TIAM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 781015	NM_012454.4(TIAM2):c.21G>C (p.Gln7His)	TIAM2 (Q7H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177327	NM_012454.4(TIAM2):c.26C>T (p.Thr9Ile)	TIAM2 (T9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177338	NM_012454.4(TIAM2):c.37T>C (p.Ser13Pro)	TIAM2 (S13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224512	NM_012454.4(TIAM2):c.97C>T (p.Arg33Cys)	TIAM2 (R33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596520	NM_012454.4(TIAM2):c.213C>G (p.Asn71Lys)	TIAM2 (N71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412550	NM_012454.4(TIAM2):c.341A>G (p.Asn114Ser)	TIAM2 (N114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177336	NM_012454.4(TIAM2):c.362A>C (p.His121Pro)	TIAM2 (H121P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516954	NM_012454.4(TIAM2):c.415A>C (p.Asn139His)	TIAM2 (N139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307035	NM_012454.4(TIAM2):c.415A>G (p.Asn139Asp)	TIAM2 (N139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177343	NM_012454.4(TIAM2):c.467G>T (p.Arg156Leu)	TIAM2 (R156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455737	NM_012454.4(TIAM2):c.619G>C (p.Glu207Gln)	TIAM2 (E207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529532	NM_012454.4(TIAM2):c.632T>C (p.Val211Ala)	TIAM2 (V211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518926	NM_012454.4(TIAM2):c.658G>A (p.Ala220Thr)	TIAM2 (A220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177348	NM_012454.4(TIAM2):c.685T>A (p.Ser229Thr)	TIAM2 (S229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370534	NM_012454.4(TIAM2):c.692C>T (p.Thr231Met)	TIAM2 (T231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458047	NM_012454.4(TIAM2):c.701G>A (p.Arg234His)	TIAM2 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177349	NM_012454.4(TIAM2):c.752A>G (p.Asp251Gly)	TIAM2 (D251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304881	NM_012454.4(TIAM2):c.793G>C (p.Gly265Arg)	TIAM2 (G265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177350	NM_012454.4(TIAM2):c.794G>A (p.Gly265Asp)	TIAM2 (G265D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383110	NM_012454.4(TIAM2):c.811G>A (p.Gly271Ser)	TIAM2 (G271S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177351	NM_012454.4(TIAM2):c.850G>A (p.Gly284Ser)	TIAM2 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177352	NM_012454.4(TIAM2):c.893C>T (p.Ser298Phe)	TIAM2 (S298F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337537	NM_012454.4(TIAM2):c.928A>C (p.Ser310Arg)	TIAM2 (S310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237931	NM_012454.4(TIAM2):c.959A>C (p.Asp320Ala)	TIAM2 (D320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301910	NM_012454.4(TIAM2):c.992A>G (p.Asn331Ser)	TIAM2 (N331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177316	NM_012454.4(TIAM2):c.1005T>G (p.Phe335Leu)	TIAM2 (F335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709426	NM_012454.4(TIAM2):c.1015A>G (p.Ile339Val)	TIAM2 (I339V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2472156	NM_012454.4(TIAM2):c.1081C>T (p.Arg361Trp)	TIAM2 (R361W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177317	NM_012454.4(TIAM2):c.1082G>A (p.Arg361Gln)	TIAM2 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284321	NM_012454.4(TIAM2):c.1086G>T (p.Lys362Asn)	TIAM2 (K362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491360	NM_012454.4(TIAM2):c.1096T>C (p.Phe366Leu)	TIAM2 (F366L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776176	NM_012454.4(TIAM2):c.1107T>C (p.Asp369=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598603	NM_012454.4(TIAM2):c.1112C>T (p.Ala371Val)	TIAM2 (A371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776177	NM_012454.4(TIAM2):c.1119G>T (p.Lys373Asn)	TIAM2 (K373N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177319	NM_012454.4(TIAM2):c.1144C>T (p.Arg382Trp)	TIAM2 (R382W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352069	NM_012454.4(TIAM2):c.1149C>G (p.Ile383Met)	TIAM2 (I383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360299	NM_012454.4(TIAM2):c.1165A>C (p.Ser389Arg)	TIAM2 (S389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177320	NM_012454.4(TIAM2):c.1166G>A (p.Ser389Asn)	TIAM2 (S389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495383	NM_012454.4(TIAM2):c.1199C>T (p.Pro400Leu)	TIAM2 (P400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515168	NM_012454.4(TIAM2):c.1343C>T (p.Ala448Val)	TIAM2 (A448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290117	NM_012454.4(TIAM2):c.1354G>T (p.Asp452Tyr)	TIAM2 (D452Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233267	NM_012454.4(TIAM2):c.1425C>A (p.Asn475Lys)	TIAM2 (N475K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511801	NM_012454.4(TIAM2):c.1427T>C (p.Ile476Thr)	TIAM2 (I476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518317	NM_012454.4(TIAM2):c.1447G>A (p.Ala483Thr)	TIAM2 (A483T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760049	NM_012454.4(TIAM2):c.1449C>T (p.Ala483=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657044	