ClinVar for Gene (Select 55827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295645	NM_001143674.4(MPC2):c.202A>C (p.Ser68Arg)	DCAF6, MPC2 (S68R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271001	NM_001198956.2(DCAF6):c.265A>G (p.Ile89Val)	DCAF6 (I89V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271000	NM_001198956.2(DCAF6):c.1694C>T (p.Thr565Ile)	DCAF6 (T488I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270999	NM_001198956.2(DCAF6):c.269G>T (p.Arg90Leu)	DCAF6 (R59L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270998	NM_001198956.2(DCAF6):c.875C>G (p.Thr292Ser)	DCAF6 (T292S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270997	NM_001198956.2(DCAF6):c.1634C>G (p.Pro545Arg)	DCAF6 (P468R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270996	NM_001198956.2(DCAF6):c.2003G>A (p.Arg668His)	DCAF6 (R464H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270995	NM_001198956.2(DCAF6):c.258G>C (p.Leu86Phe)	DCAF6 (L86F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3270994	NM_001198956.2(DCAF6):c.455A>G (p.Asn152Ser)	DCAF6, LOC126805909 (N152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270993	NM_001198956.2(DCAF6):c.2453A>G (p.Asn818Ser)	DCAF6 (N747S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270992	NM_001198956.2(DCAF6):c.584C>T (p.Thr195Met)	DCAF6 (T48M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270990	NM_001198956.2(DCAF6):c.1411C>T (p.Arg471Cys)	DCAF6 (R440C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269257	NM_018417.6(ADCY10):c.520G>A (p.Asp174Asn)	ADCY10, DCAF6 (D21N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269247	NM_018417.6(ADCY10):c.526C>T (p.Arg176Cys)	ADCY10, DCAF6 (R176C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081347	NM_018417.6(ADCY10):c.878C>T (p.Thr293Met)	ADCY10, DCAF6 (T201M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081342	NM_018417.6(ADCY10):c.767A>G (p.Lys256Arg)	ADCY10, DCAF6 (K256R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081340	NM_018417.6(ADCY10):c.761C>T (p.Thr254Met)	ADCY10, DCAF6 (T101M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081150	NM_018417.6(ADCY10):c.163A>T (p.Thr55Ser)	ADCY10, DCAF6 (T55S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081135	NM_018417.6(ADCY10):c.1489A>T (p.Met497Leu)	ADCY10, DCAF6 (M344L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080331	NM_001198956.2(DCAF6):c.926G>A (p.Arg309His)	DCAF6 (R309H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080330	NM_001198956.2(DCAF6):c.2842G>A (p.Glu948Lys)	DCAF6 (E891K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080328	NM_001198956.2(DCAF6):c.1791A>C (p.Glu597Asp)	DCAF6 (E373D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080327	NM_001198956.2(DCAF6):c.1757T>C (p.Ile586Thr)	DCAF6 (I362T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080326	NM_001198956.2(DCAF6):c.173G>A (p.Cys58Tyr)	DCAF6 (C58Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080325	NM_001198956.2(DCAF6):c.1594C>T (p.Leu532Phe)	DCAF6 (L532F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080324	NM_001198956.2(DCAF6):c.1582G>A (p.Gly528Arg)	DCAF6 (G497R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080323	NM_001198956.2(DCAF6):c.1444G>A (p.Ala482Thr)	DCAF6 (A451T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080322	NM_001198956.2(DCAF6):c.1382T>G (p.Phe461Cys)	DCAF6 (F461C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3058198	NM_018417.6(ADCY10):c.293-20C>T	ADCY10, DCAF6	Single nucleotide variant (5 prime UTR variant +1 more)	ADCY10-related disorder	GLikely benign
Select item 3045832	NM_018417.6(ADCY10):c.213G>A (p.Leu71=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant +2 more)	ADCY10-related disorder	GLikely benign
Select item 3023936	NM_018417.6(ADCY10):c.595C>T (p.Arg199Trp)	ADCY10, DCAF6 (R199W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000070	NM_018417.6(ADCY10):c.1023C>T (p.Gly341=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972942	NM_018417.6(ADCY10):c.27G>A (p.Gln9=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2972525	NM_018417.6(ADCY10):c.705C>T (p.Thr235=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972334	NM_018417.6(ADCY10):c.702G>A (p.Thr234=)	DCAF6, ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963510	NM_018417.6(ADCY10):c.292+6G>A	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2895388	NM_018417.6(ADCY10):c.369C>G (p.Ser123Arg)	ADCY10, DCAF6 (S31R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894612	NM_018417.6(ADCY10):c.1362A>T (p.Ala454=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	ADCY10-related disorder +1 more	GBenign/Likely benign
Select item 2891680	NM_018417.6(ADCY10):c.1206C>T (p.His402=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891547	NM_018417.6(ADCY10):c.1071C>T (p.Asp357=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891098	NM_018417.6(ADCY10):c.1490T>A (p.Met497Lys)	ADCY10, DCAF6 (M344K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863448	NM_018417.6(ADCY10):c.28G>C (p.Asp10His)	ADCY10, DCAF6 (D10H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2834689	NM_018417.6(ADCY10):c.1217-20C>A	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834688	NM_018417.6(ADCY10):c.1217-12T>A	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796200	NM_018417.6(ADCY10):c.1378T>C (p.Tyr460His)	ADCY10, DCAF6 (Y368H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787037	NM_018417.6(ADCY10):c.149-11A>G	DCAF6, ADCY10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776642	NM_018417.6(ADCY10):c.1196C>T (p.Thr399Ile)	ADCY10, DCAF6 (T399I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770834	NM_018417.6(ADCY10):c.331C>G (p.Gln111Glu)	ADCY10, DCAF6 (Q111E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2756741	NM_018417.6(ADCY10):c.697dup (p.Cys233fs)	ADCY10, DCAF6 (C233fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2756237	NM_018417.6(ADCY10):c.402G>A (p.Glu134=)	ADCY10, DCAF6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2756222	NM_018417.6(ADCY10):c.82C>G (p.His28Asp)	ADCY10, DCAF6 (H28D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2755580	NM_018417.6(ADCY10):c.889G>A (p.Val297Met)	ADCY10, DCAF6 (V144M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718650	NM_018417.6(ADCY10):c.1119C>T (p.Cys373=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696979	NM_018417.6(ADCY10):c.253+13A>G	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690842	NM_018417.6(ADCY10):c.710T>C (p.Met237Thr)	ADCY10, DCAF6 (M145T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2639530	NM_018417.6(ADCY10):c.1021-8C>T	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2627674	NM_018417.6(ADCY10):c.386T>C (p.Leu129Ser)	ADCY10, DCAF6 (L129S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial idiopathic hypercalciuria	GUncertain significance
Select item 2624263	NM_001198956.2(DCAF6):c.218C>T (p.Thr73Ile)	DCAF6 (T73I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2623586	NM_001198956.2(DCAF6):c.514C>T (p.Arg172Cys)	DCAF6, LOC126805909 (R141C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608817	NM_001198956.2(DCAF6):c.1481C>A (p.Thr494Asn)	DCAF6 (T494N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605527	NM_001198956.2(DCAF6):c.1312T>C (p.Ser438Pro)	DCAF6 (S291P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604354	NM_001198956.2(DCAF6):c.71C>T (p.Pro24Leu)	DCAF6, LOC129931878 +1 more (P24L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2592146	NM_018417.6(ADCY10):c.1385A>G (p.Tyr462Cys)	ADCY10, DCAF6 (Y370C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2585314	NM_018417.6(ADCY10):c.257T>C (p.Val86Ala)	ADCY10, DCAF6 (V86A)	Single nucleotide variant (missense variant +1 more)	Familial idiopathic hypercalciuria	GUncertain significance
Select item 2561081	NM_018417.6(ADCY10):c.512C>G (p.Ala171Gly)	ADCY10, DCAF6 (A79G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553976	NM_018417.6(ADCY10):c.709A>T (p.Met237Leu)	ADCY10, DCAF6 (M84L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2544034	NM_001198956.2(DCAF6):c.391A>G (p.Thr131Ala)	DCAF6 (T100A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540528	NM_018417.6(ADCY10):c.315G>C (p.Trp105Cys)	ADCY10, DCAF6 (W105C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531151	NM_018417.6(ADCY10):c.1336C>T (p.Pro446Ser)	ADCY10, DCAF6 (P354S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531013	NM_001198956.2(DCAF6):c.310C>T (p.Pro104Ser)	DCAF6 (P73S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526214	NM_001198956.2(DCAF6):c.877C>T (p.Pro293Ser)	DCAF6 (P146S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523191	NM_018417.6(ADCY10):c.1421C>T (p.Ala474Val)	ADCY10, DCAF6 (A321V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516393	NM_018417.6(ADCY10):c.1580T>C (p.Met527Thr)	ADCY10, DCAF6 (M435T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2495761	NM_001198956.2(DCAF6):c.727C>T (p.Arg243Cys)	DCAF6 (R212C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483430	NM_001198956.2(DCAF6):c.2138C>T (p.Thr713Ile)	DCAF6 (T509I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461173	NM_001198956.2(DCAF6):c.1589T>C (p.Met530Thr)	DCAF6 (M499T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454763	NM_001198956.2(DCAF6):c.751A>G (p.Asn251Asp)	DCAF6 (N104D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2407077	NM_001198956.2(DCAF6):c.1412G>A (p.Arg471His)	DCAF6 (R440H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399474	NM_001198956.2(DCAF6):c.1802C>T (p.Pro601Leu)	DCAF6 (P524L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391414	NM_001198956.2(DCAF6):c.2137A>C (p.Thr713Pro)	DCAF6 (T489P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377830	NM_018417.6(ADCY10):c.586C>T (p.Leu196Phe)	ADCY10, DCAF6 (L104F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370657	NM_001198956.2(DCAF6):c.1195A>G (p.Met399Val)	DCAF6 (M252V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367996	NM_018417.6(ADCY10):c.1207G>A (p.Glu403Lys)	ADCY10, DCAF6 (E250K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367890	NM_018417.6(ADCY10):c.1199T>C (p.Val400Ala)	ADCY10, DCAF6 (V247A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358757	NM_001198956.2(DCAF6):c.1798G>A (p.Val600Ile)	DCAF6 (V396I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343913	NM_001198956.2(DCAF6):c.1517A>G (p.His506Arg)	DCAF6 (H475R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343775	NM_018417.6(ADCY10):c.1372C>T (p.Pro458Ser)	ADCY10, DCAF6 (P305S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317666	NM_001198956.2(DCAF6):c.1270A>C (p.Thr424Pro)	DCAF6 (T277P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314945	NM_018417.6(ADCY10):c.448G>A (p.Gly150Ser)	ADCY10, DCAF6 (G58S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312883	NM_001198956.2(DCAF6):c.1315T>C (p.Ser439Pro)	DCAF6 (S408P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296104	NM_018417.6(ADCY10):c.801G>T (p.Lys267Asn)	ADCY10, DCAF6 (K175N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294780	NM_001198956.2(DCAF6):c.2233A>G (p.Arg745Gly)	DCAF6 (R521G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293772	NM_001198956.2(DCAF6):c.1891G>C (p.Val631Leu)	DCAF6 (V407L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293694	NM_001198956.2(DCAF6):c.472C>G (p.Leu158Val)	DCAF6, LOC126805909 (L127V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290824	NM_001143674.4(MPC2):c.31G>C (p.Ala11Pro)	DCAF6, MPC2 (A11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288209	NM_001198956.2(DCAF6):c.155G>A (p.Gly52Asp)	DCAF6 (G52D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2279972	NM_001198956.2(DCAF6):c.1600G>A (p.Glu534Lys)	DCAF6 (E503K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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