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.706C>T (p.Gln236Ter)	RPGR	Pathogenic	X	38169940	38169940	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226437
single nucleotide variant	NM_001034853.2(RPGR):c.779-1G>A	RPGR	Pathogenic	X	38164044	38164044	C	T	criteria provided, single submitter	ClinGen:CA226446
single nucleotide variant	NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)	RPGR	Likely pathogenic	X	38164016	38164016	C	T	criteria provided, single submitter	ClinGen:CA220676
single nucleotide variant	NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)	RPGR	Pathogenic	X	38163999	38163999	C	T	criteria provided, single submitter	ClinGen:CA226447,UniProtKB:Q92834#VAR_006852,OMIM:312610.0003
Deletion	NM_001034853.2(RPGR):c.837del (p.Leu280fs)	RPGR	Pathogenic	X	38163985	38163985	GA	G	criteria provided, single submitter	ClinGen:CA226451
Deletion	NM_001034853.2(RPGR):c.869del (p.Glu290fs)	RPGR	Pathogenic	X	38163953	38163953	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226454
single nucleotide variant	NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)	RPGR	Likely pathogenic	X	38163917	38163917	C	T	criteria provided, single submitter	ClinGen:CA226459,UniProtKB:Q92834#VAR_018064
single nucleotide variant	NM_001034853.2(RPGR):c.934+1G>C	RPGR	Pathogenic	X	38163887	38163887	C	G	criteria provided, single submitter	ClinGen:CA226464
single nucleotide variant	NM_001034853.2(RPGR):c.934+1G>A	RPGR	Pathogenic	X	38163887	38163887	C	T	criteria provided, single submitter	ClinGen:CA226463
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