UNC119[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 322451	NM_005148.4(UNC119):c.*385T>C	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GLikely benign
Select item 888950	NM_005148.4(UNC119):c.*378G>A	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GUncertain significance
Select item 322452	NM_005148.4(UNC119):c.*362C>G	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GBenign
Select item 322453	NM_005148.4(UNC119):c.*287T>G	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GUncertain significance
Select item 322454	NM_005148.4(UNC119):c.*265G>A	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GUncertain significance
Select item 322455	NM_005148.4(UNC119):c.*226C>T	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GBenign
Select item 889628	NM_005148.4(UNC119):c.*181G>A	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GUncertain significance
Select item 322456	NM_005148.4(UNC119):c.*140A>G	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GBenign
Select item 889629	NM_005148.4(UNC119):c.*115G>A	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GUncertain significance
Select item 322457	NM_005148.4(UNC119):c.*83G>C	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GBenign
Select item 322458	NM_005148.4(UNC119):c.*78C>T	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GUncertain significance
Select item 322459	NM_005148.4(UNC119):c.*72C>T	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GBenign
Select item 889630	NM_005148.4(UNC119):c.*7G>A	UNC119	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy	GLikely benign
Select item 259652	NM_005148.4(UNC119):c.*1C>T	UNC119	Single nucleotide variant (3 prime UTR variant)	Idiopathic CD4 lymphocytopenia +2 more	GBenign
Select item 3068277	NM_005148.4(UNC119):c.721T>C (p.Ter241Arg)	UNC119	Single nucleotide variant (stop lost +1 more)	Cone-rod dystrophy 24	GUncertain significance
Select item 1942987	NM_005148.4(UNC119):c.718C>T (p.Pro240Ser)	UNC119 (P145S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 749064	NM_005148.4(UNC119):c.714G>A (p.Gly238=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793578	NM_005148.4(UNC119):c.713G>A (p.Gly238Glu)	UNC119 (G143E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1043784	NM_005148.4(UNC119):c.712G>A (p.Gly238Arg)	UNC119 (G238R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1648276	NM_005148.4(UNC119):c.711C>T (p.Ser237=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1430700	NM_005148.4(UNC119):c.711C>G (p.Ser237Arg)	UNC119 (S142R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967489	NM_005148.4(UNC119):c.695C>T (p.Ala232Val)	UNC119 (A137V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1948544	NM_005148.4(UNC119):c.694G>A (p.Ala232Thr)	UNC119 (A232T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 891201	NM_005148.4(UNC119):c.689A>G (p.Asn230Ser)	UNC119 (N135S +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy	GUncertain significance
Select item 1407792	NM_005148.4(UNC119):c.680T>G (p.Val227Gly)	UNC119 (V132G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942607	NM_005148.4(UNC119):c.675G>T (p.Arg225=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 967532	NM_005148.4(UNC119):c.674G>A (p.Arg225Gln)	UNC119 (R225Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2612729	NM_005148.4(UNC119):c.673C>T (p.Arg225Trp)	UNC119 (R130W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 322460	NM_005148.4(UNC119):c.663C>T (p.Phe221=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2989510	NM_005148.4(UNC119):c.655T>G (p.Phe219Val)	UNC119 (F219V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 748842	NM_005148.4(UNC119):c.645G>A (p.Gln215=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1611078	NM_005148.4(UNC119):c.633G>A (p.Pro211=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1512356	NM_005148.4(UNC119):c.632C>T (p.Pro211Leu)	UNC119 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2077902	NM_005148.4(UNC119):c.631C>A (p.Pro211Thr)	UNC119 (P211T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 322461	NM_005148.4(UNC119):c.626G>A (p.Arg209His)	UNC119 (R209H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 971093	NM_005148.4(UNC119):c.625C>T (p.Arg209Cys)	UNC119 (R209C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2118532	NM_005148.4(UNC119):c.624C>T (p.Ile208=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950920	NM_005148.4(UNC119):c.616G>A (p.Glu206Lys)	UNC119 (E111K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1440782	NM_005148.4(UNC119):c.615C>T (p.Ser205=)	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1116080	NM_005148.4(UNC119):c.611-4G>T	UNC119	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1160663	NM_005148.4(UNC119):c.611-12C>T	UNC119	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097885	NM_005148.4(UNC119):c.611-13G>T	UNC119	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1942374	NM_005148.4(UNC119):c.611-18G>T	UNC119	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1898131	NM_005148.4(UNC119):c.611-18G>A	UNC119	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2799687	NM_005148.4(UNC119):c.610+18T>C	UNC119 (S210P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2856327	NM_005148.4(UNC119):c.610+17T>C	UNC119	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2995639	NM_005148.4(UNC119):c.610+14G>T	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2874134	NM_005148.4(UNC119):c.610+9G>T	UNC119 (A207S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1579234	NM_005148.4(UNC119):c.610+7G>A	UNC119 (R206Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1901458	NM_005148.4(UNC119):c.610+6C>T	UNC119 (R206W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1053077	NM_005148.4(UNC119):c.610+5G>A	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1677310	NM_005148.4(UNC119):c.601G>T (p.Glu201Ter)	UNC119 (E106* +1 more)	Single nucleotide variant (nonsense)	Macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1495959	NM_005148.4(UNC119):c.601G>A (p.Glu201Lys)	UNC119 (E106K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95260	NM_005148.4(UNC119):c.600C>T (p.Ser200=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3186447	NM_005148.4(UNC119):c.596T>A (p.Leu199His)	UNC119 (L199H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1951493	NM_005148.4(UNC119):c.593_594insG (p.Leu199fs)	UNC119 (L104fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2327109	NM_005148.4(UNC119):c.593C>A (p.Pro198His)	UNC119 (P103H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1505856	NM_005148.4(UNC119):c.592C>T (p.Pro198Ser)	UNC119 (P198S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391508	NM_005148.4(UNC119):c.592C>G (p.Pro198Ala)	UNC119 (P198A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091064	NM_005148.4(UNC119):c.591C>A (p.Pro197=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253953	NM_005148.4(UNC119):c.589C>G (p.Pro197Ala)	UNC119 (P197A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1951494	NM_005148.4(UNC119):c.588C>T (p.Phe196=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040179	NM_005148.4(UNC119):c.586T>A (p.Phe196Ile)	UNC119 (F196I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891202	NM_005148.4(UNC119):c.586T>C (p.Phe196Leu)	UNC119 (F101L +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2965777	NM_005148.4(UNC119):c.584A>T (p.Asp195Val)	UNC119 (D100V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1100511	NM_005148.4(UNC119):c.582C>T (p.Tyr194=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114757	NM_005148.4(UNC119):c.576C>T (p.His192=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738531	NM_005148.4(UNC119):c.573G>A (p.Glu191=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417456	NM_005148.4(UNC119):c.571G>C (p.Glu191Gln)	UNC119 (E191Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390780	NM_005148.4(UNC119):c.571G>A (p.Glu191Lys)	UNC119 (E191K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932594	NM_005148.4(UNC119):c.564C>G (p.Asn188Lys)	UNC119 (N93K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780382	NM_005148.4(UNC119):c.559A>G (p.Lys187Glu)	UNC119 (K92E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009985	NM_005148.4(UNC119):c.551C>A (p.Pro184His)	UNC119 (P184H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615104	NM_005148.4(UNC119):c.549C>T (p.Ile183=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 322462	NM_005148.4(UNC119):c.526G>A (p.Asp176Asn)	UNC119 (D176N +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +1 more	GUncertain significance
Select item 1565512	NM_005148.4(UNC119):c.525C>T (p.Phe175=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014064	NM_005148.4(UNC119):c.516C>T (p.Leu172=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 322463	NM_005148.4(UNC119):c.509A>G (p.Gln170Arg)	UNC119 (Q170R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1058837	NM_005148.4(UNC119):c.506A>G (p.Asn169Ser)	UNC119 (N169S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1139115	NM_005148.4(UNC119):c.504C>T (p.Arg168=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387366	NM_005148.4(UNC119):c.503G>T (p.Arg168Leu)	UNC119 (R73L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999864	NM_005148.4(UNC119):c.503G>A (p.Arg168His)	UNC119 (R168H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 322464	NM_005148.4(UNC119):c.502C>T (p.Arg168Cys)	UNC119 (R168C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1479318	NM_005148.4(UNC119):c.487G>T (p.Glu163Ter)	UNC119 (E68* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1946249	NM_005148.4(UNC119):c.486C>T (p.Ile162=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1039205	NM_005148.4(UNC119):c.486C>G (p.Ile162Met)	UNC119 (I162M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3186445	NM_005148.4(UNC119):c.483G>T (p.Met161Ile)	UNC119 (M161I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1349887	NM_005148.4(UNC119):c.481A>G (p.Met161Val)	UNC119 (M161V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717877	NM_005148.4(UNC119):c.479G>T (p.Arg160Leu)	UNC119 (R160L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466617	NM_005148.4(UNC119):c.479G>A (p.Arg160His)	UNC119 (R160H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956655	NM_005148.4(UNC119):c.478C>T (p.Arg160Cys)	UNC119 (R65C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388090	NM_005148.4(UNC119):c.469A>C (p.Asn157His)	UNC119 (N157H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523195	NM_005148.4(UNC119):c.459C>A (p.Asp153Glu)	UNC119 (D58E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485267	NM_005148.4(UNC119):c.452T>C (p.Val151Ala)	UNC119 (V56A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085944	NM_005148.4(UNC119):c.450A>G (p.Thr150=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906364	NM_005148.4(UNC119):c.439G>A (p.Val147Met)	UNC119 (V147M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487154	NM_005148.4(UNC119):c.439G>C (p.Val147Leu)	UNC119 (V52L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960342	NM_005148.4(UNC119):c.437+20G>T	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957699	NM_005148.4(UNC119):c.437+8G>T	UNC119	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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