ClinVar for Gene (Select 128239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3059556	NM_178229.5(IQGAP3):c.3370G>A (p.Ala1124Thr)	IQGAP3 (A1124T)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GBenign
Select item 3058742	NM_178229.5(IQGAP3):c.3483C>T (p.Asp1161=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3058318	NM_178229.5(IQGAP3):c.975G>A (p.Gly325=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3057958	NM_178229.5(IQGAP3):c.1042-7C>G	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related condition	GLikely benign
Select item 3057904	NM_178229.5(IQGAP3):c.3873+8G>T	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related condition	GLikely benign
Select item 3056677	NM_178229.5(IQGAP3):c.1185C>T (p.Asp395=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GBenign
Select item 3056368	NM_178229.5(IQGAP3):c.3976+5G>A	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related condition	GBenign
Select item 3055968	NM_178229.5(IQGAP3):c.28T>C (p.Trp10Arg)	IQGAP3 (W10R)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GBenign
Select item 3055445	NM_178229.5(IQGAP3):c.4005G>A (p.Thr1335=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GBenign
Select item 3052397	NM_178229.5(IQGAP3):c.1288G>C (p.Gly430Arg)	IQGAP3 (G430R)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GLikely benign
Select item 3051289	NM_178229.5(IQGAP3):c.4248G>A (p.Pro1416=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3044968	NM_178229.5(IQGAP3):c.4268G>A (p.Arg1423His)	IQGAP3 (R1423H)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GLikely benign
Select item 3044170	NM_178229.5(IQGAP3):c.438-7T>C	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related condition	GLikely benign
Select item 3043495	NM_178229.5(IQGAP3):c.644A>G (p.Asn215Ser)	IQGAP3 (N215S)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GLikely benign
Select item 3042418	NM_178229.5(IQGAP3):c.1289G>A (p.Gly430Glu)	IQGAP3 (G430E)	Single nucleotide variant (missense variant)	IQGAP3-related condition +1 more	GLikely benign
Select item 3042046	NM_178229.5(IQGAP3):c.4334G>A (p.Arg1445His)	IQGAP3 (R1445H)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GBenign
Select item 3041996	NM_178229.5(IQGAP3):c.2907C>T (p.Tyr969=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3041639	NM_178229.5(IQGAP3):c.4122C>T (p.Ala1374=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GBenign
Select item 3041560	NM_178229.5(IQGAP3):c.1933G>A (p.Asp645Asn)	IQGAP3 (D645N)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GBenign
Select item 3040922	NM_178229.5(IQGAP3):c.3798C>T (p.Asp1266=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3040560	NM_178229.5(IQGAP3):c.3663T>C (p.Ala1221=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GBenign
Select item 3039668	NM_178229.5(IQGAP3):c.1148G>A (p.Arg383Gln)	IQGAP3 (R383Q)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GBenign
Select item 3039240	NM_178229.5(IQGAP3):c.792G>A (p.Arg264=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3038988	NM_178229.5(IQGAP3):c.4383G>A (p.Gly1461=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3037707	NM_178229.5(IQGAP3):c.528G>A (p.Ala176=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3035396	NM_178229.5(IQGAP3):c.3564C>T (p.Asp1188=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3034800	NM_178229.5(IQGAP3):c.3987C>T (p.Ile1329=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3034730	NM_178229.5(IQGAP3):c.3507+5G>A	IQGAP3	Single nucleotide variant (intron variant)	IQGAP3-related condition	GLikely benign
Select item 3034682	NM_178229.5(IQGAP3):c.4563C>T (p.Pro1521=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3033398	NM_178229.5(IQGAP3):c.258C>T (p.Tyr86=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
Select item 3033216	NM_178229.5(IQGAP3):c.3846C>T (p.Thr1282=)	IQGAP3	Single nucleotide variant (synonymous variant)	IQGAP3-related condition	GLikely benign
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 2689256	NM_178229.5(IQGAP3):c.970C>T (p.Arg324Ter)	IQGAP3 (R324*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2689255	NM_178229.5(IQGAP3):c.2331del (p.Lys778fs)	IQGAP3 (K778fs)	Deletion (frameshift variant)	not provided	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 2689253	NM_178229.5(IQGAP3):c.526G>C (p.Ala176Pro)	IQGAP3 (A176P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685699	GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1	GPATCH4, HAPLN2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2639454	NM_178229.5(IQGAP3):c.288T>C (p.Thr96=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639453	NM_178229.5(IQGAP3):c.3906T>C (p.Pro1302=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2639451	NM_178229.5(IQGAP3):c.4405-6C>T	IQGAP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2633330	NM_178229.5(IQGAP3):c.1132C>T (p.Leu378Phe)	IQGAP3 (L378F)	Single nucleotide variant (missense variant)	IQGAP3-related condition	GUncertain significance
