All variants in the ARHGEF18 gene

Information The variants shown are described using the transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.-67111C>T r.(?) p.(=) - VUS g.7437716C>T - ARHGEF18(NM_001367823.1):c.34C>T (p.R12W) - ARHGEF18_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-67099A>C r.(?) p.(=) - VUS g.7437728A>C - ARHGEF18(NM_001367823.1):c.46A>C (p.S16R) - ARHGEF18_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-66873G>A r.(?) p.(=) - likely benign g.7437954G>A - ARHGEF18(NM_001367823.1):c.272G>A (p.R91Q) - ARHGEF18_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-63259G>A r.(?) p.(=) - VUS g.7441568G>A - ARHGEF18(NM_001367823.1):c.466G>A (p.V156I) - ARHGEF18_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-57066T>C r.(?) p.(=) - VUS g.7447761T>C - ARHGEF18(NM_001367823.1):c.806T>C (p.V269A) - ARHGEF18_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-57066T>C r.(?) p.(=) - VUS g.7447761T>C - ARHGEF18(NM_001367823.1):c.806T>C (p.V269A) - ARHGEF18_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.45T>A r.(?) p.(Ala15=) - likely benign g.7504871T>A g.7439985T>A ARHGEF18(NM_001130955.2):c.-118T>A - ARHGEF18_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.114C>A r.(?) p.(Gly38=) - likely benign g.7504940C>A g.7440054C>A ARHGEF18(NM_001130955.2):c.-49C>A - ARHGEF18_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.131C>G r.(?) p.(Ala44Gly) - likely benign g.7504957C>G g.7440071C>G ARHGEF18(NM_001130955.2):c.-32C>G - ARHGEF18_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.343G>A r.(?) p.(Gly115Arg) - VUS g.7505169G>A g.7440283G>A ARHGEF18(NM_001130955.2):c.181G>A (p.G61R) - ARHGEF18_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.343G>A r.(?) p.(Gly115Arg) - VUS g.7505169G>A g.7440283G>A - - ARHGEF18_000004 - PubMed: Arno 2017 - rs375852625 Germline - - - - - Johan den Dunnen
?/. - c.359C>T r.(?) p.(Pro120Leu) - VUS g.7505185C>T g.7440299C>T ARHGEF18(NM_001130955.2):c.197C>T (p.P66L) - ARHGEF18_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.442G>T r.(?) p.(Asp148Tyr) - VUS g.7505268G>T g.7440382G>T ARHGEF18(NM_001130955.2):c.280G>T (p.D94Y) - ARHGEF18_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.506C>A r.(?) p.(Pro169Gln) - VUS g.7505332C>A g.7440446C>A - - ARHGEF18_000037 - PubMed: Arno 2017 - rs28489511 Germline - - - - - Johan den Dunnen
-?/. - c.541G>A r.(?) p.(Gly181Arg) - likely benign g.7505367G>A g.7440481G>A ARHGEF18(NM_001130955.2):c.379G>A (p.G127R), ARHGEF18(NM_001367823.1):c.1105G>A (p.G369R) - ARHGEF18_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.541G>A r.(?) p.(Gly181Arg) - VUS g.7505367G>A - ARHGEF18(NM_001130955.2):c.379G>A (p.G127R), ARHGEF18(NM_001367823.1):c.1105G>A (p.G369R) - ARHGEF18_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.636C>T r.(?) p.(Thr212=) - likely benign g.7506632C>T - ARHGEF18(NM_001367823.1):c.1200C>T (p.T400=) - ARHGEF18_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.655+14C>T r.(=) p.(=) - likely benign g.7506665C>T - ARHGEF18(NM_001367823.1):c.1219+14C>T - ARHGEF18_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.658C>T r.(?) p.(Pro220Ser) - likely benign g.7506800C>T - ARHGEF18(NM_001367823.1):c.1222C>T (p.P408S) - ARHGEF18_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.658C>T r.