IQGAP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 2363072	NM_178229.5(IQGAP3):c.4889G>A (p.Arg1630Gln)	IQGAP3 (R1630Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110652	NM_178229.5(IQGAP3):c.4876A>G (p.Lys1626Glu)	IQGAP3 (K1626E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110651	NM_178229.5(IQGAP3):c.4856T>C (p.Leu1619Pro)	IQGAP3 (L1619P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110650	NM_178229.5(IQGAP3):c.4841A>T (p.Lys1614Ile)	IQGAP3 (K1614I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244671	NM_178229.5(IQGAP3):c.4835A>T (p.Lys1612Met)	IQGAP3 (K1612M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286431	NM_178229.5(IQGAP3):c.4802A>G (p.Tyr1601Cys)	IQGAP3 (Y1601C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334675	NM_178229.5(IQGAP3):c.4762C>T (p.Arg1588Ter)	IQGAP3 (R1588*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2371694	NM_178229.5(IQGAP3):c.4756A>G (p.Met1586Val)	IQGAP3 (M1586V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508248	NM_178229.5(IQGAP3):c.4703C>T (p.Pro1568Leu)	IQGAP3 (P1568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110649	NM_178229.5(IQGAP3):c.4700C>T (p.Thr1567Met)	IQGAP3 (T1567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110648	NM_178229.5(IQGAP3):c.4667C>A (p.Ala1556Asp)	IQGAP3 (A1556D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495769	NM_178229.5(IQGAP3):c.4666G>C (p.Ala1556Pro)	IQGAP3 (A1556P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286429	NM_178229.5(IQGAP3):c.4660C>T (p.Leu1554Phe)	IQGAP3 (L1554F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2817288	NM_178229.5(IQGAP3):c.4644G>C (p.Leu1548Phe)	IQGAP3 (L1548F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286438	NM_178229.5(IQGAP3):c.4589A>G (p.Lys1530Arg)	IQGAP3 (K1530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034682	NM_178229.5(IQGAP3):c.4563C>T (p.Pro1521=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2510250	NM_178229.5(IQGAP3):c.4537C>T (p.Arg1513Trp)	IQGAP3 (R1513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313981	NM_178229.5(IQGAP3):c.4535T>C (p.Ile1512Thr)	IQGAP3 (I1512T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291593	NM_178229.5(IQGAP3):c.4514G>A (p.Gly1505Asp)	IQGAP3 (G1505D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110647	NM_178229.5(IQGAP3):c.4511A>T (p.Gln1504Leu)	IQGAP3 (Q1504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391655	NM_178229.5(IQGAP3):c.4502A>G (p.Tyr1501Cys)	IQGAP3 (Y1501C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250503	NM_178229.5(IQGAP3):c.4471T>G (p.Leu1491Val)	IQGAP3 (L1491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110646	NM_178229.5(IQGAP3):c.4411C>T (p.Arg1471Cys)	IQGAP3 (R1471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639451	NM_178229.5(IQGAP3):c.4405-6C>T	IQGAP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2618718	NM_178229.5(IQGAP3):c.4393G>A (p.Glu1465Lys)	IQGAP3 (E1465K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038988	NM_178229.5(IQGAP3):c.4383G>A (p.Gly1461=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 3286428	NM_178229.5(IQGAP3):c.4367G>C (p.Arg1456Thr)	IQGAP3 (R1456T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110645	NM_178229.5(IQGAP3):c.4364C>A (p.Ala1455Asp)	IQGAP3 (A1455D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400323	NM_178229.5(IQGAP3):c.4363G>A (p.Ala1455Thr)	IQGAP3 (A1455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343808	NM_178229.5(IQGAP3):c.4337G>A (p.Arg1446Gln)	IQGAP3 (R1446Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042046	NM_178229.5(IQGAP3):c.4334G>A (p.Arg1445His)	IQGAP3 (R1445H)	Single nucleotide variant (missense variant)	IQGAP3-related disorder	GBenign
