ClinVar for Gene (Select 9915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352761	NM_014862.4(ARNT2):c.784dup (p.Arg262fs)	ARNT2 (R262fs)	Duplication (frameshift variant)	ARNT2-related disorder	GUncertain significance
Select item 3352054	NM_014862.4(ARNT2):c.372C>T (p.Thr124=)	ARNT2	Single nucleotide variant (synonymous variant)	ARNT2-related disorder	GLikely benign
Select item 3315909	NM_014862.4(ARNT2):c.1363G>A (p.Gly455Arg)	ARNT2 (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129743	NM_014862.4(ARNT2):c.739C>G (p.Pro247Ala)	ARNT2 (P247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129742	NM_014862.4(ARNT2):c.729T>G (p.Cys243Trp)	ARNT2 (C243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129741	NM_014862.4(ARNT2):c.573C>G (p.Asp191Glu)	ARNT2 (D191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129740	NM_014862.4(ARNT2):c.368C>A (p.Ser123Tyr)	ARNT2 (S123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129739	NM_014862.4(ARNT2):c.2008G>A (p.Gly670Ser)	ARNT2 (G670S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129738	NM_014862.4(ARNT2):c.1694G>A (p.Arg565Gln)	ARNT2 (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129737	NM_014862.4(ARNT2):c.1544C>T (p.Ala515Val)	ARNT2 (A515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129736	NM_014862.4(ARNT2):c.1429G>C (p.Gly477Arg)	ARNT2 (G477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3021201	NM_014862.4(ARNT2):c.877+18T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967691	NM_014862.4(ARNT2):c.1851C>G (p.Ser617=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965331	NM_014862.4(ARNT2):c.195-17T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914768	NM_014862.4(ARNT2):c.1316+4C>T	ARNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2913826	NM_014862.4(ARNT2):c.1018C>T (p.Arg340Trp)	ARNT2 (R340W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896371	NM_014862.4(ARNT2):c.1312G>A (p.Val438Ile)	ARNT2 (V438I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857757	NM_014862.4(ARNT2):c.2067C>T (p.Pro689=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821408	NM_014862.4(ARNT2):c.162T>C (p.Asp54=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785957	NM_014862.4(ARNT2):c.146+19T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783629	NM_014862.4(ARNT2):c.1959C>G (p.Pro653=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742237	NM_014862.4(ARNT2):c.623-20T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684765	GRCh37/hg19 15q25.1(chr15:80208164-81551831)x3	ABHD17C, ARNT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2645628	NM_014862.4(ARNT2):c.828A>G (p.Gln276=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623961	NM_014862.4(ARNT2):c.463G>C (p.Ala155Pro)	ARNT2 (A155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616875	NM_014862.4(ARNT2):c.1072A>G (p.Ile358Val)	ARNT2 (I358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613516	NM_014862.4(ARNT2):c.91G>A (p.Gly31Arg)	ARNT2 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2557515	NM_014862.4(ARNT2):c.1223G>A (p.Arg408Gln)	ARNT2 (R408Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551082	NM_014862.4(ARNT2):c.1556A>G (p.Gln519Arg)	ARNT2 (Q519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525289	NM_014862.4(ARNT2):c.1736C>T (p.Pro579Leu)	ARNT2 (P579L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2474215	NM_014862.4(ARNT2):c.238A>G (p.Thr80Ala)	ARNT2 (T80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454686	NM_014862.4(ARNT2):c.125G>C (p.Arg42Pro)	ARNT2 (R42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 2425994	NC_000015.9:g.(?_80869187)_(80869326_?)del	ARNT2	Deletion	not provided	GPathogenic
Select item 2420173	NM_014862.4(ARNT2):c.156C>T (p.Phe52=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419290	NM_014862.4(ARNT2):c.1413C>T (p.Ala471=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419279	NM_014862.4(ARNT2):c.2130C>A (p.Gly710=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418463	NM_014862.4(ARNT2):c.777G>A (p.Met259Ile)	ARNT2 (M259I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415959	NM_014862.4(ARNT2):c.124C>T (p.Arg42Cys)	ARNT2 (R42C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414951	NM_014862.4(ARNT2):c.1869G>A (p.Ser623=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414456	NM_014862.4(ARNT2):c.333G>A (p.Ser111=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2384549	NM_014862.4(ARNT2):c.1820C>T (p.Pro607Leu)	ARNT2 (P607L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336935	NM_014862.4(ARNT2):c.1148G>A (p.Arg383His)	ARNT2, LOC101929586 (R383H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2331005	NM_014862.4(ARNT2):c.8C>A (p.Thr3Asn)	ARNT2 (T3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305010	NM_014862.4(ARNT2):c.1982A>G (p.Gln661Arg)	ARNT2 (Q661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283270	NM_014862.4(ARNT2):c.1481G>A (p.Arg494Gln)	ARNT2 (R494Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270345	NM_014862.4(ARNT2):c.499G>A (p.Val167Ile)	ARNT2 (V167I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2255269	NM_014862.4(ARNT2):c.97G>A (p.Val33Met)	ARNT2 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233774	NM_014862.4(ARNT2):c.554A>G (p.Glu185Gly)	ARNT2 (E185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222717	NM_014862.4(ARNT2):c.1441G>C (p.Glu481Gln)	ARNT2 (E481Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209698	NM_014862.4(ARNT2):c.1310A>G (p.Asn437Ser)	ARNT2 (N437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191949	NM_014862.4(ARNT2):c.347T>C (p.Met116Thr)	ARNT2 (M116T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190349	NM_014862.4(ARNT2):c.213C>T (p.Ile71=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189028	NM_014862.4(ARNT2):c.1636G>A (p.Gly546Arg)	ARNT2 (G546R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2179608	NM_014862.4(ARNT2):c.1737G>A (p.Pro579=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178854	NM_014862.4(ARNT2):c.360G>C (p.Gly120=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176842	NM_014862.4(ARNT2):c.1745C>T (p.Pro582Leu)	ARNT2 (P582L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172006	NM_014862.4(ARNT2):c.1938C>T (p.Ser646=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170438	NM_014862.4(ARNT2):c.1079A>G (p.Tyr360Cys)	ARNT2 (Y360C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167592	NM_014862.4(ARNT2):c.1449G>A (p.Ala483=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148823	NM_014862.4(ARNT2):c.1448C>T (p.Ala483Val)	ARNT2 (A483V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135086	NM_014862.4(ARNT2):c.637C>G (p.Leu213Val)	ARNT2 (L213V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131409	NM_014862.4(ARNT2):c.1521G>T (p.Lys507Asn)	ARNT2 (K507N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116830	NM_014862.4(ARNT2):c.283G>T (p.Ala95Ser)	ARNT2 (A95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111092	NM_014862.4(ARNT2):c.7A>G (p.Thr3Ala)	ARNT2 (T3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089029	NM_014862.4(ARNT2):c.955-5C>A	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086955	NM_014862.4(ARNT2):c.893A>C (p.Glu298Ala)	ARNT2 (E298A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086179	NM_014862.4(ARNT2):c.1027T>C (p.Ser343Pro)	ARNT2 (S343P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080769	NM_014862.4(ARNT2):c.552T>C (p.Tyr184=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079535	NM_014862.4(ARNT2):c.785G>A (p.Arg262Lys)	ARNT2 (R262K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073352	NM_014862.4(ARNT2):c.90C>T (p.Thr30=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066743	NM_014862.4(ARNT2):c.795T>C (p.Asn265=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066177	NM_014862.4(ARNT2):c.125G>A (p.Arg42His)	ARNT2 (R42H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062777	NM_014862.4(ARNT2):c.1731T>A (p.Ser577Arg)	ARNT2 (S577R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045760	NM_014862.4(ARNT2):c.476G>A (p.Arg159Gln)	ARNT2 (R159Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039678	NM_014862.4(ARNT2):c.1728G>T (p.Gly576=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2017879	NM_014862.4(ARNT2):c.18G>C (p.Ala6=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007346	NM_014862.4(ARNT2):c.66G>T (p.Leu22Phe)	ARNT2 (L22F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998095	NM_014862.4(ARNT2):c.954+13T>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986188	NM_014862.4(ARNT2):c.659A>G (p.Lys220Arg)	ARNT2 (K220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985444	NM_014862.4(ARNT2):c.327C>T (p.Ala109=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983045	NM_014862.4(ARNT2):c.1909C>G (p.Pro637Ala)	ARNT2 (P637A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978043	NM_014862.4(ARNT2):c.1506T>A (p.Ile502=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972623	NM_014862.4(ARNT2):c.146+16G>A	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971148	NM_014862.4(ARNT2):c.62C>T (p.Thr21Met)	ARNT2 (T21M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1965523	NM_014862.4(ARNT2):c.1588T>C (p.Ser530Pro)	ARNT2 (S530P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962459	NM_014862.4(ARNT2):c.536T>C (p.Phe179Ser)	ARNT2 (F179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959588	NM_014862.4(ARNT2):c.2055+18C>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956314	NM_014862.4(ARNT2):c.889C>A (p.Pro297Thr)	ARNT2 (P297T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952166	NM_014862.4(ARNT2):c.623-9C>T	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950179	NM_014862.4(ARNT2):c.409-18A>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949298	NM_014862.4(ARNT2):c.1125C>T (p.His375=)	ARNT2, LOC101929586	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1946819	NM_014862.4(ARNT2):c.475C>T (p.Arg159Ter)	ARNT2 (R159*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1939223	NM_014862.4(ARNT2):c.2109C>T (p.Ile703=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937678	NM_014862.4(ARNT2):c.785G>T (p.Arg262Met)	ARNT2 (R262M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933273	NM_014862.4(ARNT2):c.111G>A (p.Gly37=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1929804	NM_014862.4(ARNT2):c.495C>G (p.Asp165Glu)	ARNT2 (D165E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926945	NM_014862.4(ARNT2):c.1089+10T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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