(?) p.(Pro220Ser) - likely benign g.7506800C>T - ARHGEF18(NM_001367823.1):c.1222C>T (p.P408S) - ARHGEF18_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.714T>C r.(?) p.(Ala238=) - likely benign g.7506856T>C - ARHGEF18(NM_001130955.2):c.552T>C (p.A184=) - ARHGEF18_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.794A>T r.(?) p.(Tyr265Phe) - VUS g.7506936A>T g.7442050A>T - - ARHGEF18_000038 - PubMed: Arno 2017 - rs74497723 Germline - - - - - Johan den Dunnen
-?/. - c.796+20G>A r.(=) p.(=) - likely benign g.7506958G>A - ARHGEF18(NM_001367823.1):c.1360+20G>A - ARHGEF18_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.808A>G r.(?) p.(Thr270Ala) - pathogenic (recessive) g.7509101A>G g.7444215A>G - - ARHGEF18_000030 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.808A>G r.(?) p.(Thr270Ala) - likely pathogenic g.7509101A>G g.7444215A>G ARHGEF18 c.808A>G, p.Thr270Ala - ARHGEF18_000030 heterozygous, different transcript, NM_001130955.1:c.808A>G, p.Thr270Ala PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
-/. - c.822C>T r.(?) p.(His274=) - benign g.7509115C>T g.7444229C>T ARHGEF18(NM_001130955.2):c.660C>T (p.H220=) - ARHGEF18_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.827G>A r.(?) p.(Arg276Gln) - VUS g.7509120G>A g.7444234G>A ARHGEF18(NM_001130955.2):c.665G>A (p.R222Q) - ARHGEF18_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1039G>A r.(?) p.(Val347Ile) - VUS g.7509332G>A - ARHGEF18(NM_001367823.1):c.1603G>A (p.V535I) - ARHGEF18_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1039G>A r.(?) p.(Val347Ile) - VUS g.7509332G>A - ARHGEF18(NM_001367823.1):c.1603G>A (p.V535I) - ARHGEF18_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1135C>G r.(?) p.(Leu379Val) - VUS g.7512016C>G g.7447130C>G ARHGEF18(NM_001130955.2):c.973C>G (p.L325V), ARHGEF18(NM_001367823.1):c.1699C>G (p.L567V) - ARHGEF18_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1173+21dup r.(=) p.(=) - benign g.7512075dup g.7447189dup ARHGEF18(NM_001130955.2):c.1011+21dupT - ARHGEF18_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1174-11C>G r.(=) p.(=) - benign g.7516024C>G g.7451138C>G ARHGEF18(NM_001130955.2):c.1012-11C>G - ARHGEF18_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1185C>G r.(?) p.(Asn395Lys) - VUS g.7516046C>G - ARHGEF18(NM_001367823.1):c.1749C>G (p.N583K) - ARHGEF18_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1210G>A r.(?) p.(Val404Met) - VUS g.7516071G>A g.7451185G>A - - ARHGEF18_000036 - PubMed: Arno 2017 - rs368588291 Germline - - - - - Johan den Dunnen
?/. - c.1276A>C r.(?) p.(Ile426Leu) ACMG VUS g.7516137A>C g.7451251A>C - - ARHGEF18_000069 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
+?/. - c.1286C>T r.(?) p.(Thr429Met) - VUS g.7516147C>T g.7451261C>T - - ARHGEF18_000035 - PubMed: Arno 2017 - rs200483329 Germline - - - - - Johan den Dunnen
?/. - c.1408G>A r.(?) p.(Ala470Thr) - VUS g.7518469G>A - ARHGEF18(NM_015318.3):c.934G>A (p.A312T) - ARHGEF18_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1463G>A r.(?) p.(Arg488His) - VUS g.7518524G>A - ARHGEF18(NM_001367823.1):c.2027G>A (p.R676H) - ARHGEF18_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1523C>T r.(?) p.(Thr508Ile) - VUS g.7518584C>T - ARHGEF18(NM_001367823.1):c.2087C>T (p.T696I) - ARHGEF18_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1523C>T r.(?) p.(Thr508Ile) ACMG VUS g.7518584C>T g.7453698C>T - - ARHGEF18_000053 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
