Full data view for gene ARHGAP4

Information The variants shown are described using the NM_001666.4 transcript reference sequence.

168 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-418250_*462377dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
?/. - c.-4586C>T r.(?) p.(=) Unknown - VUS g.153196242G>A g.153930789G>A - - ARHGAP4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4553G>A r.(?) p.(=) Unknown - VUS g.153196209C>T g.153930756C>T NAA10(NM_001256119.1):c.426+7G>A (p.(=)), NAA10(NM_003491.3):c.471+7G>A - NAA10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4553G>A r.(?) p.(=) Unknown - likely benign g.153196209C>T g.153930756C>T NAA10(NM_001256119.1):c.426+7G>A (p.(=)), NAA10(NM_003491.3):c.471+7G>A - NAA10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4000G>A r.(?) p.(=) Unknown - likely benign g.153195656C>T - NAA10(NM_003491.3):c.492G>A (p.L164=) - ARHGAP4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3915G>C r.(?) p.(=) Unknown - likely benign g.153195571C>G - NAA10(NM_003491.3):c.577G>C (p.A193P) - ARHGAP4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3894C>T r.(?) p.(=) Unknown - likely benign g.153195550G>A - NAA10(NM_003491.3):c.598C>T (p.L200=) - ARHGAP4_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16A>T r.(?) p.(Lys6Ter) Unknown - VUS g.153191641T>A g.153926187T>A ARHGAP4(NM_001164741.1):c.16A>T (p.K6*) - ARHGAP4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-5C>T r.spl? p.? Unknown - benign g.153187267G>A g.153921814G>A ARHGAP4(NM_001164741.1):c.68-5C>T - ARHGAP4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127C>T r.(?) p.(Arg43Trp) Unknown - VUS g.153187203G>A g.153921750G>A ARHGAP4(NM_001164741.1):c.127C>T (p.R43W) - ARHGAP4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.157A>G r.(?) p.(Met53Val) Parent #1 - VUS g.153187173T>C g.153921720T>C - - ARHGAP4_000045 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.168C>T r.(?) p.(Arg56=) Unknown - likely benign g.153187162G>A - ARHGAP4(NM_001164741.1):c.168C>T (p.R56=) - ARHGAP4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193C>T r.(?) p.(Arg65Trp) Unknown - VUS g.153187137G>A g.153921684G>A ARHGAP4(NM_001164741.1):c.193C>T (p.(Arg65Trp)) - ARHGAP4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236G>T r.(?) p.(Gly79Val) Unknown - likely benign g.153187094C>A g.153921641C>A ARHGAP4(NM_001164741.1):c.236G>T (p.G79V) - ARHGAP4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236G>T r.(?) p.(Gly79Val) Unknown - VUS g.153187094C>A g.153921641C>A ARHGAP4(NM_001164741.1):c.236G>T (p.G79V) - ARHGAP4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.309G>T r.(?) p.(Trp103Cys) Unknown - VUS g.153186944C>A g.153921491C>A ARHGAP4(NM_001164741.1):c.309G>T (p.W103C) - ARHGAP4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.342C>T r.(?) p.(Ser114=) Unknown - benign g.153186911G>A g.153921458G>A ARHGAP4(NM_001164741.1):c.342C>T (p.S114=) - ARHGAP4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379C>T r.(?) p.(Pro127Ser) Unknown - VUS g.153186874G>A g.153921421G>A ARHGAP4(NM_001164741.1):c.379C>T (p.P127S) - ARHGAP4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381C>T r.(?) p.(Pro127=) Unknown - likely benign g.153186872G>A - ARHGAP4(NM_001164741.1):c.381C>T (p.P127=) - ARHGAP4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.498+65dup r.(=) p.(=) Maternal (inferred) - VUS g.153186488dup g.153921035dup - - ARHGAP4_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+65dup r.(=) p.(=) Maternal (inferred) - VUS g.153186488dup g.153921035dup - - ARHGAP4_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+65dup r.(=) p.(=) Maternal (inferred) - VUS g.153186488dup g.153921035dup - - ARHGAP4_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+65dup r.(=) p.(=) Maternal (inferred) - VUS g.153186488dup g.153921035dup - - ARHGAP4_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+137dup r.(=) p.(=) Maternal (inferred) - VUS g.153186414dup g.153920961dup - - ARHGAP4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+137dup r.(=) p.(=) Maternal (inferred) - VUS g.153186414dup g.153920961dup - - ARHGAP4_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+137dup r.(=) p.(=) Maternal (inferred) - VUS g.153186414dup g.153920961dup - - ARHGAP4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.498+137dup r.(=) p.(=) Maternal (inferred) - VUS g.153186414dup g.153920961dup - - ARHGAP4_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.509C>T r.(?) p.(Thr170Met) Unknown - VUS g.153186252G>A g.153920798G>A ARHGAP4(NM_001164741.1):c.509C>T (p.(Thr170Met)) - ARHGAP4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.557G>A r.(?) p.(Arg186Gln) Unknown - likely benign g.153186204C>T g.153920750C>T ARHGAP4(NM_001164741.1):c.557G>A (p.R186Q) - ARHGAP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670C>A r.