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_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)	USH2A	Pathogenic/Likely pathogenic	1	216073536	216073536	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269919
single nucleotide variant	NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu)	PRPF4	Likely pathogenic	9	116050463	116050463	C	T	criteria provided, single submitter	ClinGen:CA170079,UniProtKB:O43172#VAR_071872,OMIM:607795.0001
single nucleotide variant	NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn)	PDE6B	Pathogenic/Likely pathogenic	4	654392	654392	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270010,UniProtKB:P35913#VAR_009291
single nucleotide variant	NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)	PRPH2	Pathogenic/Likely pathogenic	6	42689663	42689663	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270013
single nucleotide variant	NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	PRPH2	Pathogenic/Likely pathogenic	6	42689574	42689574	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270015
single nucleotide variant	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94471025	94471025	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA232815
single nucleotide variant	NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)	ABCA4	Likely pathogenic	1	94564355	94564355	G	A	criteria provided, single submitter	ClinGen:CA170081
single nucleotide variant	NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	RHO	Pathogenic/Likely pathogenic	3	129247756	129247756	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270021
single nucleotide variant	NM_000539.3(RHO):c.562G>A (p.Gly188Arg)	RHO	Pathogenic	3	129251125	129251125	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270025,UniProtKB:P08100#VAR_004812
single nucleotide variant	NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)	PRCD	Pathogenic	17	74536225	74536225	T	C	criteria provided, single submitter	ClinGen:CA270040