"Fulgent Genetics, Fulgent 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 1212352	NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1412206	NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)	RPGR (E899del)	Microsatellite (inframe_deletion +1 more)	X-linked cone-rod dystrophy 1 +5 more	GConflicting classifications of pathogenicity
Select item 91389	NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	RPGR (E802fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3 +8 more	GPathogenic/Likely pathogenic
Select item 866844	NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)	RPGR (E754*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +5 more	GPathogenic
Select item 438142	NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	RPGR (E746fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +7 more	GPathogenic/Likely pathogenic
Select item 1276872	NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)	RPGR (M686K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 3 +5 more	GBenign/Likely benign
Select item 414013	NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)	RPGR (T570A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 454510	NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)	RPGR (E414Q +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +5 more	GBenign/Likely benign
Select item 255836	NM_001034853.2(RPGR):c.552G>T (p.Gln184His)	RPGR (Q184H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 100560	NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)	RPGR (I75V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign