ClinVar for Gene (Select 403) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3052624	NM_004311.4(ARL3):c.-8G>C	ARL3	Single nucleotide variant (5 prime UTR variant)	ARL3-related disorder	GLikely benign
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 2967655	NM_004311.4(ARL3):c.448G>A (p.Asp150Asn)	ARL3 (D150N)	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 2849886	NM_004311.4(ARL3):c.93C>T (p.Thr31=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823933	NM_004311.4(ARL3):c.160A>T (p.Lys54Ter)	ARL3 (K54*)	Single nucleotide variant (nonsense)	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 2796035	NM_004311.4(ARL3):c.337del (p.Glu113fs)	ARL3 (E113fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2779212	NM_004311.4(ARL3):c.351T>C (p.Ser117=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777616	NM_004311.4(ARL3):c.23G>T (p.Arg8Leu)	ARL3 (R8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2750129	NM_004311.4(ARL3):c.97C>T (p.Leu33Phe)	ARL3 (L33F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2712750	NM_004311.4(ARL3):c.148-18T>G	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2417852	NM_004311.4(ARL3):c.24C>G (p.Arg8=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337671	NM_004311.4(ARL3):c.35G>A (p.Ser12Asn)	ARL3 (S12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317615	NM_004311.4(ARL3):c.116C>G (p.Ser39Cys)	ARL3 (S39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185923	NM_004311.4(ARL3):c.222C>T (p.Ile74=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2129550	NM_004311.4(ARL3):c.522C>T (p.Cys174=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2118797	NM_004311.4(ARL3):c.501+11A>G	ARL3	Single nucleotide variant (intron 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 2104262	NM_004311.4(ARL3):c.264+13_264+15del	ARL3	Deletion (intron variant)	not provided	GLikely benign
Select item 2091442	NM_004311.4(ARL3):c.3+18G>C	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2074794	NM_004311.4(ARL3):c.164G>A (p.Ser55Asn)	ARL3 (S55N)	Single nucleotide variant (missense 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 2009801	NM_004311.4(ARL3):c.482T>G (p.Leu161Arg)	ARL3 (L161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2002365	NM_004311.4(ARL3):c.4-3A>T	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1999412	NM_004311.4(ARL3):c.37G>T (p.Ala13Ser)	ARL3 (A13S)	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 1979909	NM_004311.4(ARL3):c.77A>G (p.Asp26Gly)	ARL3 (D26G)	Single nucleotide variant (missense 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 1967571	NM_004311.4(ARL3):c.316-17C>G	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 1956774	NM_004311.4(ARL3):c.288C>T (p.Asp96=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1938498	NM_004311.4(ARL3):c.4G>T (p.Gly2Cys)	ARL3 (G2C)	Single nucleotide variant (missense variant)	not provided	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 1900275	NM_004311.4(ARL3):c.144A>G (p.Thr48=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1648552	NM_004311.4(ARL3):c.72C>T (p.Gly24=)	ARL3	Single nucleotide variant (synonymous 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 1640042	NM_004311.4(ARL3):c.316-10C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629921	NM_004311.4(ARL3):c.435G>A (p.Leu145=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609910	NM_004311.4(ARL3):c.240T>C (p.Asn80=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606224	NM_004311.4(ARL3):c.3+9G>A	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604331	NM_004311.4(ARL3):c.265-20CTT[2]	ARL3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1587169	NM_004311.4(ARL3):c.502-7C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582974	NM_004311.4(ARL3):c.45C>T (p.Asp15=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579640	NM_004311.4(ARL3):c.309G>A (p.Thr103=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558255	NM_004311.4(ARL3):c.3+16T>G	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 1538823	NM_004311.4(ARL3):c.3+9G>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529427	NM_004311.4(ARL3):c.404C>T (p.Pro135Leu)	ARL3 (P135L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1522218	NM_004311.4(ARL3):c.316-2A>G	ARL3	Single nucleotide variant (splice acceptor variant)	not provided	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 1520361	NM_004311.4(ARL3):c.208G>A (p.Gly70Arg)	ARL3 (G70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515502	NM_004311.4(ARL3):c.3+5G>A	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1513584	NM_004311.4(ARL3):c.265-3T>A	ARL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1499673	NM_004311.4(ARL3):c.277G>A (p.Asp93Asn)	ARL3 (D93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499287	NC_000010.10:g.(?_104262628)_(104595248_?)dup	ARL3, CYP17A1 +4 more	Duplication	Medulloblastoma +1 more	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 1491254	NM_004311.4(ARL3):c.403C>T (p.Pro135Ser)	ARL3 (P135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467423	NM_004311.4(ARL3):c.64C>T (p.Leu22Phe)	ARL3 (L22F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460216	NC_000010.10:g.(?_104262628)_(104595248_?)del	ARL3, CYP17A1 +4 more	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 1443823	NC_000010.10:g.(?_104474010)_(104474032_?)del	ARL3	Deletion	not provided	GUncertain significance
Select item 1430534	NM_004311.4(ARL3):c.169C>T (p.Gln57Ter)	ARL3 (Q57*)	Single nucleotide variant (nonsense)	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 1412683	NM_004311.4(ARL3):c.146A>G (p.Gln49Arg)	ARL3 (Q49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411129	NC_000010.10:g.(?_104445553)_(104449720_?)del	ARL3	Deletion	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 1376447	NM_004311.4(ARL3):c.256G>A (p.Asp86Asn)	ARL3 (D86N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368845	NM_004311.4(ARL3):c.501+6A>G	ARL3	Single nucleotide variant (intron 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 1356318	NM_004311.4(ARL3):c.3+3G>T	ARL3	Single nucleotide variant (intron 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 1353326	NM_004311.4(ARL3):c.70G>A (p.Gly24Ser)	ARL3 (G24S)	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 1352025	NM_004311.4(ARL3):c.3+2T>C	ARL3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1327584	NM_004311.4(ARL3):c.86G>T (p.Gly29Val)	ARL3 (G29V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 83	GUncertain significance
Select item 1192445	NM_004311.4(ARL3):c.-75C>T	ARL3	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa 83	GBenign
Select item 1192444	NM_004311.4(ARL3):c.264+49_264+50del	ARL3	Deletion (intron variant)	Joubert syndrome 35	GBenign
Select item 1165297	NM_004311.4(ARL3):c.114A>G (p.Ala38=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1154217	NM_004311.4(ARL3):c.264+18C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1149343	NM_004311.4(ARL3):c.495C>T (p.Gly165=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148387	NM_004311.4(ARL3):c.324G>A (p.Ala108=)	ARL3	Single nucleotide variant (synonymous variant)	ARL3-related disorder +1 more	GLikely benign
Select item 1136495	NM_004311.4(ARL3):c.255C>T (p.Thr85=)	ARL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116016	NM_004311.4(ARL3):c.148-10C>T	ARL3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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