-?/. - c.1602C>T r.(?) p.(Tyr534=) - likely benign g.7521274C>T g.7456388C>T ARHGEF18(NM_001130955.2):c.1440C>T (p.Y480=) - ARHGEF18_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1617+5G>A r.[1541_1617del,=] p.[Asp540Gly*37,=] - pathogenic (recessive) g.7521294G>A g.7456408G>A - - ARHGEF18_000034 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.1725G>A r.(?) p.(Met575Ile) - VUS g.7523505G>A - ARHGEF18(NM_001130955.2):c.1563G>A (p.M521I) - ARHGEF18_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1888+4A>T r.spl? p.? - VUS g.7524884A>T - ARHGEF18(NM_001367823.1):c.2452+4A>T - ARHGEF18_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1888+4A>T r.spl p.? ACMG VUS g.7524884A>T g.7459998A>T c.1414+4A>T - ARHGEF18_000040 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
-?/. - c.1888+7G>A r.(=) p.(=) - likely benign g.7524887G>A g.7460001G>A ARHGEF18(NM_001130955.2):c.1726+7G>A - ARHGEF18_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1889-1G>A r.spl? p.? - pathogenic g.7527037G>A - ARHGEF18(NM_015318.3):c.1415-1G>A - ARHGEF18_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1956G>A r.(?) p.(Glu652=) - benign g.7527105G>A g.7462219G>A ARHGEF18(NM_001130955.2):c.1794G>A (p.E598=), ARHGEF18(NM_001367823.1):c.2520G>A (p.E840=) - ARHGEF18_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1956G>A r.(?) p.(Glu652=) - likely benign g.7527105G>A - ARHGEF18(NM_001130955.2):c.1794G>A (p.E598=), ARHGEF18(NM_001367823.1):c.2520G>A (p.E840=) - ARHGEF18_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1977C>G r.(?) p.(Leu659=) - likely benign g.7527126C>G - ARHGEF18(NM_015318.3):c.1503C>G (p.L501=) - ARHGEF18_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1996C>T r.(?) p.(Arg666*) - pathogenic (recessive) g.7527145C>T g.7462259C>T - - ARHGEF18_000031 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.1996C>T r.(?) p.(Arg666*) - likely pathogenic g.7527145C>T g.7462259C>T ARHGEF18 c.1996C>T, p.Arg666Ter - ARHGEF18_000031 heterozygous, different transcript, NM_001130955.1:c.1996C>T, p.Arg666Ter PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
-?/. - c.2046A>G r.(?) p.(Leu682=) - likely benign g.7527195A>G - ARHGEF18(NM_001367823.1):c.2610A>G (p.L870=), ARHGEF18(NM_015318.3):c.1572A>G (p.L524=) - ARHGEF18_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2046A>G r.(?) p.(Leu682=) - likely benign g.7527195A>G - ARHGEF18(NM_001367823.1):c.2610A>G (p.L870=), ARHGEF18(NM_015318.3):c.1572A>G (p.L524=) - ARHGEF18_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2058G>A r.(?) p.(=) - likely benign g.7527207G>A - ARHGEF18(NM_001367823.1):c.2622G>A (p.S874=) - ARHGEF18_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2067C>T r.(?) p.(Ser689=) - likely benign g.7527216C>T - ARHGEF18(NM_001367823.1):c.2631C>T (p.S877=) - ARHGEF18_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2112C>T r.(?) p.