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.255del (p.Lys85fs)	RPGR	Pathogenic/Likely pathogenic	X	38180335	38180335	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.372del (p.Glu125fs)	RPGR	Pathogenic	X	38178179	38178179	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226415
Deletion	NM_001034853.2(RPGR):c.486del (p.Phe162fs)	RPGR	Pathogenic	X	38176702	38176702	TA	T	criteria provided, single submitter	ClinGen:CA226424
Deletion	NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)	RPGR	Pathogenic	X	38176702	38176703	TAA	T	criteria provided, single submitter	ClinGen:CA226423
single nucleotide variant	NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)	RPGR	Pathogenic	X	38176696	38176696	C	T	criteria provided, single submitter	ClinGen:CA226425
single nucleotide variant	NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)	RPGR	Pathogenic/Likely pathogenic	X	38176683	38176683	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220674
single nucleotide variant	NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)	RPGR	Pathogenic	X	38176671	38176671	C	G	criteria provided, single submitter	ClinGen:CA120805,UniProtKB:Q92834#VAR_018060,OMIM:312610.0020
single nucleotide variant	NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)	RPGR	Pathogenic	X	38176607	38176607	C	T	criteria provided, single submitter	ClinGen:CA226427
single nucleotide variant	NM_001034853.2(RPGR):c.644G>T (p.Gly215Val)	RPGR	Likely pathogenic	X	38170002	38170002	C	A	criteria provided, single submitter	ClinGen:CA226433,UniProtKB:Q92834#VAR_008505
Indel	NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)	RPGR	Pathogenic/Likely pathogenic	X	38169990	38170004	TTCTCAGGTTCTCCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275388