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_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)	PRPH2	Pathogenic	6	42689576	42689576	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA236256
single nucleotide variant	NM_006269.2(RP1):c.607G>A (p.Gly203Arg)	RP1	Likely pathogenic	8	55534133	55534133	G	A	criteria provided, single submitter	ClinGen:CA236296
single nucleotide variant	NM_006915.3(RP2):c.2T>C (p.Met1Thr)	RP2	Pathogenic	X	46696537	46696537	T	C	criteria provided, single submitter	ClinGen:CA236346
Deletion	NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)	RP1	Pathogenic/Likely pathogenic	8	55538159	55538163	TAACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA236463
Duplication	NM_201253.3(CRB1):c.1459dup (p.Ser487fs)	CRB1	Pathogenic	1	197390414	197390415	C	CT	criteria provided, single submitter	ClinGen:CA279286
single nucleotide variant	NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)	CRB1	Pathogenic	1	197398685	197398685	G	A	criteria provided, single submitter	ClinGen:CA279259
Deletion	NM_000350.3(ABCA4):c.2927del (p.Leu976fs)	ABCA4	Pathogenic	1	94510292	94510292	CA	C	criteria provided, single submitter	ClinGen:CA279296
single nucleotide variant	NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)	PCARE	Pathogenic	2	29296416	29296416	T	A	criteria provided, single submitter	ClinGen:CA279265
single nucleotide variant	NM_000283.4(PDE6B):c.1060-1G>T	PDE6B	Pathogenic	4	650033	650033	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279322
single nucleotide variant	NM_006269.2(RP1):c.679T>G (p.Phe227Val)	RP1	Pathogenic	8	55534740	55534740	T	G	criteria provided, single submitter	ClinGen:CA279284