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.316G>T (p.Gly106Trp)	RHO	Pathogenic/Likely pathogenic	3	129247892	129247892	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256669,UniProtKB:P08100#VAR_004787,OMIM:180380.0010
single nucleotide variant	NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	RHO	Pathogenic	3	129251131	129251131	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256670,UniProtKB:P08100#VAR_004813,OMIM:180380.0017
single nucleotide variant	NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	RHO	Pathogenic	3	129249761	129249761	G	T	criteria provided, multiple submitters, no conflicts	OMIM:180380.0011,ClinGen:CA256671,UniProtKB:P08100#VAR_004796
single nucleotide variant	NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	RHO	Pathogenic/Likely pathogenic	3	129251096	129251096	A	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P08100#VAR_004806,OMIM:180380.0013,ClinGen:CA256672
single nucleotide variant	NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	RHO	Pathogenic	3	129251132	129251132	A	G	criteria provided, single submitter	ClinGen:CA256673,UniProtKB:P08100#VAR_004814,OMIM:180380.0014
single nucleotide variant	NM_000539.3(RHO):c.632A>C (p.His211Pro)	RHO	Likely pathogenic	3	129251195	129251195	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256674,UniProtKB:P08100#VAR_004818,OMIM:180380.0018
single nucleotide variant	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO	Pathogenic	3	129249760	129249760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA122819,UniProtKB:P08100#VAR_004797,OMIM:180380.0012
single nucleotide variant	NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	RHO	Pathogenic	3	129252544	129252544	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256675,OMIM:180380.0015
single nucleotide variant	NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	RHO	Pathogenic	3	129251565	129251565	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256677,UniProtKB:P08100#VAR_004828,OMIM:180380.0016
single nucleotide variant	NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	RHO	Pathogenic	3	129252554	129252554	C	G	criteria provided, single submitter	ClinGen:CA256678,UniProtKB:P08100#VAR_004836,OMIM:180380.0020