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_152443.3(RDH12):c.609C>A (p.Ser203Arg)	RDH12	Pathogenic	14	68193858	68193858	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_152443.3(RDH12):c.784dup (p.Ala262fs)	RDH12	Pathogenic	14	68196028	68196029	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	RDH12	Pathogenic/Likely pathogenic	14	68200497	68200497	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014249.4(NR2E3):c.301C>T (p.Gln101Ter)	NR2E3	Pathogenic	15	72104161	72104161	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)	BBS2	Pathogenic	16	56536359	56536359	T	C	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_197268194)_(197268492_?)del	CRB1	Pathogenic	1	197237324	197237622	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_216078079)_(216078372_?)del	USH2A	Pathogenic	1	216251421	216251714	na	na	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_215914707)_(215933195_?)dup	USH2A	Pathogenic	1	215914707	215933195	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_216292165)_(216327664_?)del	USH2A	Pathogenic	1	216465507	216501006	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_46190463)_(46190794_?)del	POMGNT1	Pathogenic	1	46656135	46656466	na	na	criteria provided, single submitter	-