RBP3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 299999	NM_002900.3(RBP3):c.-99_-97del	RBP3	Deletion (5 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 879770	NM_002900.3(RBP3):c.-83G>A	RBP3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 299998	NM_002900.3(RBP3):c.-13C>T	RBP3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign
Select item 2043856	NM_002900.3(RBP3):c.2T>C (p.Met1Thr)	RBP3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009522	NM_002900.3(RBP3):c.5T>C (p.Met2Thr)	RBP3 (M2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160588	NM_002900.3(RBP3):c.33G>A (p.Val11=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349677	NM_002900.3(RBP3):c.41G>A (p.Cys14Tyr)	RBP3 (C14Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1135430	NM_002900.3(RBP3):c.42T>C (p.Cys14=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208292	NM_002900.3(RBP3):c.53G>T (p.Gly18Val)	RBP3 (G18V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 1112278	NM_002900.3(RBP3):c.54C>A (p.Gly18=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725124	NM_002900.3(RBP3):c.57C>T (p.Pro19=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287295	NM_002900.3(RBP3):c.63C>T (p.His21=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1366166	NM_002900.3(RBP3):c.73C>A (p.Pro25Thr)	RBP3 (P25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1088619	NM_002900.3(RBP3):c.75A>C (p.Pro25=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 299997	NM_002900.3(RBP3):c.78C>T (p.Ser26=)	RBP3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 1084390	NM_002900.3(RBP3):c.79C>T (p.Leu27=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441313	NM_002900.3(RBP3):c.80T>G (p.Leu27Arg)	RBP3 (L27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965123	NM_002900.3(RBP3):c.93G>A (p.Met31Ile)	RBP3 (M31I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448809	NM_002900.3(RBP3):c.97A>G (p.Lys33Glu)	RBP3 (K33E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001707	NM_002900.3(RBP3):c.101T>G (p.Val34Gly)	RBP3 (V34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485998	NM_002900.3(RBP3):c.118T>G (p.Cys40Gly)	RBP3 (C40G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722675	NM_002900.3(RBP3):c.120C>T (p.Cys40=)	RBP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497463	NM_002900.3(RBP3):c.126G>A (p.Pro42=)	RBP3	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2475584	NM_002900.3(RBP3):c.132C>A (p.Asn44Lys)	RBP3 (N44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959301	NM_002900.3(RBP3):c.132C>G (p.Asn44Lys)	RBP3 (N44K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964958	NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)	RBP3 (Q54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1494648	NM_002900.3(RBP3):c.170A>T (p.Lys57Met)	RBP3 (K57M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844496	NM_002900.3(RBP3):c.176A>G (p.His59Arg)	RBP3 (H59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357997	NM_002900.3(RBP3):c.179A>G (p.Glu60Gly)	RBP3 (E60G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968806	NM_002900.3(RBP3):c.188G>A (p.Ser63Asn)	RBP3 (S63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001730	NM_002900.3(RBP3):c.189C>G (p.Ser63Arg)	RBP3 (S63R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024888	NM_002900.3(RBP3):c.200C>T (p.Pro67Leu)	RBP3 (P67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1614073	NM_002900.3(RBP3):c.201G>A (p.Pro67=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512531	NM_002900.3(RBP3):c.206C>T (p.Thr69Met)	RBP3 (T69M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364352	NM_002900.3(RBP3):c.215G>A (p.Ser72Asn)	RBP3 (S72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058301	NM_002900.3(RBP3):c.224C>T (p.Thr75Ile)	RBP3 (T75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192290	NM_002900.3(RBP3):c.228C>T (p.Ala76=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144199	NM_002900.3(RBP3):c.229G>C (p.Gly77Arg)	RBP3 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387603	NM_002900.3(RBP3):c.229G>A (p.Gly77Arg)	RBP3 (G77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961634	NM_002900.3(RBP3):c.232G>A (p.Val78Met)	RBP3 (V78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028180	NM_002900.3(RBP3):c.240C>A (p.Ser80Arg)	RBP3 (S80R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028179	NM_002900.3(RBP3):c.240C>T (p.Ser80=)	RBP3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1649392	NM_002900.3(RBP3):c.246G>C (p.Leu82=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108678	NM_002900.3(RBP3):c.249C>T (p.Asn83=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224750	NM_002900.3(RBP3):c.249C>A (p.Asn83Lys)	RBP3 (N83K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491082	NM_002900.3(RBP3):c.256C>T (p.Arg86Cys)	RBP3 (R86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525353	NM_002900.3(RBP3):c.257G>A (p.Arg86His)	RBP3 (R86H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 299996	NM_002900.3(RBP3):c.258C>T (p.Arg86=)	RBP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1507987	NM_002900.3(RBP3):c.265A>G (p.Ile89Val)	RBP3 (I89V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968771	NM_002900.3(RBP3):c.282C>A (p.Ser94Arg)	RBP3 (S94R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960676	NM_002900.3(RBP3):c.288del (p.Glu97fs)	RBP3 (E97fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1085789	NM_002900.3(RBP3):c.288C>T (p.Pro96=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3313374	NM_002900.3(RBP3):c.289G>C (p.Glu97Gln)	RBP3 (E97Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1039764	NM_002900.3(RBP3):c.289G>A (p.Glu97Lys)	RBP3 (E97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021573	NM_002900.3(RBP3):c.293C>T (p.Pro98Leu)	RBP3 (P98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054993	NM_002900.3(RBP3):c.296C>T (p.Pro99Leu)	RBP3 (P99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052006	NM_002900.3(RBP3):c.299C>G (p.Pro100Arg)	RBP3 (P100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009738	NM_002900.3(RBP3):c.299C>A (p.Pro100Gln)	RBP3 (P100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597526	NM_002900.3(RBP3):c.299C>T (p.Pro100Leu)	RBP3 (P100L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1506608	NM_002900.3(RBP3):c.301C>G (p.Gln101Glu)	RBP3 (Q101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879082	NM_002900.3(RBP3):c.304del (p.Val102fs)	RBP3 (V102fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3028178	NM_002900.3(RBP3):c.307C>T (p.Pro103Ser)	RBP3 (P103S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2083942	NM_002900.3(RBP3):c.315C>T (p.Leu105=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671186	NM_002900.3(RBP3):c.318C>T (p.Thr106=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716362	NM_002900.3(RBP3):c.319A>G (p.Ser107Gly)	RBP3 (S107G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061514	NM_002900.3(RBP3):c.325T>C (p.Ser109Pro)	RBP3 (S109P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006138	NM_002900.3(RBP3):c.332A>G (p.Glu111Gly)	RBP3 (E111G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854333	NM_002900.3(RBP3):c.336A>C (p.Glu112Asp)	RBP3 (E112D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498167	NM_002900.3(RBP3):c.341T>C (p.Leu114Pro)	RBP3 (L114P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496535	NM_002900.3(RBP3):c.341T>A (p.Leu114His)	RBP3 (L114H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1078688	NM_002900.3(RBP3):c.349C>T (p.Leu117=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161752	NM_002900.3(RBP3):c.351G>A (p.Leu117=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552212	NM_002900.3(RBP3):c.357G>T (p.Arg119Ser)	RBP3 (R119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3028177	NM_002900.3(RBP3):c.359G>T (p.Gly120Val)	RBP3 (G120V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 208293	NM_002900.3(RBP3):c.365G>A (p.Arg122His)	RBP3 (R122H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 1146617	NM_002900.3(RBP3):c.369T>C (p.His123=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082774	NM_002900.3(RBP3):c.372G>A (p.Glu124=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302780	NM_002900.3(RBP3):c.385A>T (p.Asn129Tyr)	RBP3 (N129Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 793578	NM_002900.3(RBP3):c.396C>T (p.Tyr132=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524744	NM_002900.3(RBP3):c.401G>A (p.Arg134Gln)	RBP3 (R134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550932	NM_002900.3(RBP3):c.408C>T (p.Asp136=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1020854	NM_002900.3(RBP3):c.412_414del (p.Val138del)	RBP3 (V138del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 761157	NM_002900.3(RBP3):c.411C>T (p.Ser137=)	RBP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 999923	NM_002900.3(RBP3):c.412G>A (p.Val138Ile)	RBP3 (V138I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813810	NM_002900.3(RBP3):c.414C>A (p.Val138=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 838170	NM_002900.3(RBP3):c.416C>T (p.Pro139Leu)	RBP3 (P139L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1090540	NM_002900.3(RBP3):c.417G>A (p.Pro139=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499949	NM_002900.3(RBP3):c.418G>A (p.Gly140Ser)	RBP3 (G140S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1915170	NM_002900.3(RBP3):c.421C>T (p.Gln141Ter)	RBP3 (Q141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1972646	NM_002900.3(RBP3):c.426G>A (p.Glu142=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3152594	NM_002900.3(RBP3):c.430C>G (p.Leu144Val)	RBP3 (L144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1918430	NM_002900.3(RBP3):c.434G>C (p.Ser145Thr)	RBP3 (S145T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009967	NM_002900.3(RBP3):c.435C>T (p.Ser145=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375827	NM_002900.3(RBP3):c.436A>G (p.Met146Val)	RBP3 (M146V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938453	NM_002900.3(RBP3):c.445G>T (p.Glu149Ter)	RBP3 (E149*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1364826	NM_002900.3(RBP3):c.462C>A (p.His154Gln)	RBP3 (H154Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1121863	NM_002900.3(RBP3):c.462C>T (p.His154=)	RBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208294	NM_002900.3(RBP3):c.463G>A (p.Val155Met)	RBP3 (V155M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 66	GUncertain significance
Select item 2086777	NM_002900.3(RBP3):c.467G>T (p.Trp156Leu)	RBP3 (W156L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 813084	NM_002900.3(RBP3):c.467G>C (p.Trp156Ser)	RBP3 (W156S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic

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