"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227048	NM_000328.3(RPGR):c.2241+11T>C	RPGR	Single nucleotide variant (intron variant)	Macular degeneration, X-linked atrophic +5 more	GBenign
Select item 2506181	NM_001034853.2(RPGR):c.2180T>A (p.Met727Lys)	RPGR (M727K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 975136	NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)	RPGR (S643fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92855	NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)	RPGR (G566E +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 92854	NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)	RPGR (T533M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 92853	NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)	RPGR (Q527del +2 more)	Microsatellite (non-coding transcript variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 92852	NM_001034853.2(RPGR):c.1572+11A>G	RPGR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 838732	NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)	RPGR (P367L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 98734	NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)	RPGR (R425K +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 98731	NM_001034853.2(RPGR):c.1245+16A>G	RPGR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 92849	NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)	RPGR	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 255837	NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)	RPGR (C302S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2577271	NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)	RPGR (R292M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 98806	NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)	RPGR (I289V +2 more)	Single nucleotide variant (missense variant +1 more)	RPGR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 504833	NM_001034853.2(RPGR):c.778+13T>A	RPGR	Single nucleotide variant (intron variant)	not provided +2 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 specified +6 more	GBenign/Likely benign
Select item 92856	NM_001034853.2(RPGR):c.29-15G>A	RPGR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign