ClinVar for Gene (Select 100507679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296920	NM_001395414.1(MUC22):c.2959G>A (p.Ala987Thr)	MUC22 (A990T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296917	NM_001395414.1(MUC22):c.2264C>A (p.Thr755Asn)	MUC22 (T755N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296916	NM_001395414.1(MUC22):c.4532C>T (p.Thr1511Ile)	MUC22 (T1511I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296915	NM_001395414.1(MUC22):c.3269C>T (p.Ala1090Val)	MUC22 (A1093V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296914	NM_001395414.1(MUC22):c.701G>T (p.Gly234Val)	MUC22 (G234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296913	NM_001395414.1(MUC22):c.497C>T (p.Thr166Met)	MUC22 (T166M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296912	NM_001395414.1(MUC22):c.3854C>A (p.Thr1285Asn)	MUC22 (T1288N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296911	NM_001395414.1(MUC22):c.1705T>C (p.Ser569Pro)	MUC22 (S569P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296910	NM_001395414.1(MUC22):c.1747T>C (p.Ser583Pro)	MUC22 (S583P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296909	NM_001395414.1(MUC22):c.2582C>A (p.Ala861Glu)	MUC22 (A864E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296908	NM_001395414.1(MUC22):c.3793A>G (p.Thr1265Ala)	MUC22 (T1268A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296906	NM_001395414.1(MUC22):c.926T>C (p.Ile309Thr)	MUC22 (I309T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296905	NM_001395414.1(MUC22):c.4546A>G (p.Thr1516Ala)	MUC22 (T1519A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296904	NM_001395414.1(MUC22):c.257C>G (p.Ala86Gly)	MUC22 (A86G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296903	NM_001395414.1(MUC22):c.2774C>T (p.Thr925Ile)	MUC22 (T925I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296902	NM_001395414.1(MUC22):c.3962C>T (p.Thr1321Met)	MUC22 (T1324M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220569	NM_001395414.1(MUC22):c.977A>G (p.Glu326Gly)	MUC22 (E326G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220564	NM_001395414.1(MUC22):c.976G>A (p.Glu326Lys)	MUC22 (E326K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220543	NM_001395414.1(MUC22):c.895A>C (p.Thr299Pro)	MUC22 (T299P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220527	NM_001395414.1(MUC22):c.829A>G (p.Thr277Ala)	MUC22 (T277A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220510	NM_001395414.1(MUC22):c.524C>A (p.Thr175Asn)	MUC22 (T175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220507	NM_001395414.1(MUC22):c.5234A>G (p.Tyr1745Cys)	MUC22 (Y1745C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220503	NM_001395414.1(MUC22):c.5215G>A (p.Gly1739Arg)	MUC22 (G1742R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220481	NM_001395414.1(MUC22):c.4808T>C (p.Met1603Thr)	MUC22 (M1603T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220475	NM_001395414.1(MUC22):c.4739C>T (p.Thr1580Met)	MUC22 (T1593M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220470	NM_001395414.1(MUC22):c.4505G>C (p.Ser1502Thr)	MUC22 (S1502T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220467	NM_001395414.1(MUC22):c.4388C>A (p.Ser1463Tyr)	MUC22 (S1466Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220463	NM_001395414.1(MUC22):c.4319C>T (p.Thr1440Ile)	MUC22 (T1443I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220422	NM_001395414.1(MUC22):c.3986C>G (p.Ser1329Cys)	MUC22 (S1329C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220416	NM_001395414.1(MUC22):c.3947C>T (p.Thr1316Ile)	MUC22 (T1319I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220399	NM_001395414.1(MUC22):c.3845G>A (p.Gly1282Asp)	MUC22 (G1285D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220382	NM_001395414.1(MUC22):c.3619A>G (p.Thr1207Ala)	MUC22 (T1210A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220375	NM_001395414.1(MUC22):c.3470C>T (p.Thr1157Ile)	MUC22 (T1157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220366	NM_001395414.1(MUC22):c.3389C>T (p.Thr1130Ile)	MUC22 (T1130I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220361	NM_001395414.1(MUC22):c.3293C>A (p.Thr1098Asn)	MUC22 (T1101N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220354	NM_001395414.1(MUC22):c.3239C>A (p.Ala1080Glu)	MUC22 (A1080E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220345	NM_001395414.1(MUC22):c.2935A>T (p.Ile979Phe)	MUC22 (I979F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220315	NM_001395414.1(MUC22):c.2524G>A (p.Gly842Ser)	MUC22 (G842S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220288	NM_001395414.1(MUC22):c.2069C>T (p.Thr690Ile)	MUC22 (T690I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220268	NM_001395414.1(MUC22):c.1601A>G (p.Glu534Gly)	MUC22 (E534G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220235	NM_001395414.1(MUC22):c.1151C>G (p.Ser384Cys)	MUC22 (S384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220229	NM_001395414.1(MUC22):c.1117G>A (p.Gly373Ser)	MUC22 (G373S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220214	NM_001395414.1(MUC22):c.1009A>T (p.Thr337Ser)	MUC22 (T340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025244	NM_001395414.1(MUC22):c.1755A>C (p.Thr585=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025210	NM_001395414.1(MUC22):c.1869T>A (p.Ser623=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024769	NM_001395414.1(MUC22):c.1371T>C (p.Thr457=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673048	NM_001395414.1(MUC22):c.3351A>C (p.Thr1117=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673047	NM_001395414.1(MUC22):c.1890T>C (p.Thr630=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656387	NM_001395414.1(MUC22):c.3318T>C (p.Thr1106=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656386	