C1845667[trait identifier] AND "DBGen Ocular Genomics"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686130	NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)	RPGR (E1062*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic/Likely pathogenic
Select item 812409	NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)	RPGR (E989fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1575633	NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])	RPGR	Duplication (inframe_insertion +1 more)	Retinitis pigmentosa 3 +2 more	GConflicting classifications of pathogenicity
Select item 1172697	NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter)	RPGR (E863*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1048168	NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)	RPGR (E863fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 866274	NM_001034853.2(RPGR):c.2543del (p.Glu848fs)	RPGR (E848fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +3 more	GPathogenic
Select item 1172696	NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer)	RPGR	Duplication (nonsense +2 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1213921	NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer)	RPGR	Duplication (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213922	NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)	RPGR (S452* +3 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1172695	NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)	RPGR (G432V +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3 +2 more	GUncertain significance
Select item 406540	NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)	RPGR (Q456* +3 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1213924	NM_001034853.2(RPGR):c.934+2T>C	RPGR	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 3	GPathogenic
Select item 1213923	NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys)	RPGR (T306K +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 1213925	NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)	RPGR (Y298* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213920	NM_001034853.2(RPGR):c.779-2A>G	RPGR	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 3	GPathogenic
Select item 1172694	NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs)	RPGR (A248fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1213926	NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)	RPGR (L221* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 2628061	NM_001034853.2(RPGR):c.40G>A (p.Val14Met)	RPGR (V14M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3	GUncertain significance
Select item 803988	NM_006915.3(RP2):c.884-14G>A	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 2 +3 more	GConflicting classifications of pathogenicity