(Ser704=) - benign g.7528744C>T g.7463858C>T ARHGEF18(NM_001130955.2):c.1950C>T (p.S650=) - ARHGEF18_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2118C>T r.(?) p.(Asn706=) - likely benign g.7528750C>T - ARHGEF18(NM_001367823.1):c.2682C>T (p.N894=) - ARHGEF18_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2126C>T r.(?) p.(Ala709Val) - likely benign g.7528758C>T - ARHGEF18(NM_015318.3):c.1652C>T (p.A551V) - ARHGEF18_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2145C>T r.(?) p.(Ser715=) - benign g.7528777C>T g.7463891C>T ARHGEF18(NM_001130955.2):c.1983C>T (p.S661=) - ARHGEF18_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2280C>T r.(?) p.(Ser760=) - benign g.7529516C>T g.7464630C>T ARHGEF18(NM_001130955.2):c.2118C>T (p.S706=) - ARHGEF18_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.2341-1G>T r.spl? p.? - likely pathogenic g.7531803G>T - ARHGEF18(NM_001367823.1):c.2905-1G>T - ARHGEF18_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2393C>T r.(?) p.(Ser798Leu) - likely benign g.7531856C>T g.7466970C>T ARHGEF18(NM_001130955.2):c.2231C>T (p.S744L), ARHGEF18(NM_001367823.1):c.2957C>T (p.S986L) - ARHGEF18_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2393C>T r.(?) p.(Ser798Leu) - VUS g.7531856C>T - ARHGEF18(NM_001130955.2):c.2231C>T (p.S744L), ARHGEF18(NM_001367823.1):c.2957C>T (p.S986L) - ARHGEF18_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2554C>A r.(?) p.(Gln852Lys) - likely benign g.7532208C>A g.7467322C>A ARHGEF18(NM_001130955.2):c.2392C>A (p.Q798K) - ARHGEF18_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2604G>C r.(?) p.(Leu868=) - benign g.7532258G>C g.7467372G>C ARHGEF18(NM_001130955.2):c.2442G>C (p.L814=), ARHGEF18(NM_001367823.1):c.3168G>C (p.L1056=) - ARHGEF18_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2604G>C r.(?) p.(Leu868=) - likely benign g.7532258G>C - ARHGEF18(NM_001130955.2):c.2442G>C (p.L814=), ARHGEF18(NM_001367823.1):c.3168G>C (p.L1056=) - ARHGEF18_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2632G>T r.(?) p.(Glu878*) - pathogenic (recessive) g.7532286G>T g.7467400G>T - - ARHGEF18_000032 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.2632G>T r.(?) p.(Glu878*) - likely pathogenic g.7532286G>T g.7467400G>T ARHGEF18 c.2632G>T, p.Glu878Ter - ARHGEF18_000032 heterozygous, different transcript, NM_001130955.1:c.2632G>T, p.Glu878Ter PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.2738_2761del r.(?) p.(Arg913_Glu920del) - pathogenic (recessive) g.7532392_7532415del g.7467506_7467529del - - ARHGEF18_000033 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.2738_2761del r.(?) p.(Arg913_Glu920del) - likely pathogenic g.7532392_7532415del g.7467506_7467529del ARHGEF18 c.2738_2761delGGCTGGAGCAGGAGCGGGCCGAGC, p.Arg913_Glu920del - ARHGEF18_000033 heterozygous, different transcript, NM_001130955.1: c.2738_2761delGGCTGGAGCAGGAGCGGGCCGAGC, p.Arg913_Glu920del PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
