ClinVar for Gene (Select 26230) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3177351	NM_012454.4(TIAM2):c.850G>A (p.Gly284Ser)	TIAM2 (G284S)	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 3177349	NM_012454.4(TIAM2):c.752A>G (p.Asp251Gly)	TIAM2 (D251G)	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 3177347	NM_012454.4(TIAM2):c.5095G>A (p.Gly1699Arg)	TFB1M, TIAM2 (G1699R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177346	NM_012454.4(TIAM2):c.4888G>A (p.Gly1630Arg)	TFB1M, TIAM2 (G1630R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177345	NM_012454.4(TIAM2):c.4844C>T (p.Ser1615Leu)	TFB1M, TIAM2 (S540L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177344	NM_012454.4(TIAM2):c.4690G>C (p.Glu1564Gln)	TFB1M, TIAM2 (E489Q +1 more)	Single nucleotide variant (missense variant +1 more)	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 3177342	NM_012454.4(TIAM2):c.4557C>A (p.Asp1519Glu)	TFB1M, TIAM2 (D1519E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177341	NM_012454.4(TIAM2):c.4438A>C (p.Lys1480Gln)	TFB1M, TIAM2 (K1480Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177340	NM_012454.4(TIAM2):c.4423C>T (p.Arg1475Cys)	TFB1M, TIAM2 (R400C +1 more)	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 3177337	NM_012454.4(TIAM2):c.3721C>G (p.Leu1241Val)	TFB1M, TIAM2 (L166V +1 more)	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 3177335	NM_012454.4(TIAM2):c.3450G>A (p.Met1150Ile)	TFB1M, TIAM2 (M1150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177334	NM_012454.4(TIAM2):c.3398C>T (p.Thr1133Ile)	TFB1M, TIAM2 (T1133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177333	NM_012454.4(TIAM2):c.3350A>C (p.Asp1117Ala)	TFB1M, TIAM2 (D42A +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
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 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 3177329	NM_012454.4(TIAM2):c.2928C>A (p.Asp976Glu)	TIAM2 (D976E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3177326	NM_012454.4(TIAM2):c.2686A>G (p.Thr896Ala)	TIAM2 (T896A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3177324	NM_012454.4(TIAM2):c.2365G>A (p.Asp789Asn)	TIAM2 (D789N)	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 3177322	NM_012454.4(TIAM2):c.1881T>G (p.His627Gln)	TIAM2 (H627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3177320	NM_012454.4(TIAM2):c.1166G>A (p.Ser389Asn)	TIAM2 (S389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3177317	NM_012454.4(TIAM2):c.1082G>A (p.Arg361Gln)	TIAM2 (R361Q)	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 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3025978	NM_012454.4(TIAM2):c.4314-8C>G	TFB1M, TIAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657048	NM_012454.4(TIAM2):c.2925G>C (p.Pro975=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2657046	NM_012454.4(TIAM2):c.2754G>A (p.Arg918=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657045	NM_012454.4(TIAM2):c.2268G>A (p.Gln756=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657044	NM_012454.4(TIAM2):c.1518G>A (p.Val506=)	TIAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2618931	NM_012454.4(TIAM2):c.3860C>T (p.Ala1287Val)	TFB1M, TIAM2 (A1287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608380	NM_012454.4(TIAM2):c.4873C>T (p.Pro1625Ser)	TFB1M, TIAM2 (P550S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2598603	NM_012454.4(TIAM2):c.1112C>T (p.Ala371Val)	TIAM2 (A371V)	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 2592137	NM_012454.4(TIAM2):c.3935G>A (p.Ser1312Asn)	TFB1M, TIAM2 (S237N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2562769	NM_012454.4(TIAM2):c.2242C>T (p.Arg748Trp)	TIAM2 (R748W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532516	NM_012454.4(TIAM2):c.4375A>T (p.Arg1459Trp)	TFB1M, TIAM2 (R1459W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531926	NM_012454.4(TIAM2):c.4150A>G (p.Thr1384Ala)	TFB1M, TIAM2 (T309A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2518317	NM_012454.4(TIAM2):c.1447G>A (p.Ala483Thr)	TIAM2 (A483T)	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 2515168	NM_012454.4(TIAM2):c.1343C>T (p.Ala448Val)	TIAM2 (A448V)	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 2510267	NM_012454.4(TIAM2):c.4196C>T (p.Ala1399Val)	TFB1M, TIAM2 (A1399V +1 more)	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 2491360	NM_012454.4(TIAM2):c.1096T>C (p.Phe366Leu)	TIAM2 (F366L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2472156	NM_012454.4(TIAM2):c.1081C>T (p.Arg361Trp)	TIAM2 (R361W)	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 2465611	NM_012454.4(TIAM2):c.2300C>T (p.Ser767Leu)	TIAM2 (S767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463928	NM_012454.4(TIAM2):c.3992C>T (p.Thr1331Met)	TFB1M, TIAM2 (T256M +1 more)	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 2458047	NM_012454.4(TIAM2):c.701G>A (p.Arg234His)	TIAM2 (R234H)	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 2412550	NM_012454.4(TIAM2):c.341A>G (p.Asn114Ser)	TIAM2 (N114S)	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 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 2392949	NM_012454.4(TIAM2):c.2146G>A (p.Ala716Thr)	TIAM2 (A716T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2383110	NM_012454.4(TIAM2):c.811G>A (p.Gly271Ser)	TIAM2 (G271S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2377453	NM_012454.4(TIAM2):c.2860C>T (p.Leu954Phe)	TIAM2 (L954F)	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 2370534	NM_012454.4(TIAM2):c.692C>T (p.Thr231Met)	TIAM2 (T231M)	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 2360299	NM_012454.4(TIAM2):c.1165A>C (p.Ser389Arg)	TIAM2 (S389R)	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 2347599	NM_012454.4(TIAM2):c.4589G>A (p.Ser1530Asn)	TFB1M, TIAM2 (S455N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338054	NM_012454.4(TIAM2):c.3983T>C (p.Met1328Thr)	TFB1M, TIAM2 (M1328T +1 more)	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 2332549	NM_012454.4(TIAM2):c.1901G>A (p.Arg634Gln)	TIAM2 (R634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326368	NM_012454.4(TIAM2):c.4243A>G (p.Ile1415Val)	TFB1M, TIAM2 (I340V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312190	NM_012454.4(TIAM2):c.4319G>A (p.Ser1440Asn)	TFB1M, TIAM2 (S1440N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311700	NM_012454.4(TIAM2):c.4955C>T (p.Ala1652Val)	TFB1M, TIAM2 (A577V +1 more)	Single nucleotide variant (missense variant +1 more)	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 2306767	NM_012454.4(TIAM2):c.4393G>A (p.Glu1465Lys)	TFB1M, TIAM2 (E390K +1 more)	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 2304680	NM_012454.4(TIAM2):c.2770G>A (p.Val924Ile)	TIAM2 (V924I)	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 2297827	NM_012454.4(TIAM2):c.3161C>T (p.Thr1054Ile)	TIAM2 (T1054I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295835	NM_012454.4(TIAM2):c.4983T>A (p.Ser1661Arg)	TFB1M, TIAM2 (S1661R +1 more)	Single nucleotide variant (missense variant +1 more)	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 2284321	NM_012454.4(TIAM2):c.1086G>T (p.Lys362Asn)	TIAM2 (K362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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