Select item 2401825	NM_178229.5(IQGAP3):c.4318G>A (p.Val1440Ile)	IQGAP3 (V1440I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110644	NM_178229.5(IQGAP3):c.4312C>T (p.Arg1438Trp)	IQGAP3 (R1438W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229719	NM_178229.5(IQGAP3):c.4294C>T (p.Pro1432Ser)	IQGAP3 (P1432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110643	NM_178229.5(IQGAP3):c.4283A>C (p.His1428Pro)	IQGAP3 (H1428P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044968	NM_178229.5(IQGAP3):c.4268G>A (p.Arg1423His)	IQGAP3 (R1423H)	Single nucleotide variant (missense variant)	IQGAP3-related disorder	GLikely benign
Select item 3051289	NM_178229.5(IQGAP3):c.4248G>A (p.Pro1416=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2351504	NM_178229.5(IQGAP3):c.4247C>T (p.Pro1416Leu)	IQGAP3 (P1416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601926	NM_178229.5(IQGAP3):c.4229C>T (p.Ala1410Val)	IQGAP3 (A1410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363327	NM_178229.5(IQGAP3):c.4223G>A (p.Arg1408His)	IQGAP3 (R1408H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3110642	NM_178229.5(IQGAP3):c.4220G>A (p.Arg1407Gln)	IQGAP3 (R1407Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639452	NM_178229.5(IQGAP3):c.4205A>G (p.Lys1402Arg)	IQGAP3 (K1402R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3041639	NM_178229.5(IQGAP3):c.4122C>T (p.Ala1374=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GBenign
Select item 3286425	NM_178229.5(IQGAP3):c.4088G>A (p.Arg1363His)	IQGAP3 (R1363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257950	NM_178229.5(IQGAP3):c.4054G>A (p.Gly1352Arg)	IQGAP3 (G1352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741539	NM_178229.5(IQGAP3):c.4035G>A (p.Thr1345=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055445	NM_178229.5(IQGAP3):c.4005G>A (p.Thr1335=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GBenign
Select item 3110641	NM_178229.5(IQGAP3):c.3995A>T (p.Asp1332Val)	IQGAP3 (D1332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348582	NM_178229.5(IQGAP3):c.3988G>A (p.Ala1330Thr)	IQGAP3 (A1330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034800	NM_178229.5(IQGAP3):c.3987C>T (p.Ile1329=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 3056368	NM_178229.5(IQGAP3):c.3976+5G>A	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related disorder	GBenign
Select item 3110640	NM_178229.5(IQGAP3):c.3965C>G (p.Pro1322Arg)	IQGAP3 (P1322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613820	NM_178229.5(IQGAP3):c.3923T>C (p.Leu1308Pro)	IQGAP3 (L1308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639453	NM_178229.5(IQGAP3):c.3906T>C (p.Pro1302=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302023	NM_178229.5(IQGAP3):c.3889C>A (p.Gln1297Lys)	IQGAP3 (Q1297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110639	NM_178229.5(IQGAP3):c.3878T>C (p.Leu1293Ser)	IQGAP3 (L1293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057904	NM_178229.5(IQGAP3):c.3873+8G>T	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related disorder	GLikely benign
Select item 3033216	NM_178229.5(IQGAP3):c.3846C>T (p.Thr1282=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2475192	NM_178229.5(IQGAP3):c.3836T>G (p.Val1279Gly)	IQGAP3 (V1279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040922	NM_178229.5(IQGAP3):c.3798C>T (p.Asp1266=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2607617	NM_178229.5(IQGAP3):c.3747C>A (p.Phe1249Leu)	IQGAP3 (F1249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616451	NM_178229.5(IQGAP3):c.3730C>T (p.Leu1244Phe)	IQGAP3 (L1244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340081	NM_178229.5(IQGAP3):c.3698G>T (p.Arg1233Leu)	IQGAP3 (R1233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040560	NM_178229.5(IQGAP3):c.3663T>C (p.Ala1221=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GBenign
