE65	Pathogenic	1	68915579	68915579	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)	IFT172	Pathogenic	2	27702991	27702991	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001278293.3(ARL6):c.185+1G>C	ARL6	Pathogenic	3	97499065	97499065	G	C	criteria provided, single submitter	-