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_006269.2(RP1):c.742C>T (p.Gln248Ter)	RP1	Pathogenic	8	55534803	55534803	C	T	criteria provided, single submitter	ClinGen:CA10581671
Deletion	NM_006269.2(RP1):c.1462del (p.Glu488fs)	RP1	Pathogenic	8	55537904	55537904	AG	A	criteria provided, single submitter	ClinGen:CA10581672
single nucleotide variant	NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)	RP1	Pathogenic	8	55538474	55538474	C	T	criteria provided, single submitter	ClinGen:CA10581673
single nucleotide variant	NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)	RP1	Pathogenic	8	55539191	55539191	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581674
Deletion	NM_152443.3(RDH12):c.648_658+20del	RDH12	Likely pathogenic	14	68193896	68193926	AAGAGGCTCCAAGGTAAGTCTGGAGAAAGAGG	A	criteria provided, single submitter	ClinGen:CA10581694
single nucleotide variant	NM_152443.3(RDH12):c.848+2T>C	RDH12	Pathogenic	14	68196099	68196099	T	C	criteria provided, single submitter	ClinGen:CA10581695
Duplication	NM_018418.5(SPATA7):c.1058dup (p.Ser354fs)	SPATA7	Pathogenic	14	88897540	88897541	G	GC	criteria provided, single submitter	ClinGen:CA7298700
Duplication	NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	CNGB1	Pathogenic/Likely pathogenic	16	57938727	57938728	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA8082930
single nucleotide variant	NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)	PRPF31	Pathogenic/Likely pathogenic	19	54631562	54631562	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309329313
single nucleotide variant	NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)	AGBL5	Likely pathogenic	2	27278096	27278096	G	A	criteria provided, single submitter	ClinGen:CA10584033,UniProtKB:Q8NDL9#VAR_077019,OMIM:615900.0001