ClinVar for Gene (Select 9094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256336	NM_005148.4(UNC119):c.395A>C (p.Gln132Pro)	UNC119 (Q132P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3040919	NM_005148.4(UNC119):c.258C>T (p.Ile86=)	UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	UNC119-related disorder	GLikely benign
Select item 3003506	NM_005148.4(UNC119):c.53C>T (p.Pro18Leu)	LOC130060555, UNC119 (P18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2998558	NM_005148.4(UNC119):c.334+4A>G	UNC119	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997648	NM_005148.4(UNC119):c.147_152dup (p.Pro51_Gly52insArgPro)	LOC130060555, UNC119	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 2968860	NM_005148.4(UNC119):c.195G>C (p.Val65=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 2962140	NM_005148.4(UNC119):c.338G>A (p.Arg113Gln)	UNC119 (R113Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958562	NM_005148.4(UNC119):c.49G>A (p.Ala17Thr)	LOC130060555, UNC119 (A17T)	Single nucleotide variant (5 prime UTR 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 2860496	NM_005148.4(UNC119):c.423_433dup (p.Ala145fs)	UNC119 (A50fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2856327	NM_005148.4(UNC119):c.610+17T>C	UNC119	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849742	NM_005148.4(UNC119):c.384T>A (p.Phe128Leu)	UNC119 (F33L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810798	NM_005148.4(UNC119):c.186G>C (p.Pro62=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2793813	NM_005148.4(UNC119):c.372T>C (p.Asn124=)	UNC119	Single nucleotide variant (synonymous variant)	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 2781197	NM_005148.4(UNC119):c.220+12C>T	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2777068	NM_005148.4(UNC119):c.6G>A (p.Lys2=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2765311	NM_005148.4(UNC119):c.335-12G>A	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703371	NM_005148.4(UNC119):c.335-11G>C	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	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 2320984	NM_005148.4(UNC119):c.208C>T (p.Arg70Trp)	UNC119 (R70W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 2134275	NM_005148.4(UNC119):c.334+1dup	UNC119	Duplication (splice donor variant)	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 2114757	NM_005148.4(UNC119):c.576C>T (p.His192=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112415	NM_005148.4(UNC119):c.232T>C (p.Ser78Pro)	UNC119 (S78P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2111222	NM_005148.4(UNC119):c.106G>A (p.Glu36Lys)	LOC130060555, UNC119 (E36K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2091064	NM_005148.4(UNC119):c.591C>A (p.Pro197=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089571	NM_005148.4(UNC119):c.254A>C (p.Lys85Thr)	UNC119 (K85T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 2035812	NM_005148.4(UNC119):c.105C>G (p.Ser35=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2033512	NM_005148.4(UNC119):c.414C>T (p.Leu138=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023554	NM_005148.4(UNC119):c.334+17G>T	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017950	NM_005148.4(UNC119):c.89_92dup (p.Pro32fs)	LOC130060555, UNC119 (P32fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2015543	NM_005148.4(UNC119):c.418C>T (p.Leu140=)	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 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 2001405	NM_005148.4(UNC119):c.325C>T (p.Pro109Ser)	UNC119 (P109S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994906	NM_005148.4(UNC119):c.363G>A (p.Leu121=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964888	NM_005148.4(UNC119):c.104C>A (p.Ser35Tyr)	LOC130060555, UNC119 (S35Y)	Single nucleotide variant (5 prime UTR variant +1 more)	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	GLikely benign
Select item 1951494	NM_005148.4(UNC119):c.588C>T (p.Phe196=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1946249	NM_005148.4(UNC119):c.486C>T (p.Ile162=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1942607	NM_005148.4(UNC119):c.675G>T (p.Arg225=)	UNC119	Single nucleotide variant (synonymous 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 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 1926397	NM_005148.4(UNC119):c.220+17G>A	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911117	NM_005148.4(UNC119):c.335-7A>G	UNC119	Single nucleotide variant (intron 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 1901458	NM_005148.4(UNC119):c.610+6C>T	UNC119 (R206W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1898816	NM_005148.4(UNC119):c.79C>T (p.Pro27Ser)	LOC130060555, UNC119 (P27S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 1715379	NM_005148.4(UNC119):c.293C>T (p.Ser98Leu)	UNC119 (S3L +1 more)	Single nucleotide variant (missense variant)	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 1671111	NM_005148.4(UNC119):c.195G>A (p.Val65=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1659936	NM_005148.4(UNC119):c.159G>A (p.Pro53=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1640699	NM_005148.4(UNC119):c.234C>G (p.Ser78=)	UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1620793	NM_005148.4(UNC119):c.57G>A (p.Gly19=)	LOC130060555, UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1615104	NM_005148.4(UNC119):c.549C>T (p.Ile183=)	UNC119	Single nucleotide variant (synonymous variant)	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 1592974	NM_005148.4(UNC119):c.306C>T (p.Leu102=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1568618	NM_005148.4(UNC119):c.221-5C>T	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565512	NM_005148.4(UNC119):c.525C>T (p.Phe175=)	UNC119	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560802	NM_005148.4(UNC119):c.220+7A>G	UNC119	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540270	NM_005148.4(UNC119):c.231C>T (p.Cys77=)	UNC119	Single nucleotide variant (5 prime UTR variant +1 more)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1523250	NM_005148.4(UNC119):c.1A>G (p.Met1Val)	LOC130060555, UNC119 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	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 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 1511507	NM_005148.4(UNC119):c.370A>G (p.Asn124Asp)	UNC119 (N29D +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 1493362	NM_005148.4(UNC119):c.281G>C (p.Arg94Pro)	UNC119 (R94P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1492796	NM_005148.4(UNC119):c.126G>C (p.Glu42Asp)	LOC130060555, UNC119 (E42D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1487481	NM_005148.4(UNC119):c.22G>A (p.Gly8Ser)	LOC130060555, UNC119 (G8S)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 1479318	NM_005148.4(UNC119):c.487G>T (p.Glu163Ter)	UNC119 (E68* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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