ClinVar for Gene (Select 8826) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286404	NM_003870.4(IQGAP1):c.4169G>A (p.Arg1390His)	IQGAP1 (R1390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286403	NM_003870.4(IQGAP1):c.2407C>T (p.Arg803Cys)	IQGAP1 (R803C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286402	NM_003870.4(IQGAP1):c.922G>A (p.Ala308Thr)	IQGAP1 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286401	NM_003870.4(IQGAP1):c.3071G>A (p.Arg1024Gln)	IQGAP1 (R1024Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286400	NM_003870.4(IQGAP1):c.3563G>T (p.Gly1188Val)	IQGAP1 (G1188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286399	NM_003870.4(IQGAP1):c.3107C>T (p.Ser1036Leu)	IQGAP1 (S1036L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3110600	NM_003870.4(IQGAP1):c.646G>A (p.Ala216Thr)	IQGAP1 (A216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110599	NM_003870.4(IQGAP1):c.4442T>C (p.Leu1481Pro)	IQGAP1 (L1481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110598	NM_003870.4(IQGAP1):c.4431A>C (p.Lys1477Asn)	IQGAP1 (K1477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110597	NM_003870.4(IQGAP1):c.4346A>T (p.Asn1449Ile)	IQGAP1 (N1449I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110596	NM_003870.4(IQGAP1):c.4330G>A (p.Val1444Ile)	IQGAP1 (V1444I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110595	NM_003870.4(IQGAP1):c.4314G>A (p.Met1438Ile)	IQGAP1 (M1438I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110594	NM_003870.4(IQGAP1):c.3365T>G (p.Leu1122Arg)	IQGAP1 (L1122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110593	NM_003870.4(IQGAP1):c.2504A>G (p.His835Arg)	IQGAP1 (H835R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110592	NM_003870.4(IQGAP1):c.2297G>T (p.Arg766Leu)	IQGAP1 (R766L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110591	NM_003870.4(IQGAP1):c.2177A>T (p.Gln726Leu)	IQGAP1 (Q726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110590	NM_003870.4(IQGAP1):c.2101G>C (p.Glu701Gln)	IQGAP1 (E701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110589	NM_003870.4(IQGAP1):c.2087A>G (p.Tyr696Cys)	IQGAP1 (Y696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110588	NM_003870.4(IQGAP1):c.1463A>G (p.Asn488Ser)	IQGAP1 (N488S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110587	NM_003870.4(IQGAP1):c.1396G>A (p.Ala466Thr)	IQGAP1 (A466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110586	NM_003870.4(IQGAP1):c.11C>T (p.Ala4Val)	IQGAP1, LOC130057914 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110585	NM_003870.4(IQGAP1):c.1007G>A (p.Arg336Gln)	IQGAP1 (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044119	NM_003870.4(IQGAP1):c.3693G>A (p.Met1231Ile)	IQGAP1 (M1231I)	Single nucleotide variant (missense variant)	IQGAP1-related disorder	GLikely benign
Select item 3037226	NM_003870.4(IQGAP1):c.4460G>A (p.Arg1487Lys)	IQGAP1 (R1487K)	Single nucleotide variant (missense variant)	IQGAP1-related disorder	GLikely benign
Select item 2685533	GRCh37/hg19 15q26.1(chr15:90880679-91080606)x1	CRTC3, IQGAP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2645707	NM_003870.4(IQGAP1):c.4077G>A (p.Thr1359=)	IQGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645706	NM_003870.4(IQGAP1):c.3993C>T (p.Leu1331=)	IQGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630037	NM_003870.4(IQGAP1):c.4187T>A (p.Ile1396Asn)	IQGAP1 (I1396N)	Single nucleotide variant (missense variant)	IQGAP1-related disorder	GUncertain significance
Select item 2629166	NM_003870.4(IQGAP1):c.553A>G (p.Met185Val)	IQGAP1 (M185V)	Single nucleotide variant (missense variant)	IQGAP1-related disorder	GUncertain significance
Select item 2608830	NM_003870.4(IQGAP1):c.3682A>G (p.Ile1228Val)	IQGAP1 (I1228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605600	NM_003870.4(IQGAP1):c.4754T>G (p.Phe1585Cys)	IQGAP1 (F1585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598527	NM_003870.4(IQGAP1):c.2140G>T (p.Val714Leu)	IQGAP1 (V714L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597895	NM_003870.4(IQGAP1):c.40C>T (p.Arg14Trp)	IQGAP1, LOC130057914 (R14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592831	NM_003870.4(IQGAP1):c.1515G>C (p.Lys505Asn)	IQGAP1 (K505N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592034	NM_003870.4(IQGAP1):c.251T>A (p.Phe84Tyr)	IQGAP1 (F84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588454	NM_003870.4(IQGAP1):c.3694C>T (p.Leu1232Phe)	IQGAP1 (L1232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588453	NM_003870.4(IQGAP1):c.4055A>G (p.Asn1352Ser)	IQGAP1 (N1352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2566470	NM_003870.4(IQGAP1):c.415A>G (p.Ile139Val)	IQGAP1 (I139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545464	NM_003870.4(IQGAP1):c.4202G>C (p.Gly1401Ala)	IQGAP1 (G1401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542607	NM_003870.4(IQGAP1):c.115G>A (p.Val39Met)	IQGAP1 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542257	NM_003870.4(IQGAP1):c.4406T>C (p.Leu1469Pro)	IQGAP1 (L1469P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512892	NM_003870.4(IQGAP1):c.2189C>G (p.Ser730Cys)	IQGAP1 (S730C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512488	NM_003870.4(IQGAP1):c.2158C>T (p.Leu720Phe)	IQGAP1 (L720F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2495051	NM_003870.4(IQGAP1):c.2813C>A (p.Thr938Asn)	IQGAP1 (T938N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466916	NM_003870.4(IQGAP1):c.4966G>A (p.Gly1656Arg)	IQGAP1 (G1656R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465144	NM_003870.4(IQGAP1):c.3540G>T (p.Glu1180Asp)	IQGAP1 (E1180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2407500	NM_003870.4(IQGAP1):c.3091C>A (p.Gln1031Lys)	IQGAP1 (Q1031K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404929	NM_003870.4(IQGAP1):c.1100A>G (p.Gln367Arg)	IQGAP1 (Q367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386667	NM_003870.4(IQGAP1):c.3691A>G (p.Met1231Val)	IQGAP1 (M1231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374622	NM_003870.4(IQGAP1):c.934A>G (p.Ile312Val)	IQGAP1 (I312V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369607	NM_003870.4(IQGAP1):c.1168G>A (p.Ala390Thr)	IQGAP1 (A390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364236	NM_003870.4(IQGAP1):c.2207A>G (p.Tyr736Cys)	IQGAP1 (Y736C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363160	NM_003870.4(IQGAP1):c.2671A>C (p.Lys891Gln)	IQGAP1 (K891Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359629	NM_003870.4(IQGAP1):c.1059T>G (p.Asp353Glu)	IQGAP1 (D353E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354948	NM_003870.4(IQGAP1):c.1313G>A (p.Arg438Gln)	IQGAP1 (R438Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350057	NM_003870.4(IQGAP1):c.2408G>A (p.Arg803His)	IQGAP1 (R803H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336577	NM_003870.4(IQGAP1):c.2899G>A (p.Glu967Lys)	IQGAP1 (E967K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326971	NM_003870.4(IQGAP1):c.2264G>C (p.Arg755Pro)	IQGAP1 (R755P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326096	NM_003870.4(IQGAP1):c.4206G>T (p.Glu1402Asp)	IQGAP1 (E1402D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320630	NM_003870.4(IQGAP1):c.1412A>G (p.Asp471Gly)	IQGAP1 (D471G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309693	NM_003870.4(IQGAP1):c.2198C>G (p.Thr733Ser)	IQGAP1 (T733S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305194	NM_003870.4(IQGAP1):c.1470G>C (p.Glu490Asp)	IQGAP1 (E490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293647	NM_003870.4(IQGAP1):c.1475A>G (p.Glu492Gly)	IQGAP1 (E492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281843	NM_003870.4(IQGAP1):c.2498G>A (p.Arg833Gln)	IQGAP1 (R833Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276837	NM_003870.4(IQGAP1):c.1241C>A (p.Pro414His)	IQGAP1 (P414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262025	NM_003870.4(IQGAP1):c.2272G>A (p.Gly758Arg)	IQGAP1 (G758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257525	NM_003870.4(IQGAP1):c.106C>T (p.Arg36Cys)	IQGAP1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248579	NM_003870.4(IQGAP1):c.50A>G (p.Tyr17Cys)	IQGAP1, LOC130057914 (Y17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233757	NM_003870.4(IQGAP1):c.588G>A (p.Met196Ile)	IQGAP1 (M196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233217	NM_003870.4(IQGAP1):c.2594C>T (p.Pro865Leu)	IQGAP1 (P865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232745	NM_003870.4(IQGAP1):c.1184T>C (p.Ile395Thr)	IQGAP1 (I395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222815	NM_003870.4(IQGAP1):c.58G>A (p.Val20Ile)	IQGAP1 (V20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221964	NM_003870.4(IQGAP1):c.293G>A (p.Arg98Gln)	IQGAP1 (R98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205792	NM_003870.4(IQGAP1):c.2425G>C (p.Val809Leu)	IQGAP1 (V809L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1705032	NM_003870.4(IQGAP1):c.1367T>C (p.Met456Thr)	IQGAP1 (M456T)	Single nucleotide variant (missense variant)	IQGAP1-associated immune condition	GUncertain significance
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 805962	NM_003870.4(IQGAP1):c.650-14_650-13insA	IQGAP1	Insertion (intron variant)	CIC-rearranged sarcoma	Gnot provided
Select item 790154	NM_003870.4(IQGAP1):c.2785-4A>G	IQGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776944	NM_003870.4(IQGAP1):c.3978A>G (p.Glu1326=)	IQGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714664	NM_003870.4(IQGAP1):c.774C>T (p.Tyr258=)	IQGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712395	NM_003870.4(IQGAP1):c.781A>G (p.Ile261Val)	IQGAP1 (I261V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710079	NM_003870.4(IQGAP1):c.3880G>A (p.Val1294Ile)	IQGAP1 (V1294I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710078	NM_003870.4(IQGAP1):c.390+5C>T	IQGAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic

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