C1854260[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1353125	NM_020366.4(RPGRIP1):c.8A>G (p.His3Arg)	RPGRIP1 (H3R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1006144	NM_020366.4(RPGRIP1):c.10C>A (p.Leu4Met)	RPGRIP1 (L4M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1069749	NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs)	RPGRIP1 (D11fs)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic/Likely pathogenic
Select item 2022177	NM_020366.4(RPGRIP1):c.12G>A (p.Leu4=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2941042	NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)	RPGRIP1 (S9fs)	Duplication (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 1414241	NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu)	RPGRIP1 (G10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1085180	NM_020366.4(RPGRIP1):c.39A>G (p.Pro13=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 312779	NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)	RPGRIP1 (I17T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1976789	NM_020366.4(RPGRIP1):c.54T>C (p.Asp18=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1025344	NM_020366.4(RPGRIP1):c.61C>T (p.Pro21Ser)	RPGRIP1 (P21S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 498002	NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)	RPGRIP1 (P25L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GConflicting classifications of pathogenicity
Select item 2192093	NM_020366.4(RPGRIP1):c.75A>G (p.Pro25=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 881317	NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val)	RPGRIP1 (A26V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1042449	NM_020366.4(RPGRIP1):c.80C>T (p.Ser27Leu)	RPGRIP1 (S27L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1005094	NM_020366.4(RPGRIP1):c.85G>A (p.Gly29Ser)	RPGRIP1 (G29S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2081739	NM_020366.4(RPGRIP1):c.85+11C>T	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2127745	NM_020366.4(RPGRIP1):c.85+12G>T	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1152241	NM_020366.4(RPGRIP1):c.85+12G>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1513197	NM_020366.4(RPGRIP1):c.85+20A>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1166242	NM_020366.4(RPGRIP1):c.86-20A>T	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GBenign
Select item 1471351	NM_020366.4(RPGRIP1):c.86-1G>A	RPGRIP1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 195356	NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)	RPGRIP1 (M32K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GConflicting classifications of pathogenicity
Select item 1910268	NM_020366.4(RPGRIP1):c.99A>G (p.Lys33=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1370442	NM_020366.4(RPGRIP1):c.107C>A (p.Pro36Gln)	RPGRIP1 (P36Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2165199	NM_020366.4(RPGRIP1):c.111C>A (p.Pro37=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 881764	NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn)	RPGRIP1 (S39N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GUncertain significance
Select item 1061130	NM_020366.4(RPGRIP1):c.127C>G (p.Arg43Gly)	RPGRIP1 (R43G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 881765	NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp)	RPGRIP1 (R43W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GUncertain significance
Select item 853730	NM_020366.4(RPGRIP1):c.128G>A (p.Arg43Gln)	RPGRIP1 (R43Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2929275	NM_020366.4(RPGRIP1):c.136T>C (p.Leu46=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2086031	NM_020366.4(RPGRIP1):c.137T>C (p.Leu46Ser)	RPGRIP1 (L46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1922064	NM_020366.4(RPGRIP1):c.138GGA[1] (p.Glu47del)	RPGRIP1 (E47del)	Microsatellite (inframe_deletion)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1472511	NM_020366.4(RPGRIP1):c.140A>G (p.Glu47Gly)	RPGRIP1 (E47G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2152439	NM_020366.4(RPGRIP1):c.141G>A (p.Glu47=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1133472	NM_020366.4(RPGRIP1):c.153T>C (p.Phe51=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 195355	NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)	RPGRIP1 (R52*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +2 more	GPathogenic/Likely pathogenic
Select item 1389675	NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln)	RPGRIP1 (R52Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +3 more	GUncertain significance
Select item 167604	NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His)	RPGRIP1 (R54H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1673689	NM_020366.4(RPGRIP1):c.162C>T (p.Arg54=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 847799	NM_020366.4(RPGRIP1):c.163G>A (p.Glu55Lys)	RPGRIP1 (E55K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2941811	NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)	RPGRIP1 (M58fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 1904111	NM_020366.4(RPGRIP1):c.172A>G (p.Met58Val)	RPGRIP1 (M58V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 840315	NM_020366.4(RPGRIP1):c.173T>C (p.Met58Thr)	RPGRIP1 (M58T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2161619	NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)	RPGRIP1 (K61E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1424140	NM_020366.4(RPGRIP1):c.182A>G (p.Lys61Arg)	RPGRIP1 (K61R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1052595	NM_020366.4(RPGRIP1):c.184G>A (p.Glu62Lys)	RPGRIP1 (E62K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1088419	NM_020366.4(RPGRIP1):c.189T>C (p.Leu63=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1014811	NM_020366.4(RPGRIP1):c.203A>G (p.Gln68Arg)	RPGRIP1 (Q68R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1509729	NM_020366.4(RPGRIP1):c.218+1G>T	RPGRIP1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 1141293	