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_000539.3(RHO):c.448G>A (p.Glu150Lys)	RHO	Pathogenic/Likely pathogenic	3	129249805	129249805	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122824,UniProtKB:P08100#VAR_004799,OMIM:180380.0033
single nucleotide variant	NM_000539.3(RHO):c.151G>C (p.Gly51Arg)	RHO	Pathogenic	3	129247727	129247727	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256687,UniProtKB:P08100#VAR_004776,OMIM:180380.0034
single nucleotide variant	NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	RHO	Pathogenic	3	129247917	129247917	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256688,UniProtKB:P08100#VAR_004791,OMIM:180380.0036
single nucleotide variant	NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	RHO	Pathogenic	3	129249848	129249848	C	A	criteria provided, single submitter	ClinGen:CA256689,UniProtKB:P08100#VAR_004800,OMIM:180380.0037
single nucleotide variant	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO	Pathogenic	3	129249868	129249868	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256690,UniProtKB:P08100#VAR_004805,OMIM:180380.0038
single nucleotide variant	NM_000539.3(RHO):c.1033G>C (p.Val345Leu)	RHO	Pathogenic	3	129252547	129252547	G	C	criteria provided, single submitter	ClinGen:CA256693,UniProtKB:P08100#VAR_004831,OMIM:180380.0040
single nucleotide variant	NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)	RHO	Pathogenic	3	129252554	129252554	C	A	criteria provided, single submitter	OMIM:180380.0041,ClinGen:CA256694,UniProtKB:P08100#VAR_004835
single nucleotide variant	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	RHO	Likely pathogenic	3	129247857	129247857	C	T	criteria provided, single submitter	ClinGen:CA122825,UniProtKB:P08100#VAR_004784,OMIM:180380.0042
single nucleotide variant	NM_000539.3(RHO):c.1033G>A (p.Val345Met)	RHO	Pathogenic/Likely pathogenic	3	129252547	129252547	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256697,UniProtKB:P08100#VAR_004832,OMIM:180380.0044
single nucleotide variant	NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	PDE6B	Pathogenic	4	647908	647908	C	T	criteria provided, multiple submitters, no conflicts	OMIM:180072.0001,ClinGen:CA256715