ClinVar for Gene (Select 7074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177315	NM_001353694.2(TIAM1):c.958A>G (p.Thr320Ala)	TIAM1 (T320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177314	NM_001353694.2(TIAM1):c.784T>C (p.Ser262Pro)	TIAM1 (S262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177313	NM_001353694.2(TIAM1):c.661C>T (p.Arg221Trp)	TIAM1 (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177312	NM_001353694.2(TIAM1):c.4444C>G (p.Arg1482Gly)	TIAM1 (R1457G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177311	NM_001353694.2(TIAM1):c.4384G>A (p.Val1462Ile)	TIAM1 (V1462I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177309	NM_001353694.2(TIAM1):c.4299C>G (p.Ser1433Arg)	TIAM1 (S1408R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177308	NM_001353694.2(TIAM1):c.4289C>T (p.Pro1430Leu)	TIAM1 (P1430L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177307	NM_001353694.2(TIAM1):c.3799C>A (p.Leu1267Met)	TIAM1 (L275M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177306	NM_001353694.2(TIAM1):c.2836G>A (p.Gly946Ser)	TIAM1 (G946S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177304	NM_001353694.2(TIAM1):c.2336C>T (p.Thr779Met)	TIAM1 (T754M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177303	NM_001353694.2(TIAM1):c.2266T>G (p.Cys756Gly)	TIAM1 (C756G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177302	NM_001353694.2(TIAM1):c.2203G>C (p.Val735Leu)	TIAM1 (V735L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177301	NM_001353694.2(TIAM1):c.2126G>A (p.Arg709Gln)	TIAM1 (R709Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177300	NM_001353694.2(TIAM1):c.2114A>T (p.Lys705Met)	TIAM1 (K705M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177299	NM_001353694.2(TIAM1):c.2006G>A (p.Arg669His)	TIAM1 (R669H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177298	NM_001353694.2(TIAM1):c.154T>A (p.Ser52Thr)	TIAM1 (S52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177297	NM_001353694.2(TIAM1):c.1445G>A (p.Arg482Lys)	TIAM1 (R482K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177296	NM_001353694.2(TIAM1):c.121C>T (p.His41Tyr)	TIAM1 (H41Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177295	NM_001353694.2(TIAM1):c.11C>T (p.Ala4Val)	TIAM1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069007	NM_001353694.2(TIAM1):c.1412-5C>T	TIAM1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3069006	NM_001353694.2(TIAM1):c.2707G>A (p.Ala903Thr)	TIAM1 (A878T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065611	NM_001353694.2(TIAM1):c.2357C>T (p.Thr786Ile)	TIAM1 (T761I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3060489	NM_001353694.2(TIAM1):c.739G>A (p.Gly247Arg)	TIAM1 (G247R)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 3060315	NM_001353694.2(TIAM1):c.740G>T (p.Gly247Val)	TIAM1 (G247V)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 3059392	NM_001353694.2(TIAM1):c.4046-3T>C	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GBenign
Select item 3059045	NM_001353694.2(TIAM1):c.4431T>C (p.Gly1477=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3056556	NM_001353694.2(TIAM1):c.1920C>T (p.Leu640=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3056099	NM_001353694.2(TIAM1):c.2532G>C (p.Gln844His)	TIAM1 (Q819H +1 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 3055610	NM_001353694.2(TIAM1):c.2389-8dup	TIAM1	Duplication (intron variant)	TIAM1-related disorder	GBenign
Select item 3055045	NM_001353694.2(TIAM1):c.3232C>G (p.Gln1078Glu)	TIAM1 (Q1053E +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GLikely benign
Select item 3054150	NM_001353694.2(TIAM1):c.1643C>G (p.Thr548Ser)	TIAM1 (T548S)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GUncertain significance
Select item 3052970	NM_001353694.2(TIAM1):c.3241-10T>C	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GLikely benign
Select item 3052704	NM_001353694.2(TIAM1):c.246A>G (p.Leu82=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3052185	NM_001353694.2(TIAM1):c.87C>T (p.Ser29=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3051791	NM_001353694.2(TIAM1):c.334G>A (p.Val112Ile)	TIAM1 (V112I)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GLikely benign
Select item 3051057	NM_001353694.2(TIAM1):c.3153G>A (p.Thr1051=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3049787	NM_001353694.2(TIAM1):c.3843G>T (p.Ser1281=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3049146	NM_001353694.2(TIAM1):c.2218-7G>A	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GLikely benign
Select item 3047288	NM_001353694.2(TIAM1):c.1287C>T (p.Ala429=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3044926	NM_001353694.2(TIAM1):c.3943-8_3943-6del	TIAM1	Microsatellite (intron variant)	TIAM1-related disorder	GLikely benign
Select item 3044122	NM_001353694.2(TIAM1):c.330C>T (p.Pro110=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3043893	NM_001353694.2(TIAM1):c.3084G>A (p.Gln1028=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3043000	NM_001353694.2(TIAM1):c.4290G>A (p.Pro1430=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3042723	NM_001353694.2(TIAM1):c.3655+9C>A	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GLikely benign