NM_020366.4(RPGRIP1):c.218+7dup	RPGRIP1	Duplication (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 963379	NM_020366.4(RPGRIP1):c.218+6T>C	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2933537	NM_020366.4(RPGRIP1):c.218+9A>G	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 312780	NM_020366.4(RPGRIP1):c.218+13C>G	RPGRIP1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1545099	NM_020366.4(RPGRIP1):c.219-17G>T	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1556345	NM_020366.4(RPGRIP1):c.219-16C>T	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1110604	NM_020366.4(RPGRIP1):c.219-4A>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 962259	NM_020366.4(RPGRIP1):c.219-2A>G	RPGRIP1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 2065139	NM_020366.4(RPGRIP1):c.238C>G (p.Arg80Gly)	RPGRIP1 (R80G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1595265	NM_020366.4(RPGRIP1):c.240G>A (p.Arg80=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1896108	NM_020366.4(RPGRIP1):c.245C>T (p.Thr82Ile)	RPGRIP1 (T82I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 99816	NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)	RPGRIP1 (R86W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +3 more	GBenign/Likely benign
Select item 2421965	NM_020366.4(RPGRIP1):c.265C>A (p.Arg89=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2085236	NM_020366.4(RPGRIP1):c.266G>A (p.Arg89Gln)	RPGRIP1 (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1445271	NM_020366.4(RPGRIP1):c.267G>A (p.Arg89=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 374686	NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)	RPGRIP1 (V90I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +4 more	GConflicting classifications of pathogenicity
Select item 2115634	NM_020366.4(RPGRIP1):c.270C>G (p.Val90=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2127379	NM_020366.4(RPGRIP1):c.277G>C (p.Glu93Gln)	RPGRIP1 (E93Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1459285	NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs)	RPGRIP1 (A95fs)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 99819	NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln)	RPGRIP1 (P96Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +3 more	GBenign
Select item 1485828	NM_020366.4(RPGRIP1):c.293C>T (p.Ser98Leu)	RPGRIP1 (S98L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1506338	NM_020366.4(RPGRIP1):c.295G>C (p.Glu99Gln)	RPGRIP1 (E99Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 312781	NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg)	RPGRIP1 (G104R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1074924	NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter)	RPGRIP1 (Q105*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 1018729	NM_020366.4(RPGRIP1):c.320_322del (p.Ala107del)	RPGRIP1 (A107del)	Deletion (inframe_deletion)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1948692	NM_020366.4(RPGRIP1):c.320C>A (p.Ala107Glu)	RPGRIP1 (A107E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2160366	NM_020366.4(RPGRIP1):c.322G>A (p.Gly108Arg)	RPGRIP1 (G108R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 965245	NM_020366.4(RPGRIP1):c.328C>T (p.Arg110Trp)	RPGRIP1 (R110W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1000843	NM_020366.4(RPGRIP1):c.335G>A (p.Arg112His)	RPGRIP1 (R112H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1136011	NM_020366.4(RPGRIP1):c.339C>A (p.Leu113=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1513639	NM_020366.4(RPGRIP1):c.340T>C (p.Ser114Pro)	RPGRIP1 (S114P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1055355	NM_020366.4(RPGRIP1):c.344T>G (p.Met115Arg)	RPGRIP1 (M115R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2108614	NM_020366.4(RPGRIP1):c.352C>A (p.Arg118Ser)	RPGRIP1 (R118S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1061631	NM_020366.4(RPGRIP1):c.353G>A (p.Arg118His)	RPGRIP1 (R118H)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1480293	NM_020366.4(RPGRIP1):c.356C>T (p.Pro119Leu)	RPGRIP1 (P119L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1136322	NM_020366.4(RPGRIP1):c.375A>G (p.Gln125=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 95951	NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg)	RPGRIP1 (G126R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1056358	NM_020366.4(RPGRIP1):c.380A>G (p.His127Arg)	RPGRIP1 (H127R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1904962	NM_020366.4(RPGRIP1):c.386A>G (p.His129Arg)	RPGRIP1 (H129R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 861300	NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu)	RPGRIP1 (H129L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1494845	NM_020366.4(RPGRIP1):c.394G>T (p.Gly132Cys)	RPGRIP1 (G132C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2414455	NM_020366.4(RPGRIP1):c.403A>G (p.Ser135Gly)	RPGRIP1 (S135G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2143308	NM_020366.4(RPGRIP1):c.405C>T (p.Ser135=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2108994	NM_020366.4(RPGRIP1):c.415G>A (p.Ala139Thr)	RPGRIP1 (A139T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1953567	NM_020366.4(RPGRIP1):c.415G>C (p.Ala139Pro)	RPGRIP1 (A139P)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1411639	NM_020366.4(RPGRIP1):c.416C>T (p.Ala139Val)	RPGRIP1 (A139V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1091091	NM_020366.4(RPGRIP1):c.417C>G (p.Ala139=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1569168	NM_020366.4(RPGRIP1):c.420G>A (p.Gln140=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1012007	NM_020366.4(RPGRIP1):c.427G>A (p.Val143Ile)	RPGRIP1 (V143I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1024291	NM_020366.4(RPGRIP1):c.432A>G (p.Gln144=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1425694	NM_020366.4(RPGRIP1):c.433G>C (p.Val145Leu)	RPGRIP1 (V145L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance

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