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
Deletion	NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	RP1	Likely pathogenic	8	55537940	55537941	CAT	C	criteria provided, single submitter	ClinGen:CA4751389
Deletion	NM_006269.2(RP1):c.2172_2185del (p.Ile725fs)	RP1	Pathogenic	8	55538610	55538623	GGAGGGATACTTTGT	G	criteria provided, single submitter	ClinGen:CA645509466
Duplication	NM_006269.2(RP1):c.2206dup (p.Thr736fs)	RP1	Pathogenic	8	55538647	55538648	T	TA	criteria provided, single submitter	ClinGen:CA645509467
single nucleotide variant	NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)	RP1	Pathogenic/Likely pathogenic	8	55538661	55538661	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA370993031
Deletion	NM_006269.2(RP1):c.2596_2597del (p.Leu866fs)	RP1	Pathogenic	8	55539037	55539038	CTT	C	criteria provided, single submitter	ClinGen:CA645509469
Duplication	NM_006269.2(RP1):c.2613dup (p.Arg872fs)	RP1	Pathogenic/Likely pathogenic	8	55539049	55539050	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA461098987
single nucleotide variant	NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)	RP1	Likely pathogenic	8	55539098	55539098	C	T	criteria provided, single submitter	ClinGen:CA370994333
Deletion	NM_006269.2(RP1):c.3843del (p.Pro1282fs)	RP1	Pathogenic	8	55540279	55540279	CT	C	criteria provided, single submitter	ClinGen:CA645509462
Deletion	NM_033100.4(CDHR1):c.1463del (p.Gly488fs)	CDHR1	Pathogenic	10	85970895	85970895	AG	A	criteria provided, single submitter	ClinGen:CA501195,OMIM:609502.0003
single nucleotide variant	NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)	CDHR1	Pathogenic	10	85971445	85971445	T	G	criteria provided, single submitter	ClinGen:CA377377258