Select item 3042023	NM_001353694.2(TIAM1):c.4406A>G (p.Lys1469Arg)	TIAM1 (K1444R +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 3040647	NM_001353694.2(TIAM1):c.2298A>G (p.Pro766=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3040578	NM_001353694.2(TIAM1):c.3843G>A (p.Ser1281=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3040290	NM_001353694.2(TIAM1):c.2844C>T (p.Ala948=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3040272	NM_001353694.2(TIAM1):c.624C>T (p.Cys208=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3039997	NM_001353694.2(TIAM1):c.1941G>C (p.Thr647=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3039933	NM_001353694.2(TIAM1):c.1611C>T (p.Asn537=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3039364	NM_001353694.2(TIAM1):c.2784C>T (p.Pro928=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3038669	NM_001353694.2(TIAM1):c.3936G>A (p.Lys1312=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3038441	NM_001353694.2(TIAM1):c.3438C>T (p.Cys1146=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3038397	NM_001353694.2(TIAM1):c.3068A>T (p.Asp1023Val)	TIAM1 (D1023V +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 3037692	NM_001353694.2(TIAM1):c.2904C>T (p.Ser968=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3035663	NM_001353694.2(TIAM1):c.3816C>T (p.Thr1272=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3035279	NM_001353694.2(TIAM1):c.132G>A (p.Ser44=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3034617	NM_001353694.2(TIAM1):c.4705G>A (p.Ala1569Thr)	TIAM1 (A1544T +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GLikely benign
Select item 3034532	NM_001353694.2(TIAM1):c.3020G>A (p.Arg1007His)	TIAM1 (R1007H +2 more)	Single nucleotide variant (missense variant +1 more)	TIAM1-related disorder	GLikely benign
Select item 3034467	NM_001353694.2(TIAM1):c.4182G>A (p.Leu1394=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3033147	NM_001353694.2(TIAM1):c.123C>T (p.His41=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 2685661	GRCh37/hg19 21q22.11(chr21:32528117-32806507)x1	TIAM1	Copy number loss	not provided	GUncertain significance
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	ADAMTS1, ADAMTS5 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2663679	NM_001353694.2(TIAM1):c.610G>A (p.Glu204Lys)	TIAM1 (E204K)	Single nucleotide variant (missense variant)	TIAM1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2662579	NM_001353694.2(TIAM1):c.1075C>T (p.Pro359Ser)	TIAM1 (P359S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652584	NM_001353694.2(TIAM1):c.326C>T (p.Thr109Ile)	TIAM1 (T109I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652583	NM_001353694.2(TIAM1):c.3387G>A (p.Gly1129=)	TIAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652582	NM_001353694.2(TIAM1):c.4306+20G>A	TIAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2633223	NM_001353694.2(TIAM1):c.1539dup (p.Val514fs)	TIAM1 (V514fs)	Duplication (frameshift variant)	TIAM1-related disorder	GUncertain significance
Select item 2632927	NM_001353694.2(TIAM1):c.4425dup (p.Gly1476fs)	TIAM1 (G1451fs +3 more)	Duplication (frameshift variant)	TIAM1-related disorder	GUncertain significance
Select item 2616204	NM_001353694.2(TIAM1):c.1484T>C (p.Val495Ala)	TIAM1 (V495A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610986	NM_001353694.2(TIAM1):c.320C>G (p.Ser107Cys)	TIAM1 (S107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610985	NM_001353694.2(TIAM1):c.1771G>A (p.Val591Ile)	TIAM1 (V591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609047	NM_001353694.2(TIAM1):c.2609T>C (p.Ile870Thr)	TIAM1 (I870T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607570	NM_001353694.2(TIAM1):c.4582C>A (p.Leu1528Ile)	TIAM1 (L536I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602474	NM_001353694.2(TIAM1):c.4042G>A (p.Ala1348Thr)	TIAM1 (A381T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590382	NM_001353694.2(TIAM1):c.488C>T (p.Ala163Val)	TIAM1 (A163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574495	NM_001353694.2(TIAM1):c.2593G>A (p.Val865Met)	TIAM1 (V840M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2551879	NM_001353694.2(TIAM1):c.3613G>T (p.Ala1205Ser)	TIAM1 (A213S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551060	NM_001353694.2(TIAM1):c.2047T>C (p.Ser683Pro)	TIAM1 (S683P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535601	NM_001353694.2(TIAM1):c.2828G>A (p.Arg943Gln)	TIAM1 (R943Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526262	NM_001353694.2(TIAM1):c.2422C>T (p.Arg808Cys)	TIAM1 (R783C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524394	NM_001353694.2(TIAM1):c.1441G>A (p.Gly481Ser)	TIAM1 (G481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513558	NM_001353694.2(TIAM1):c.2668A>C (p.Lys890Gln)	TIAM1 (K865Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509650	NM_001353694.2(TIAM1):c.3029A>C (p.His1010Pro)	TIAM1 (H43P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2492538	NM_001353694.2(TIAM1):c.3995G>A (p.Arg1332Gln)	TIAM1 (R1332Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487623	NM_001353694.2(TIAM1):c.3626C>T (p.Ala1209Val)	TIAM1 (A1184V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485888	NM_001353694.2(TIAM1):c.1046G>A (p.Arg349Gln)	TIAM1 (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482439	NM_001353694.2(TIAM1):c.1051A>G (p.Asn351Asp)	TIAM1 (N351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473716	NM_001353694.2(TIAM1):c.2344C>T (p.Arg782Trp)	TIAM1 (R757W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473205	NM_001353694.2(TIAM1):c.1633G>A (p.Ala545Thr)	TIAM1 (A545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470710	NM_001353694.2(TIAM1):c.746C>T (p.Pro249Leu)	TIAM1 (P249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467722	NM_001353694.2(TIAM1):c.1143G>C (p.Gln381His)	TIAM1 (Q381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461424	NM_001353694.2(TIAM1):c.333C>A (p.Ser111Arg)	TIAM1 (S111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429067	NM_001353694.2(TIAM1):c.1524C>A (p.His508Gln)	TIAM1 (H508Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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