-?/. - c.2757C>G r.(?) p.(Ala919=) - likely benign g.7532411C>G - ARHGEF18(NM_001367823.1):c.3321C>G (p.A1107=) - ARHGEF18_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2763G>T r.(?) p.(Leu921=) - likely benign g.7532417G>T g.7467531G>T ARHGEF18(NM_001130955.2):c.2601G>T (p.L867=) - ARHGEF18_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2790C>G r.(?) p.(His930Gln) - VUS g.7532444C>G - - - ARHGEF18_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2992G>A r.(?) p.(Gly998Ser) - VUS g.7533786G>A g.7468900G>A ARHGEF18(NM_001130955.2):c.2830G>A (p.G944S) - ARHGEF18_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2992G>A r.(?) p.(Gly998Ser) - likely benign g.7533786G>A g.7468900G>A ARHGEF18(NM_001130955.2):c.2830G>A (p.G944S) - ARHGEF18_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3017G>A r.(?) p.(Arg1006His) - VUS g.7533811G>A g.7468925G>A ARHGEF18(NM_001130955.2):c.2855G>A (p.R952H) - ARHGEF18_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3035G>A r.(?) p.(Arg1012Gln) - VUS g.7533829G>A g.7468943G>A ARHGEF18(NM_001130955.2):c.2873G>A (p.R958Q) - ARHGEF18_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3097G>A r.(?) p.(Ala1033Thr) - likely benign g.7533891G>A g.7469005G>A ARHGEF18(NM_001367823.1):c.3661G>A (p.A1221T), ARHGEF18(NM_015318.3):c.2623G>A (p.A875T) - ARHGEF18_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3097G>A r.(?) p.(Ala1033Thr) - likely benign g.7533891G>A - ARHGEF18(NM_001367823.1):c.3661G>A (p.A1221T), ARHGEF18(NM_015318.3):c.2623G>A (p.A875T) - ARHGEF18_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3187G>A r.(?) p.(Gly1063Ser) - likely benign g.7533981G>A g.7469095G>A ARHGEF18(NM_001367823.1):c.3751G>A (p.G1251S) - ARHGEF18_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3219C>T r.(?) p.(Ser1073=) - likely benign g.7534013C>T - ARHGEF18(NM_001367823.1):c.3783C>T (p.S1261=) - ARHGEF18_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3219C>T r.(?) p.(Ser1073=) - likely benign g.7534013C>T - ARHGEF18(NM_001367823.1):c.3783C>T (p.S1261=) - ARHGEF18_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3284C>A r.(?) p.(Thr1095Asn) - VUS g.7534850C>A - ARHGEF18(NM_001367823.1):c.3848C>A (p.T1283N) - ARHGEF18_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3296G>A r.(?) p.(Arg1099His) - VUS g.7534862G>A g.7469976G>A ARHGEF18(NM_001130955.2):c.3134G>A (p.R1045H) - ARHGEF18_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3298C>T r.(?) p.(Arg1100Cys) - VUS g.7534864C>T - ARHGEF18(NM_001130955.2):c.3136C>T (p.R1046C), ARHGEF18(NM_001367823.1):c.3862C>T (p.R1288C) - ARHGEF18_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3417C>T r.(?) p.(Ala1139=) - likely benign g.7535079C>T - ARHGEF18(NM_001367823.1):c.3981C>T (p.A1327=) - ARHGEF18_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3418G>A r.(?) p.(Gly1140Arg) - VUS g.7535080G>A g.7470194G>A ARHGEF18(NM_001130955.2):c.3256G>A (p.G1086R), ARHGEF18(NM_001367823.1):c.3982G>A (p.G1328R) - ARHGEF18_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3418G>A r.(?) p.(Gly1140Arg) - likely benign g.7535080G>A g.7470194G>A ARHGEF18(NM_001130955.2):c.3256G>A (p.G1086R), ARHGEF18(NM_001367823.1):c.3982G>A (p.G1328R) - ARHGEF18_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3418G>A r.(?) p.(Gly1140Arg) ACMG VUS g.7535080G>A g.7470194G>A c.2944G>A - ARHGEF18_000026 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
-?/. - c.3444C>G r.(?) p.(Pro1148=) - likely benign g.7535106C>G - ARHGEF18(NM_001367823.1):c.4008C>G (p.P1336=) - ARHGEF18_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.