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.544G>A (p.Gly182Ser)	RHO	Pathogenic	3	129251107	129251107	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256679,UniProtKB:P08100#VAR_004809,OMIM:180380.0021
single nucleotide variant	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	RHO	Pathogenic	3	129251479	129251479	C	T	criteria provided, multiple submitters, no conflicts	OMIM:180380.0022,ClinGen:CA256680,UniProtKB:P08100#VAR_004825
single nucleotide variant	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	RHO	Pathogenic	3	129247905	129247905	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256681,UniProtKB:P08100#VAR_004790,OMIM:180380.0035
single nucleotide variant	NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	RHO	Pathogenic/Likely pathogenic	3	129251424	129251424	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA122820,OMIM:180380.0023
single nucleotide variant	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	RHO	Pathogenic	3	129247734	129247734	C	G	criteria provided, single submitter	ClinGen:CA256682,UniProtKB:P08100#VAR_004778,OMIM:180380.0024
single nucleotide variant	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO	Pathogenic/Likely pathogenic	3	129247892	129247892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256683,UniProtKB:P08100#VAR_004786,OMIM:180380.0025
single nucleotide variant	NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	RHO	Pathogenic	3	129251131	129251131	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256684,UniProtKB:P08100#VAR_004815,OMIM:180380.0027
single nucleotide variant	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO	Pathogenic	3	129247620	129247620	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256685,UniProtKB:P08100#VAR_004766,OMIM:180380.0029
single nucleotide variant	NM_000539.3(RHO):c.620T>G (p.Met207Arg)	RHO	Pathogenic	3	129251183	129251183	T	G	criteria provided, single submitter	ClinGen:CA256686,UniProtKB:P08100#VAR_004816,OMIM:180380.0028,OMIM:180380.0030
single nucleotide variant	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	RHO	Pathogenic	3	129247845	129247845	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122823,UniProtKB:P08100#VAR_004783,OMIM:180380.0032