Select item 2233633	NM_178229.5(IQGAP3):c.3608C>G (p.Ala1203Gly)	IQGAP3 (A1203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110638	NM_178229.5(IQGAP3):c.3607G>A (p.Ala1203Thr)	IQGAP3 (A1203T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531631	NM_178229.5(IQGAP3):c.3577G>A (p.Val1193Met)	IQGAP3 (V1193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035396	NM_178229.5(IQGAP3):c.3564C>T (p.Asp1188=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2388659	NM_178229.5(IQGAP3):c.3533G>A (p.Arg1178His)	IQGAP3 (R1178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034730	NM_178229.5(IQGAP3):c.3507+5G>A	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related disorder	GLikely benign
Select item 3058742	NM_178229.5(IQGAP3):c.3483C>T (p.Asp1161=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2601925	NM_178229.5(IQGAP3):c.3437A>C (p.Tyr1146Ser)	IQGAP3 (Y1146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689254	NM_178229.5(IQGAP3):c.3436T>C (p.Tyr1146His)	IQGAP3 (Y1146H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694497	NM_178229.5(IQGAP3):c.3422+6T>A	IQGAP3	Single nucleotide variant (intron variant)	Motor and sensory neuropathy	GLikely pathogenic
Select item 2549352	NM_178229.5(IQGAP3):c.3407C>T (p.Ser1136Phe)	IQGAP3 (S1136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286424	NM_178229.5(IQGAP3):c.3382A>G (p.Lys1128Glu)	IQGAP3 (K1128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059556	NM_178229.5(IQGAP3):c.3370G>A (p.Ala1124Thr)	IQGAP3 (A1124T)	Single nucleotide variant (missense variant)	IQGAP3-related disorder	GBenign
Select item 2613748	NM_178229.5(IQGAP3):c.3359G>T (p.Arg1120Leu)	IQGAP3 (R1120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110635	NM_178229.5(IQGAP3):c.3174G>C (p.Lys1058Asn)	IQGAP3 (K1058N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110634	NM_178229.5(IQGAP3):c.3140G>A (p.Arg1047Gln)	IQGAP3 (R1047Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204151	NM_178229.5(IQGAP3):c.3139C>T (p.Arg1047Trp)	IQGAP3 (R1047W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339887	NM_178229.5(IQGAP3):c.3080A>C (p.Asp1027Ala)	IQGAP3 (D1027A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512406	NM_178229.5(IQGAP3):c.3002G>A (p.Arg1001Gln)	IQGAP3 (R1001Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224320	NM_178229.5(IQGAP3):c.2999G>A (p.Arg1000His)	IQGAP3 (R1000H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041996	NM_178229.5(IQGAP3):c.2907C>T (p.Tyr969=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related disorder	GLikely benign
Select item 2305986	NM_178229.5(IQGAP3):c.2817G>C (p.Gln939His)	IQGAP3 (Q939H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243970	NM_178229.5(IQGAP3):c.2726G>A (p.Arg909Gln)	IQGAP3 (R909Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521163	NM_178229.5(IQGAP3):c.2564G>A (p.Arg855His)	IQGAP3 (R855H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555811	NM_178229.5(IQGAP3):c.2563C>G (p.Arg855Gly)	IQGAP3 (R855G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329477	NM_178229.5(IQGAP3):c.2563C>A (p.Arg855Ser)	IQGAP3 (R855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524906	NM_178229.5(IQGAP3):c.2534A>G (p.His845Arg)	IQGAP3 (H845R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110633	NM_178229.5(IQGAP3):c.2467T>G (p.Ser823Ala)	IQGAP3 (S823A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327358	NM_178229.5(IQGAP3):c.2443C>T (p.His815Tyr)	IQGAP3 (H815Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397180	NM_178229.5(IQGAP3):c.2420G>A (p.Arg807Gln)	IQGAP3 (R807Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286430	NM_178229.5(IQGAP3):c.2377G>A (p.Ala793Thr)	IQGAP3 (A793T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689255	NM_178229.5(IQGAP3):c.2331del (p.Lys778fs)	IQGAP3 (K778fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2589819	NM_178229.5(IQGAP3):c.2323A>G (p.Arg775Gly)	IQGAP3 (R775G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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