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
Deletion	NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)	RPGR	Pathogenic	X	38160501	38160505	CAATTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799694
Duplication	NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)	RPGR	Pathogenic	X	38158361	38158362	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA226342
single nucleotide variant	NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)	RPGR	Pathogenic/Likely pathogenic	X	38158334	38158334	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226344
Duplication	NM_001034853.2(RPGR):c.1187dup (p.Leu396fs)	RPGR	Pathogenic	X	38158266	38158267	T	TA	criteria provided, single submitter	ClinGen:CA645372676
single nucleotide variant	NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)	RPGR	Pathogenic	X	38158220	38158220	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.1245+3A>G	RPGR	Pathogenic/Likely pathogenic	X	38158206	38158206	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226348,OMIM:312610.0005
single nucleotide variant	NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)	RPGR	Pathogenic	X	38156585	38156585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616540
Deletion	NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)	RPGR	Pathogenic/Likely pathogenic	X	38156573	38156574	AAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226358
single nucleotide variant	NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)	RPGR	Pathogenic/Likely pathogenic	X	38156564	38156564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606591
single nucleotide variant	NM_001034853.2(RPGR):c.1573-8A>G	RPGR	Likely pathogenic	X	38147302	38147302	T	C	criteria provided, single submitter	ClinGen:CA226372