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_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2	Pathogenic	X	46713166	46713166	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255305,OMIM:300757.0008
Deletion	NM_003611.3(OFD1):c.312+1del	OFD1	Pathogenic	X	13754798	13754798	AG	A	criteria provided, single submitter	ClinGen:CA341100,OMIM:300170.0002
Deletion	NM_003611.3(OFD1):c.2767del (p.Glu923fs)	OFD1	Pathogenic	X	13786182	13786182	TG	T	criteria provided, single submitter	ClinGen:CA255926,OMIM:300170.0009
Deletion	NM_000541.5(SAG):c.926del (p.Asn309fs)	SAG	Pathogenic	2	234243725	234243725	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA122802,OMIM:181031.0001
single nucleotide variant	NM_000539.3(RHO):c.68C>A (p.Pro23His)	RHO	Pathogenic	3	129247644	129247644	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256661,UniProtKB:P08100#VAR_004768,OMIM:180380.0001
single nucleotide variant	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO	Pathogenic/Likely pathogenic	3	129252554	129252554	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256662,UniProtKB:P08100#VAR_004834,OMIM:180380.0002
single nucleotide variant	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	RHO	Pathogenic/Likely pathogenic	3	129247749	129247749	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256664,UniProtKB:P08100#VAR_004779,OMIM:180380.0004
single nucleotide variant	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	RHO	Pathogenic	3	129247626	129247626	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256665,UniProtKB:P08100#VAR_004767,OMIM:180380.0006
single nucleotide variant	NM_000539.3(RHO):c.260T>A (p.Val87Asp)	RHO	Likely pathogenic	3	129247836	129247836	T	A	criteria provided, single submitter	ClinGen:CA256667,UniProtKB:P08100#VAR_004781,OMIM:180380.0008
single nucleotide variant	NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	RHO	Pathogenic	3	129247842	129247842	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256668,UniProtKB:P08100#VAR_004782,OMIM:180380.0009