"Baylor Genetics"[submitter] AND "RPGR"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678450	NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)	RPGR (T1072fs)	Duplication (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GLikely pathogenic
Select item 9910	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR (E1033fs)	Deletion (frameshift variant +1 more)	RPGR-related disorder +5 more	GPathogenic
Select item 2678451	NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)	RPGR (G1011fs)	Deletion (intron variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 2678452	NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)	RPGR (E875fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 620582	NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	RPGR (G817fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +4 more	GPathogenic/Likely pathogenic
Select item 98739	NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)	RPGR (L398fs +3 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1707409	NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)	RPGR (L373fs +3 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +3 more	GLikely pathogenic
Select item 1032986	NM_001034853.2(RPGR):c.1059+9A>G	RPGR	Single nucleotide variant (intron variant)	X-linked cone-rod dystrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 2678449	NM_001034853.2(RPGR):c.311-1G>A	RPGR	Single nucleotide variant (intron variant +1 more)	X-linked cone-rod dystrophy 1 +1 more	GLikely pathogenic
Select item 625790	GRCh37/hg19 Xp11.4(chrX:38144822-38164037)	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic