403[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 2788955	NM_004311.4(ARL3):c.535G>C (p.Ala179Pro)	ARL3 (A179P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356653	NM_004311.4(ARL3):c.535G>A (p.Ala179Thr)	ARL3 (A179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129550	NM_004311.4(ARL3):c.522C>T (p.Cys174=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1051552	NM_004311.4(ARL3):c.518T>C (p.Val173Ala)	ARL3 (V173A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402169	NM_004311.4(ARL3):c.512A>T (p.Asn171Ile)	ARL3 (N171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133610	NM_004311.4(ARL3):c.510G>A (p.Met170Ile)	ARL3 (M170I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001424	NM_004311.4(ARL3):c.509T>C (p.Met170Thr)	ARL3 (M170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 957631	NM_004311.4(ARL3):c.508A>G (p.Met170Val)	ARL3 (M170V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1587169	NM_004311.4(ARL3):c.502-7C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549585	NM_004311.4(ARL3):c.502-13A>C	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965085	NM_004311.4(ARL3):c.502-17G>A	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118797	NM_004311.4(ARL3):c.501+11A>G	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1368845	NM_004311.4(ARL3):c.501+6A>G	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2813213	NM_004311.4(ARL3):c.501+1G>T	ARL3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2035439	NM_004311.4(ARL3):c.501+1G>A	ARL3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1056502	NM_004311.4(ARL3):c.496G>A (p.Val166Ile)	ARL3 (V166I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149343	NM_004311.4(ARL3):c.495C>T (p.Gly165=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1041169	NM_004311.4(ARL3):c.493G>A (p.Gly165Ser)	ARL3 (G165S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2009801	NM_004311.4(ARL3):c.482T>G (p.Leu161Arg)	ARL3 (L161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009318	NM_004311.4(ARL3):c.472T>G (p.Cys158Gly)	ARL3 (C158G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1018300	NM_004311.4(ARL3):c.469T>G (p.Ser157Ala)	ARL3 (S157A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899445	NM_004311.4(ARL3):c.452G>A (p.Arg151Gln)	ARL3 (R151Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042524	NM_004311.4(ARL3):c.451C>T (p.Arg151Ter)	ARL3 (R151*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2967655	NM_004311.4(ARL3):c.448G>A (p.Asp150Asn)	ARL3 (D150N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105549	NM_004311.4(ARL3):c.447C>T (p.Arg149=)	ARL3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 424963	NM_004311.4(ARL3):c.446G>A (p.Arg149His)	ARL3 (R149H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 587372	NM_004311.4(ARL3):c.445C>T (p.Arg149Cys)	ARL3 (R149C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1629921	NM_004311.4(ARL3):c.435G>A (p.Leu145=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104568	NM_004311.4(ARL3):c.427_430del (p.Leu143fs)	ARL3 (L143fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1951200	NM_004311.4(ARL3):c.430A>T (p.Asn144Tyr)	ARL3 (N144Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 940474	NM_004311.4(ARL3):c.419C>T (p.Ala140Val)	ARL3 (A140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424229	NM_004311.4(ARL3):c.416T>C (p.Ile139Thr)	ARL3 (I139T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529427	NM_004311.4(ARL3):c.404C>T (p.Pro135Leu)	ARL3 (P135L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 1491254	NM_004311.4(ARL3):c.403C>T (p.Pro135Ser)	ARL3 (P135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872882	NM_004311.4(ARL3):c.393C>T (p.Leu131=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009436	NM_004311.4(ARL3):c.379A>G (p.Lys127Glu)	ARL3 (K127E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983052	NM_004311.4(ARL3):c.367A>G (p.Ile123Val)	ARL3 (I123V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3315066	NM_004311.4(ARL3):c.362T>C (p.Val121Ala)	ARL3 (V121A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1521101	NM_004311.4(ARL3):c.355G>A (p.Val119Met)	ARL3 (V119M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997972	NM_004311.4(ARL3):c.353G>T (p.Cys118Phe)	ARL3 (C118F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 2717766	NM_004311.4(ARL3):c.352T>C (p.Cys118Arg)	ARL3 (C118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779212	NM_004311.4(ARL3):c.351T>C (p.Ser117=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796035	NM_004311.4(ARL3):c.337del (p.Glu113fs)	ARL3 (E113fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1971362	NM_004311.4(ARL3):c.336G>A (p.Glu112=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967695	NM_004311.4(ARL3):c.328T>G (p.Leu110Val)	ARL3 (L110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148387	NM_004311.4(ARL3):c.324G>A (p.Ala108=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522218	NM_004311.4(ARL3):c.316-2A>G	ARL3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1640042	NM_004311.4(ARL3):c.316-10C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967571	NM_004311.4(ARL3):c.316-17C>G	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671786	NM_004311.4(ARL3):c.315+16T>C	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661670	NM_004311.4(ARL3):c.315+15T>G	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653702	NM_004311.4(ARL3):c.315+11C>A	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 940296	NM_004311.4(ARL3):c.311G>A (p.Gly104Asp)	ARL3 (G104D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579640	NM_004311.4(ARL3):c.309G>A (p.Thr103=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503851	NM_004311.4(ARL3):c.308C>T (p.Thr103Met)	ARL3 (T103M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617788	NM_004311.4(ARL3):c.296G>T (p.Arg99Ile)	ARL3 (R99I)	Single nucleotide variant (missense variant)	Progressive cone degeneration	GPathogenic
Select item 1956774	NM_004311.4(ARL3):c.288C>T (p.Asp96=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1006849	NM_004311.4(ARL3):c.288C>A (p.Asp96Glu)	ARL3 (D96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1096208	NM_004311.4(ARL3):c.279C>T (p.Asp93=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499673	NM_004311.4(ARL3):c.277G>A (p.Asp93Asn)	ARL3 (D93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1108229	NM_004311.4(ARL3):c.276C>T (p.Ile92=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755801	NM_004311.4(ARL3):c.269A>C (p.Tyr90Ser)	ARL3 (Y90S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587684	NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys)	ARL3 (Y90C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1513584	NM_004311.4(ARL3):c.265-3T>A	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1604331	NM_004311.4(ARL3):c.265-20CTT[2]	ARL3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1192444	NM_004311.4(ARL3):c.264+49_264+50del	ARL3	Deletion (intron variant)	Joubert syndrome 35	GBenign
Select item 1154217	NM_004311.4(ARL3):c.264+18C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104262	NM_004311.4(ARL3):c.264+13_264+15del	ARL3	Deletion (intron variant)	not provided	GLikely benign
Select item 1009242	NM_004311.4(ARL3):c.264+6T>A	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1376447	NM_004311.4(ARL3):c.256G>A (p.Asp86Asn)	ARL3 (D86N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136495	NM_004311.4(ARL3):c.255C>T (p.Thr85=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045649	NM_004311.4(ARL3):c.241T>G (p.Tyr81Asp)	ARL3 (Y81D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609910	NM_004311.4(ARL3):c.240T>C (p.Asn80=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185923	NM_004311.4(ARL3):c.222C>T (p.Ile74=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965940	NM_004311.4(ARL3):c.215G>A (p.Arg72Lys)	ARL3 (R72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354792	NM_004311.4(ARL3):c.211C>T (p.Gln71Ter)	ARL3 (Q71*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1520361	NM_004311.4(ARL3):c.208G>A (p.Gly70Arg)	ARL3 (G70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943837	NM_004311.4(ARL3):c.200A>T (p.Asp67Val)	ARL3 (D67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237172	NM_004311.4(ARL3):c.199G>A (p.Asp67Asn)	ARL3 (D67N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 83	GUncertain significance
Select item 1902878	NM_004311.4(ARL3):c.195A>G (p.Val65=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095656	NM_004311.4(ARL3):c.192T>C (p.Asn64=)	ARL3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 1430534	NM_004311.4(ARL3):c.169C>T (p.Gln57Ter)	ARL3 (Q57*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 969766	NM_004311.4(ARL3):c.166G>A (p.Val56Ile)	ARL3 (V56I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074794	NM_004311.4(ARL3):c.164G>A (p.Ser55Asn)	ARL3 (S55N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823933	NM_004311.4(ARL3):c.160A>T (p.Lys54Ter)	ARL3 (K54*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3028198	NM_004311.4(ARL3):c.155A>C (p.Asn52Thr)	ARL3 (N52T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 958231	NM_004311.4(ARL3):c.155A>G (p.Asn52Ser)	ARL3 (N52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077891	NM_004311.4(ARL3):c.153C>A (p.Phe51Leu)	ARL3 (F51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352443	NM_004311.4(ARL3):c.148-2A>G	ARL3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1496683	NM_004311.4(ARL3):c.148-3C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1116016	NM_004311.4(ARL3):c.148-10C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712750	NM_004311.4(ARL3):c.148-18T>G	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640328	NM_004311.4(ARL3):c.147+17C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412683	NM_004311.4(ARL3):c.146A>G (p.Gln49Arg)	ARL3 (Q49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900275	NM_004311.4(ARL3):c.144A>G (p.Thr48=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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