Select item 2621125	NM_178229.5(IQGAP3):c.440T>C (p.Leu147Pro)	IQGAP3 (L147P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618718	NM_178229.5(IQGAP3):c.4393G>A (p.Glu1465Lys)	IQGAP3 (E1465K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616451	NM_178229.5(IQGAP3):c.3730C>T (p.Leu1244Phe)	IQGAP3 (L1244F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613820	NM_178229.5(IQGAP3):c.3923T>C (p.Leu1308Pro)	IQGAP3 (L1308P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613748	NM_178229.5(IQGAP3):c.3359G>T (p.Arg1120Leu)	IQGAP3 (R1120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613692	NM_178229.5(IQGAP3):c.1059G>C (p.Glu353Asp)	IQGAP3 (E353D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612387	NM_178229.5(IQGAP3):c.59A>C (p.Glu20Ala)	IQGAP3 (E20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607617	NM_178229.5(IQGAP3):c.3747C>A (p.Phe1249Leu)	IQGAP3 (F1249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601926	NM_178229.5(IQGAP3):c.4229C>T (p.Ala1410Val)	IQGAP3 (A1410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601925	NM_178229.5(IQGAP3):c.3437A>C (p.Tyr1146Ser)	IQGAP3 (Y1146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598694	NM_178229.5(IQGAP3):c.1595A>G (p.Asn532Ser)	IQGAP3 (N532S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589819	NM_178229.5(IQGAP3):c.2323A>G (p.Arg775Gly)	IQGAP3 (R775G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2568431	NM_178229.5(IQGAP3):c.2242C>G (p.Gln748Glu)	IQGAP3 (Q748E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555811	NM_178229.5(IQGAP3):c.2563C>G (p.Arg855Gly)	IQGAP3 (R855G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554976	NM_178229.5(IQGAP3):c.979A>T (p.Arg327Trp)	IQGAP3 (R327W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549352	NM_178229.5(IQGAP3):c.3407C>T (p.Ser1136Phe)	IQGAP3 (S1136F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531631	NM_178229.5(IQGAP3):c.3577G>A (p.Val1193Met)	IQGAP3 (V1193M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528545	NM_178229.5(IQGAP3):c.7A>G (p.Arg3Gly)	IQGAP3 (R3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2524906	NM_178229.5(IQGAP3):c.2534A>G (p.His845Arg)	IQGAP3 (H845R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521163	NM_178229.5(IQGAP3):c.2564G>A (p.Arg855His)	IQGAP3 (R855H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520959	NM_178229.5(IQGAP3):c.980G>A (p.Arg327Lys)	IQGAP3 (R327K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519141	NM_178229.5(IQGAP3):c.867C>G (p.Asn289Lys)	IQGAP3 (N289K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512406	NM_178229.5(IQGAP3):c.3002G>A (p.Arg1001Gln)	IQGAP3 (R1001Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510862	NM_178229.5(IQGAP3):c.1711G>T (p.Ala571Ser)	IQGAP3 (A571S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510250	NM_178229.5(IQGAP3):c.4537C>T (p.Arg1513Trp)	IQGAP3 (R1513W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508248	NM_178229.5(IQGAP3):c.4703C>T (p.Pro1568Leu)	IQGAP3 (P1568L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495769	NM_178229.5(IQGAP3):c.4666G>C (p.Ala1556Pro)	IQGAP3 (A1556P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490867	NM_178229.5(IQGAP3):c.2054T>C (p.Leu685Pro)	IQGAP3 (L685P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486763	NM_178229.5(IQGAP3):c.901G>A (p.Asp301Asn)	IQGAP3 (D301N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475192	NM_178229.5(IQGAP3):c.3836T>G (p.Val1279Gly)	IQGAP3 (V1279G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410253	NM_178229.5(IQGAP3):c.722G>A (p.Arg241Gln)	IQGAP3 (R241Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401825	NM_178229.5(IQGAP3):c.4318G>A (p.Val1440Ile)	IQGAP3 (V1440I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400323	NM_178229.5(IQGAP3):c.4363G>A (p.Ala1455Thr)	IQGAP3 (A1455T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397180	NM_178229.5(IQGAP3):c.2420G>A (p.Arg807Gln)	IQGAP3 (R807Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391677	NM_178229.5(IQGAP3):c.479A>G (p.Asp160Gly)	IQGAP3 (D160G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391655	NM_178229.5(IQGAP3):c.4502A>G (p.Tyr1501Cys)	IQGAP3 (Y1501C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388659	NM_178229.5(IQGAP3):c.3533G>A (p.Arg1178His)	IQGAP3 (R1178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382609	NM_178229.5(IQGAP3):c.1730C>T (p.Ala577Val)	IQGAP3 (A577V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379568	NM_178229.5(IQGAP3):c.1648C>T (p.Pro550Ser)	IQGAP3 (P550S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371694	NM_178229.5(IQGAP3):c.4756A>G (p.Met1586Val)	IQGAP3 (M1586V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363327	NM_178229.5(IQGAP3):c.4223G>A (p.Arg1408His)	IQGAP3 (R1408H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363072	NM_178229.5(IQGAP3):c.4889G>A (p.Arg1630Gln)	IQGAP3 (R1630Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351504	NM_178229.5(IQGAP3):c.4247C>T (p.Pro1416Leu)	IQGAP3 (P1416L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348582	NM_178229.5(IQGAP3):c.3988G>A (p.Ala1330Thr)	IQGAP3 (A1330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343808	NM_178229.5(IQGAP3):c.4337G>A (p.Arg1446Gln)	IQGAP3 (R1446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2340081	NM_178229.5(IQGAP3):c.3698G>T (p.Arg1233Leu)	IQGAP3 (R1233L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339887	NM_178229.5(IQGAP3):c.3080A>C (p.Asp1027Ala)	IQGAP3 (D1027A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329477	NM_178229.5(IQGAP3):c.2563C>A (p.Arg855Ser)	IQGAP3 (R855S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327358	NM_178229.5(IQGAP3):c.2443C>T (p.His815Tyr)	IQGAP3 (H815Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319241	NM_178229.5(IQGAP3):c.208A>C (p.Lys70Gln)	IQGAP3 (K70Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313981	NM_178229.5(IQGAP3):c.4535T>C (p.Ile1512Thr)	IQGAP3 (I1512T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305986	NM_178229.5(IQGAP3):c.2817G>C (p.Gln939His)	IQGAP3 (Q939H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302023	NM_178229.5(IQGAP3):c.3889C>A (p.Gln1297Lys)	IQGAP3 (Q1297K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291593	NM_178229.5(IQGAP3):c.4514G>A (p.Gly1505Asp)	IQGAP3 (G1505D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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