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.1573-2A>G	RPGR	Pathogenic	X	38147296	38147296	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226371
single nucleotide variant	NM_001034853.2(RPGR):c.1573-1G>A	RPGR	Pathogenic	X	38147295	38147295	C	T	criteria provided, single submitter	ClinGen:CA226370
Deletion	NM_001034853.2(RPGR):c.2346del (p.Lys783fs)	RPGR	Pathogenic/Likely pathogenic	X	38145906	38145906	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621887
Deletion	NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	RPGR	Pathogenic/Likely pathogenic	X	38145868	38145868	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145836	38145836	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730692
Deletion	NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	RPGR	Pathogenic	X	38145807	38145810	CCTCT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)	RPGR	Pathogenic	X	38145746	38145747	TCC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145647	38145647	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730244
single nucleotide variant	NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter)	RPGR	Likely pathogenic	X	38145611	38145611	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145605	38145605	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730130