ClinVar for Gene (Select 6100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369252	NM_203288.2(RP9):c.475C>T (p.Gln159Ter)	RP9 (Q159*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3340512	NM_203288.2(RP9):c.484_485del (p.Gln162fs)	RP9 (Q162fs)	Deletion (frameshift variant)	Retinitis pigmentosa 9	GLikely pathogenic
Select item 3245943	NC_000007.13:g.(?_33136085)_(33140193_?)del	RP9	Deletion	not provided	GUncertain significance
Select item 3245920	NC_000007.13:g.(?_33054342)_(33192483_?)dup	BBS9, NT5C3A +1 more	Duplication	not provided	GUncertain significance
Select item 3155889	NM_203288.2(RP9):c.649G>C (p.Gly217Arg)	RP9 (G217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155888	NM_203288.2(RP9):c.470T>C (p.Ile157Thr)	RP9 (I157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066364	NM_203288.2(RP9):c.5C>A (p.Ser2Ter)	LOC129998225, RP9 (S2*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 9	GLikely pathogenic
Select item 3053354	NM_203288.2(RP9):c.612G>A (p.Lys204=)	RP9	Single nucleotide variant (synonymous variant)	RP9-related disorder	GLikely benign
Select item 3051228	NM_203288.2(RP9):c.249T>C (p.Phe83=)	RP9	Single nucleotide variant (synonymous variant)	RP9-related disorder	GLikely benign
Select item 3027880	NM_203288.2(RP9):c.17G>T (p.Gly6Val)	LOC129998225, RP9 (G6V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3027879	NM_203288.2(RP9):c.56G>C (p.Arg19Pro)	LOC129998225, RP9 (R19P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027878	NM_203288.2(RP9):c.129G>T (p.Gln43His)	LOC129998224, RP9 (Q43H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027877	NM_203288.2(RP9):c.182A>G (p.Lys61Arg)	RP9 (K61R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027875	NM_203288.2(RP9):c.258T>C (p.His86=)	RP9	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027874	NM_203288.2(RP9):c.396G>C (p.Gln132His)	RP9 (Q132H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027873	NM_203288.2(RP9):c.603_607del (p.Lys202fs)	RP9 (K202fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 3027872	NM_203288.2(RP9):c.620G>A (p.Arg207Gln)	RP9 (R207Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3027871	NM_203288.2(RP9):c.635C>T (p.Ser212Phe)	RP9 (S212F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3010670	NM_203288.2(RP9):c.150C>T (p.Ser50=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991429	NM_203288.2(RP9):c.467+20A>G	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976890	NM_203288.2(RP9):c.152+13C>T	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974691	NM_203288.2(RP9):c.406-17C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972986	NM_203288.2(RP9):c.99G>C (p.Lys33Asn)	LOC129998224, RP9 (K33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967264	NM_203288.2(RP9):c.313+17T>C	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956821	NM_203288.2(RP9):c.38C>T (p.Ala13Val)	LOC129998225, RP9 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920380	NM_203288.2(RP9):c.17G>A (p.Gly6Glu)	LOC129998225, RP9 (G6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902088	NM_203288.2(RP9):c.288G>A (p.Leu96=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900897	NM_203288.2(RP9):c.436C>T (p.Arg146Ter)	RP9 (R146*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2875864	NM_203288.2(RP9):c.153delT (p.Tyr52fs)	RP9 (Y52fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2865452	NM_203288.2(RP9):c.184-3T>C	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2858341	NM_203288.2(RP9):c.400A>G (p.Arg134Gly)	RP9 (R134G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792214	NM_203288.2(RP9):c.27C>G (p.Asp9Glu)	LOC129998225, RP9 (D9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790687	NM_203288.2(RP9):c.183+19C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731697	NM_203288.2(RP9):c.117del (p.Gln40fs)	LOC129998224, RP9 (Q40fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2723201	NM_203288.2(RP9):c.314-9_314-4del	RP9	Deletion (intron variant)	not provided	GLikely benign
Select item 2657382	NM_203288.2(RP9):c.486G>A (p.Gln162=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617573	NM_203288.2(RP9):c.129G>C (p.Gln43His)	LOC129998224, RP9 (Q43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572686	NM_203288.2(RP9):c.46C>T (p.Arg16Trp)	LOC129998225, RP9 (R16W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549004	NM_203288.2(RP9):c.187G>C (p.Asp63His)	RP9 (D63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540265	NM_203288.2(RP9):c.122A>C (p.Gln41Pro)	LOC129998224, RP9 (Q41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539607	NM_203288.2(RP9):c.473A>G (p.Gln158Arg)	RP9 (Q158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532990	NM_203288.2(RP9):c.89G>T (p.Arg30Leu)	LOC129998224, RP9 (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529709	NM_203288.2(RP9):c.529A>G (p.Ser177Gly)	RP9 (S177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427651	NC_000007.13:g.(?_33054342)_(33185996_?)del	BBS9, NT5C3A +1 more	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 2419341	NM_203288.2(RP9):c.406-4T>C	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419187	NM_203288.2(RP9):c.432C>T (p.Ile144=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416739	NM_203288.2(RP9):c.188A>T (p.Asp63Val)	RP9 (D63V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2322285	NM_203288.2(RP9):c.617A>C (p.Lys206Thr)	RP9 (K206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319091	NM_203288.2(RP9):c.283C>G (p.Pro95Ala)	RP9 (P95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314018	NM_203288.2(RP9):c.173G>A (p.Gly58Glu)	RP9 (G58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302638	NM_203288.2(RP9):c.265A>G (p.Thr89Ala)	RP9 (T89A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2284886	NM_203288.2(RP9):c.86G>C (p.Arg29Pro)	LOC129998224, RP9 (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251213	NM_203288.2(RP9):c.536C>T (p.Ser179Phe)	RP9 (S179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2175511	NM_203288.2(RP9):c.237C>T (p.His79=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128960	NM_203288.2(RP9):c.47GGC[3] (p.Arg17_Pro18insArg)	LOC129998225, RP9	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2122705	NM_203288.2(RP9):c.1A>G (p.Met1Val)	LOC129998225, RP9 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120648	NM_203288.2(RP9):c.287T>C (p.Leu96Pro)	RP9 (L96P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115003	NM_203288.2(RP9):c.130C>T (p.Gln44Ter)	LOC129998224, RP9 (Q44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2114127	NM_203288.2(RP9):c.301A>G (p.Lys101Glu)	RP9 (K101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105032	NM_203288.2(RP9):c.274C>G (p.Leu92Val)	RP9 (L92V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101926	NM_203288.2(RP9):c.138G>A (p.Lys46=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099791	NM_203288.2(RP9):c.152+1G>T	LOC129998224, RP9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2089036	NM_203288.2(RP9):c.380A>G (p.Asn127Ser)	RP9 (N127S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080267	NM_203288.2(RP9):c.315T>C (p.Cys105=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059478	NM_203288.2(RP9):c.235C>T (p.His79Tyr)	RP9 (H79Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055443	NM_203288.2(RP9):c.90G>A (p.Arg30=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054657	NM_203288.2(RP9):c.159A>G (p.Glu53=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050907	NM_203288.2(RP9):c.467+8C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036817	NM_203288.2(RP9):c.405+13dup	RP9	Duplication (intron variant)	not provided	GLikely benign
Select item 2033356	NM_203288.2(RP9):c.164C>T (p.Pro55Leu)	RP9 (P55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024979	NM_203288.2(RP9):c.198G>A (p.Lys66=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023236	NM_203288.2(RP9):c.335del (p.Gly112fs)	RP9 (G112fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2017590	NM_203288.2(RP9):c.244del (p.Glu82fs)	RP9 (E82fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2002491	NM_203288.2(RP9):c.467+9_467+11del	RP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1994453	NM_203288.2(RP9):c.313+14_313+15del	RP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1993147	NM_203288.2(RP9):c.153-3C>T	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1986208	NM_203288.2(RP9):c.106C>T (p.Arg36Ter)	LOC129998224, RP9 (R36*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1977882	NM_203288.2(RP9):c.467+17_467+19del	RP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1976518	NM_203288.2(RP9):c.448C>T (p.Arg150Ter)	RP9 (R150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1971747	NM_203288.2(RP9):c.313+6T>C	RP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961864	NM_203288.2(RP9):c.128A>G (p.Gln43Arg)	LOC129998224, RP9 (Q43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960317	NM_203288.2(RP9):c.312G>T (p.Gln104His)	RP9 (Q104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958361	NM_203288.2(RP9):c.107G>A (p.Arg36Gln)	LOC129998224, RP9 (R36Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957787	NM_203288.2(RP9):c.467+8C>A	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950334	NM_203288.2(RP9):c.340C>T (p.Arg114Ter)	RP9 (R114*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1948691	NM_203288.2(RP9):c.25_26delinsTT (p.Asp9Phe)	LOC129998225, RP9 (D9F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1946585	NM_203288.2(RP9):c.157G>A (p.Glu53Lys)	RP9 (E53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945022	NM_203288.2(RP9):c.456A>G (p.Glu152=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942315	NM_203288.2(RP9):c.184-11C>A	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940715	NM_203288.2(RP9):c.467+14G>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937721	NM_203288.2(RP9):c.386A>C (p.Lys129Thr)	RP9 (K129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934753	NM_203288.2(RP9):c.153-14T>C	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933583	NM_203288.2(RP9):c.93G>C (p.Glu31Asp)	LOC129998224, RP9 (E31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933493	NM_203288.2(RP9):c.231T>C (p.Asn77=)	RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928325	NM_203288.2(RP9):c.437G>A (p.Arg146Gln)	RP9 (R146Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918615	NM_203288.2(RP9):c.44C>T (p.Ala15Val)	LOC129998225, RP9 (A15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910118	NM_203288.2(RP9):c.184-11C>T	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907429	NM_203288.2(RP9):c.403G>A (p.Val135Met)	RP9 (V135M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901575	NM_203288.2(RP9):c.5C>G (p.Ser2Trp)	LOC129998225, RP9 (S2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899551	NM_203288.2(RP9):c.467+9G>A	RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign

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