9915[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58354	GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3	ARNT2, ARNT2-DT +38 more	Copy number gain	See cases	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 2331005	NM_014862.4(ARNT2):c.8C>A (p.Thr3Asn)	ARNT2 (T3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739421	NM_014862.4(ARNT2):c.9C>T (p.Thr3=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017879	NM_014862.4(ARNT2):c.18G>C (p.Ala6=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515639	NM_014862.4(ARNT2):c.28C>T (p.Pro10Ser)	ARNT2 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693594	NM_014862.4(ARNT2):c.31+6098A>G	ARNT2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693593	NM_014862.4(ARNT2):c.32-9124C>T	ARNT2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1971148	NM_014862.4(ARNT2):c.62C>T (p.Thr21Met)	ARNT2 (T21M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1576820	NM_014862.4(ARNT2):c.69C>T (p.Pro23=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073352	NM_014862.4(ARNT2):c.90C>T (p.Thr30=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2255269	NM_014862.4(ARNT2):c.97G>A (p.Val33Met)	ARNT2 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1427144	NM_014862.4(ARNT2):c.97G>C (p.Val33Leu)	ARNT2 (V33L)	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 2415959	NM_014862.4(ARNT2):c.124C>T (p.Arg42Cys)	ARNT2 (R42C)	Single nucleotide variant (missense variant)	not provided	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 2066177	NM_014862.4(ARNT2):c.125G>A (p.Arg42His)	ARNT2 (R42H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358706	NM_014862.4(ARNT2):c.137G>A (p.Arg46Gln)	ARNT2 (R46Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165309	NM_014862.4(ARNT2):c.146+15C>T	ARNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972623	NM_014862.4(ARNT2):c.146+16G>A	ARNT2	Single nucleotide variant (intron 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 2420173	NM_014862.4(ARNT2):c.156C>T (p.Phe52=)	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 1192449	NM_014862.4(ARNT2):c.195-28del	ARNT2	Deletion (intron variant)	Webb-Dattani syndrome	GBenign
Select item 2965331	NM_014862.4(ARNT2):c.195-17T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168723	NM_014862.4(ARNT2):c.195-16C>T	ARNT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1631292	NM_014862.4(ARNT2):c.195-15G>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656566	NM_014862.4(ARNT2):c.195-7T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190349	NM_014862.4(ARNT2):c.213C>T (p.Ile71=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667272	NM_014862.4(ARNT2):c.213C>A (p.Ile71=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1169414	NM_014862.4(ARNT2):c.282C>T (p.Ser94=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1985444	NM_014862.4(ARNT2):c.327C>T (p.Ala109=)	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 2191949	NM_014862.4(ARNT2):c.347T>C (p.Met116Thr)	ARNT2 (M116T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178854	NM_014862.4(ARNT2):c.360G>C (p.Gly120=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3352054	NM_014862.4(ARNT2):c.372C>T (p.Thr124=)	ARNT2	Single nucleotide variant (synonymous variant)	ARNT2-related disorder	GLikely benign
Select item 1421057	NM_014862.4(ARNT2):c.380C>T (p.Ala127Val)	ARNT2 (A127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727805	NM_014862.4(ARNT2):c.393C>T (p.Ser131=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1476879	NM_014862.4(ARNT2):c.395T>C (p.Phe132Ser)	ARNT2 (F132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651384	NM_014862.4(ARNT2):c.409-20T>A	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 2623961	NM_014862.4(ARNT2):c.463G>C (p.Ala155Pro)	ARNT2 (A155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1946819	NM_014862.4(ARNT2):c.475C>T (p.Arg159Ter)	ARNT2 (R159*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1368234	NM_014862.4(ARNT2):c.493G>C (p.Asp165His)	ARNT2 (D165H)	Single nucleotide variant (missense 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 1504053	NM_014862.4(ARNT2):c.497C>G (p.Ser166Cys)	ARNT2 (S166C)	Single nucleotide variant (missense variant)	not provided	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 1962459	NM_014862.4(ARNT2):c.536T>C (p.Phe179Ser)	ARNT2 (F179S)	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 2233774	NM_014862.4(ARNT2):c.554A>G (p.Glu185Gly)	ARNT2 (E185G)	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 1582114	NM_014862.4(ARNT2):c.573C>T (p.Asp191=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416200	NM_014862.4(ARNT2):c.574G>A (p.Val192Met)	ARNT2 (V192M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742237	NM_014862.4(ARNT2):c.623-20T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601739	NM_014862.4(ARNT2):c.623-14TC[6]	ARNT2	Microsatellite (intron variant)	not provided	GBenign
Select item 1952166	NM_014862.4(ARNT2):c.623-9C>T	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1577168	NM_014862.4(ARNT2):c.651G>A (p.Thr217=)	ARNT2	Single nucleotide variant (synonymous 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 1347700	NM_014862.4(ARNT2):c.666G>T (p.Gly222=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1524862	NM_014862.4(ARNT2):c.687G>A (p.Met229Ile)	ARNT2 (M229I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741439	NM_014862.4(ARNT2):c.699G>A (p.Ser233=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750084	NM_014862.4(ARNT2):c.703C>A (p.Arg235=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896740	NM_014862.4(ARNT2):c.725+13G>A	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192450	NM_014862.4(ARNT2):c.726-69T>C	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome +1 more	GBenign
Select item 1633342	NM_014862.4(ARNT2):c.726-20A>T	ARNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981216	NM_014862.4(ARNT2):c.726-3T>G	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome	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 3129743	NM_014862.4(ARNT2):c.739C>G (p.Pro247Ala)	ARNT2 (P247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736495	NM_014862.4(ARNT2):c.765A>G (p.Arg255=)	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 3352761	NM_014862.4(ARNT2):c.784dup (p.Arg262fs)	ARNT2 (R262fs)	Duplication (frameshift variant)	ARNT2-related disorder	GUncertain significance
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 1937678	NM_014862.4(ARNT2):c.785G>T (p.Arg262Met)	ARNT2 (R262M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801400	NM_014862.4(ARNT2):c.791+5G>A	ARNT2	Single nucleotide variant (intron variant)	Webb-Dattani syndrome	GLikely pathogenic
Select item 1652571	NM_014862.4(ARNT2):c.791+18T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568627	NM_014862.4(ARNT2):c.792-14A>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549266	NM_014862.4(ARNT2):c.792-9C>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2066743	NM_014862.4(ARNT2):c.795T>C (p.Asn265=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645628	NM_014862.4(ARNT2):c.828A>G (p.Gln276=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021201	NM_014862.4(ARNT2):c.877+18T>C	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 2086955	NM_014862.4(ARNT2):c.893A>C (p.Glu298Ala)	ARNT2 (E298A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790152	NM_014862.4(ARNT2):c.916G>A (p.Gly306Ser)	ARNT2 (G306S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1138324	NM_014862.4(ARNT2):c.933C>T (p.Leu311=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998095	NM_014862.4(ARNT2):c.954+13T>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630778	NM_014862.4(ARNT2):c.954+15G>A	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601122	NM_014862.4(ARNT2):c.954+19C>G	ARNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1652581	NM_014862.4(ARNT2):c.955-12T>C	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089029	NM_014862.4(ARNT2):c.955-5C>A	ARNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651324	NM_014862.4(ARNT2):c.996G>A (p.Ser332=)	ARNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 801401	NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser)	ARNT2 (P334S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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