NM_012454.4(TIAM2):c.1518G>A (p.Val506=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177321	NM_012454.4(TIAM2):c.1549C>T (p.Pro517Ser)	TIAM2 (P517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177322	NM_012454.4(TIAM2):c.1881T>G (p.His627Gln)	TIAM2 (H627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382773	NM_012454.4(TIAM2):c.1895C>T (p.Thr632Met)	TIAM2 (T632M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332549	NM_012454.4(TIAM2):c.1901G>A (p.Arg634Gln)	TIAM2 (R634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177323	NM_012454.4(TIAM2):c.1951A>T (p.Ser651Cys)	TIAM2 (S651C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278788	NM_012454.4(TIAM2):c.1996G>T (p.Asp666Tyr)	TIAM2 (D666Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392949	NM_012454.4(TIAM2):c.2146G>A (p.Ala716Thr)	TIAM2 (A716T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787308	NM_012454.4(TIAM2):c.2215-5A>C	TIAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2562769	NM_012454.4(TIAM2):c.2242C>T (p.Arg748Trp)	TIAM2 (R748W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657045	NM_012454.4(TIAM2):c.2268G>A (p.Gln756=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599693	NM_012454.4(TIAM2):c.2270G>A (p.Arg757Gln)	TIAM2 (R757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465611	NM_012454.4(TIAM2):c.2300C>T (p.Ser767Leu)	TIAM2 (S767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792061	NM_012454.4(TIAM2):c.2353A>G (p.Ile785Val)	TIAM2 (I785V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177324	NM_012454.4(TIAM2):c.2365G>A (p.Asp789Asn)	TIAM2 (D789N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388097	NM_012454.4(TIAM2):c.2365G>C (p.Asp789His)	TIAM2 (D789H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366154	NM_012454.4(TIAM2):c.2407C>A (p.Pro803Thr)	TIAM2 (P803T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459552	NM_012454.4(TIAM2):c.2640A>C (p.Glu880Asp)	TIAM2 (E880D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721053	NM_012454.4(TIAM2):c.2661T>C (p.Asn887=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177325	NM_012454.4(TIAM2):c.2668G>C (p.Asp890His)	TIAM2 (D890H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177326	NM_012454.4(TIAM2):c.2686A>G (p.Thr896Ala)	TIAM2 (T896A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210434	NM_012454.4(TIAM2):c.2723C>T (p.Ala908Val)	TIAM2 (A908V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781016	NM_012454.4(TIAM2):c.2738G>A (p.Arg913His)	TIAM2 (R913H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2478454	NM_012454.4(TIAM2):c.2741A>G (p.Gln914Arg)	TIAM2 (Q914R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657046	NM_012454.4(TIAM2):c.2754G>A (p.Arg918=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304680	NM_012454.4(TIAM2):c.2770G>A (p.Val924Ile)	TIAM2 (V924I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778272	NM_012454.4(TIAM2):c.2778C>T (p.Pro926=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377453	NM_012454.4(TIAM2):c.2860C>T (p.Leu954Phe)	TIAM2 (L954F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403663	NM_012454.4(TIAM2):c.2876C>T (p.Ala959Val)	TIAM2 (A959V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718283	NM_012454.4(TIAM2):c.2899G>A (p.Gly967Arg)	TIAM2 (G967R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657047	NM_012454.4(TIAM2):c.2924C>T (p.Pro975Leu)	TIAM2 (P975L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657048	NM_012454.4(TIAM2):c.2925G>C (p.Pro975=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177329	NM_012454.4(TIAM2):c.2928C>A (p.Asp976Glu)	TIAM2 (D976E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789753	NM_012454.4(TIAM2):c.2935G>A (p.Ala979Thr)	TIAM2 (A979T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297827	NM_012454.4(TIAM2):c.3161C>T (p.Thr1054Ile)	TIAM2 (T1054I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223442	NM_012454.4(TIAM2):c.3223G>A (p.Gly1075Ser)	TFB1M, TIAM2 (G1075S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3177330	NM_012454.4(TIAM2):c.3253C>T (p.Pro1085Ser)	TFB1M, TIAM2 (P1085S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397503	NM_012454.4(TIAM2):c.3257C>T (p.Pro1086Leu)	TFB1M, TIAM2 (P1086L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622555	NM_012454.4(TIAM2):c.3264G>T (p.Arg1088Ser)	TFB1M, TIAM2 (R1088S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778273	NM_012454.4(TIAM2):c.3265= (p.Ser1089=)	TFB1M, TIAM2 (P1089S)	Variation (no sequence alteration)	not provided	GBenign
Select item 3177331	NM_012454.4(TIAM2):c.3274C>T (p.Arg1092Cys)	TFB1M, TIAM2 (R17C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373731	NM_012454.4(TIAM2):c.3296G>A (p.Arg1099His)	TFB1M, TIAM2 (R24H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470893	NM_012454.4(TIAM2):c.3308T>G (p.Val1103Gly)	TFB1M, TIAM2 (V1103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177332	NM_012454.4(TIAM2):c.3343G>C (p.Val1115Leu)	TFB1M, TIAM2 (V1115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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