NM_001395414.1(MUC22):c.1824C>G (p.Ala608=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656385	NM_001395414.1(MUC22):c.1770C>T (p.Thr590=)	MUC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656384	NM_001395414.1(MUC22):c.1609G>A (p.Ala537Thr)	MUC22 (A537T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656383	NM_001395414.1(MUC22):c.1355C>A (p.Ala452Glu)	MUC22 (A452E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656382	NM_001395414.1(MUC22):c.1157C>A (p.Thr386Asn)	MUC22 (T386N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622145	NM_001395414.1(MUC22):c.5135A>T (p.Asn1712Ile)	MUC22 (N1725I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622054	NM_001395414.1(MUC22):c.3989C>T (p.Thr1330Ile)	MUC22 (T1330I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620050	NM_001395414.1(MUC22):c.3725G>A (p.Gly1242Asp)	MUC22 (G1242D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603574	NM_001395414.1(MUC22):c.284C>A (p.Thr95Lys)	MUC22 (T95K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599799	NM_001395414.1(MUC22):c.3910G>C (p.Glu1304Gln)	MUC22 (E1304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598775	NM_001395414.1(MUC22):c.1633C>A (p.Pro545Thr)	MUC22 (P545T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597429	NM_001395414.1(MUC22):c.4901C>T (p.Pro1634Leu)	MUC22 (P1637L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590516	NM_001395414.1(MUC22):c.1072A>G (p.Thr358Ala)	MUC22 (T361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590254	NM_001395414.1(MUC22):c.4102G>A (p.Ala1368Thr)	MUC22 (A1368T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556017	NM_001395414.1(MUC22):c.4250C>G (p.Thr1417Arg)	MUC22 (T1417R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554089	NM_001395414.1(MUC22):c.641A>G (p.Glu214Gly)	MUC22 (E214G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552370	NM_001395414.1(MUC22):c.3962C>A (p.Thr1321Lys)	MUC22 (T1321K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551681	NM_001395414.1(MUC22):c.4076A>G (p.Tyr1359Cys)	MUC22 (Y1359C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546695	NM_001395414.1(MUC22):c.1015A>G (p.Thr339Ala)	MUC22 (T339A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541650	NM_001395414.1(MUC22):c.1186A>T (p.Thr396Ser)	MUC22 (T396S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535205	NM_001395414.1(MUC22):c.2074G>A (p.Gly692Ser)	MUC22 (G692S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532111	NM_001395414.1(MUC22):c.3056C>A (p.Thr1019Asn)	MUC22 (T1022N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522218	NM_001395414.1(MUC22):c.4958A>G (p.Lys1653Arg)	MUC22 (K1653R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518556	NM_001395414.1(MUC22):c.1463A>G (p.Lys488Arg)	MUC22 (K488R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516993	NM_001395414.1(MUC22):c.4199C>T (p.Thr1400Ile)	MUC22 (T1400I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514353	NM_001395414.1(MUC22):c.2800G>A (p.Glu934Lys)	MUC22 (E937K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514008	NM_001395414.1(MUC22):c.611A>G (p.Glu204Gly)	MUC22 (E204G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495898	NM_001395414.1(MUC22):c.743T>C (p.Ile248Thr)	MUC22 (I248T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493627	NM_001395414.1(MUC22):c.896C>T (p.Thr299Ile)	MUC22 (T302I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492169	NM_001395414.1(MUC22):c.3929C>A (p.Thr1310Asn)	MUC22 (T1310N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488592	NM_001395414.1(MUC22):c.2320G>A (p.Glu774Lys)	MUC22 (E774K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487297	NM_001395414.1(MUC22):c.4049C>T (p.Thr1350Ile)	MUC22 (T1350I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477524	NM_001395414.1(MUC22):c.1474G>T (p.Ala492Ser)	MUC22 (A495S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470603	NM_001395414.1(MUC22):c.4282A>G (p.Thr1428Ala)	MUC22 (T1428A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469056	NM_001395414.1(MUC22):c.5168T>G (p.Leu1723Arg)	MUC22 (L1736R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465187	NM_001395414.1(MUC22):c.877G>A (p.Ala293Thr)	MUC22 (A293T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465186	NM_001395414.1(MUC22):c.865A>G (p.Thr289Ala)	MUC22 (T289A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462964	NM_001395414.1(MUC22):c.385G>A (p.Val129Met)	MUC22 (V129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461602	NM_001395414.1(MUC22):c.2900C>T (p.Thr967Ile)	MUC22 (T970I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460479	NM_001395414.1(MUC22):c.4249A>G (p.Thr1417Ala)	MUC22 (T1420A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2408728	NM_001395414.1(MUC22):c.3989C>A (p.Thr1330Asn)	MUC22 (T1333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407719	NM_001395414.1(MUC22):c.2957C>G (p.Thr986Arg)	MUC22 (T989R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398954	NM_001395414.1(MUC22):c.2782G>A (p.Val928Ile)	MUC22 (V928I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398456	NM_001395414.1(MUC22):c.937T>A (p.Ser313Thr)	MUC22 (S313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398455	NM_001395414.1(MUC22):c.871T>A (p.Ser291Thr)	MUC22 (S291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398454	NM_001395414.1(MUC22):c.838A>T (p.Ile280Phe)	MUC22 (I280F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395521	NM_001395414.1(MUC22):c.239C>T (p.Thr80Ile)	MUC22 (T80I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394521	NM_001395414.1(MUC22):c.2000C>T (p.Thr667Ile)	MUC22 (T667I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393960	NM_001395414.1(MUC22):c.2540C>T (p.Thr847Ile)	MUC22 (T847I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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