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_001034853.2(RPGR):c.934+1G>C	RPGR	Pathogenic	X	38163887	38163887	C	G	criteria provided, single submitter	ClinGen:CA226464
Deletion	NM_001034853.2(RPGR):c.101del (p.Asn34fs)	RPGR	Pathogenic	X	38182705	38182705	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226467
single nucleotide variant	NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)	RPGR	Pathogenic/Likely pathogenic	X	38160579	38160579	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226468
Deletion	NM_000329.3(RPE65):c.1067del (p.Asn356fs)	RPE65	Pathogenic	1	68903931	68903931	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226477,OMIM:180069.0001
single nucleotide variant	NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)	RPE65	Pathogenic	1	68903920	68903920	C	G	criteria provided, single submitter	ClinGen:CA226480
single nucleotide variant	NM_000329.3(RPE65):c.11+5G>A	RPE65	Pathogenic/Likely pathogenic	1	68915573	68915573	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226483,OMIM:180069.0010
single nucleotide variant	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65	Pathogenic	1	68912520	68912520	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226491,UniProtKB:Q16518#VAR_017127
single nucleotide variant	NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)	RPE65	Pathogenic/Likely pathogenic	1	68897174	68897174	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226497
single nucleotide variant	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	RPE65	Pathogenic/Likely pathogenic	1	68897054	68897054	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226499,UniProtKB:Q16518#VAR_017141
single nucleotide variant	NM_000329.3(RPE65):c.1307G>T (p.Gly436Val)	RPE65	Likely pathogenic	1	68896996	68896996	C	A	criteria provided, single submitter	ClinGen:CA226505,UniProtKB:Q16518#VAR_060821