(?) p.(Leu224Met) Unknown - VUS g.153186091G>T g.153920637G>T ARHGAP4(NM_001164741.1):c.670C>A (p.L224M) - ARHGAP4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682-377C>T r.(=) p.(=) Unknown - VUS g.153185114G>A g.153919660G>A ARHGAP4(NM_001164741.1):c.708C>T (p.(=)) - ARHGAP4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.682-283G>T r.(=) p.(=) Unknown - likely benign g.153185020C>A g.153919566C>A ARHGAP4(NM_001164741.1):c.801+1G>T - ARHGAP4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.805A>G r.(?) p.(Met269Val) Unknown - VUS g.153184614T>C g.153919160T>C ARHGAP4(NM_001164741.1):c.925A>G (p.M309V) - ARHGAP4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811-3C>T r.spl? p.? Unknown - likely benign g.153184510G>A g.153919056G>A ARHGAP4(NM_001164741.1):c.931-3C>T - ARHGAP4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878G>A r.(?) p.(Arg293His) Unknown - VUS g.153184440C>T - ARHGAP4(NM_001164741.1):c.998G>A (p.R333H) - ARHGAP4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.932C>T r.(?) p.(Ala311Val) Unknown - benign g.153184386G>A g.153918932G>A ARHGAP4(NM_001164741.1):c.1052C>T (p.A351V, p.(Ala351Val)) - ARHGAP4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932C>T r.(?) p.(Ala311Val) Unknown - likely benign g.153184386G>A g.153918932G>A ARHGAP4(NM_001164741.1):c.1052C>T (p.A351V, p.(Ala351Val)) - ARHGAP4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941C>G r.(?) p.(Pro314Arg) Unknown - VUS g.153184377G>C g.153918923G>C ARHGAP4(NM_001164741.1):c.1061C>G (p.P354R, p.(Pro354Arg)) - ARHGAP4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.941C>G r.(?) p.(Pro314Arg) Unknown - likely benign g.153184377G>C g.153918923G>C ARHGAP4(NM_001164741.1):c.1061C>G (p.P354R, p.(Pro354Arg)) - ARHGAP4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981C>T r.(?) p.(Thr327=) Unknown - likely benign g.153184337G>A g.153918883G>A ARHGAP4(NM_001164741.1):c.1101C>T (p.T367=) - ARHGAP4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047C>T r.(?) p.(Cys349=) Unknown - likely benign g.153179319G>A - ARHGAP4(NM_001164741.1):c.1167C>T (p.C389=) - ARHGAP4_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1167C>T r.(?) p.(Ala389=) Unknown - likely benign g.153179022G>A g.153913568G>A ARHGAP4(NM_001164741.1):c.1287C>T (p.A429=) - ARHGAP4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282C>T r.(?) p.(Arg428Trp) Unknown - VUS g.153178907G>A g.153913453G>A ARHGAP4(NM_001164741.1):c.1402C>T (p.R468W) - ARHGAP4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308C>T r.(?) p.(Thr436=) Unknown - likely benign g.153178881G>A - ARHGAP4(NM_001164741.1):c.1428C>T (p.T476=) - ARHGAP4_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1439+18dup r.(=) p.(=) Maternal (inferred) - VUS g.153178462dup g.153913008dup - - ARHGAP4_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1439+18dup r.(=) p.(=) Maternal (inferred) - VUS g.153178462dup g.153913008dup - - ARHGAP4_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1439+18dup r.(=) p.(=) Maternal (inferred) - VUS g.153178462dup g.153913008dup - - ARHGAP4_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1439+18dup r.(=) p.(=) Maternal (inferred) - VUS g.153178462dup g.153913008dup - - ARHGAP4_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1516G>A r.(?) p.(Gly506Arg) Unknown - VUS g.153178180C>T g.153912726C>T ARHGAP4(NM_001164741.1):c.1636G>A (p.(Gly546Arg)) - ARHGAP4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1533G>A r.(=) p.(=) Parent #1 - likely benign g.153178163C>T g.153912709C>T K511K - ARHGAP4_000044 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1543-62_1543-60del r.(=) p.(=) Unknown - VUS g.153176703_153176705del g.153911249_153911251del - - ARHGAP4_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1585C>T r.(?) p.(Arg529Cys) Unknown - VUS g.153176601G>A g.153911147G>A ARHGAP4(NM_001164741.1):c.1705C>T (p.R569C) - ARHGAP4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1680A>G r.(?) p.(Arg560=) Unknown - benign g.153176377T>C g.153910923T>C ARHGAP4(NM_001164741.1):c.1800A>G (p.R600=) - ARHGAP4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1692A>G r.(?) p.(Pro564=) Unknown - likely benign g.153176278T>C g.153910824T>C ARHGAP4(NM_001164741.1):c.1812A>G (p.P604=) - ARHGAP4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1734C>T r.(?) p.(Ala578=) Unknown - likely benign g.153176236G>A - ARHGAP4(NM_001164741.1):c.1854C>T (p.A618=) - ARHGAP4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1783C>G r.(?) p.(Pro595Ala) Unknown - likely benign g.153176187G>C g.153910733G>C ARHGAP4(NM_001164741.1):c.1903C>G (p.P635A) - ARHGAP4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1875C>T r.(?) p.(=) Unknown - VUS g.153176007G>A g.153910553G>A - - ARHGAP4_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1938C>T r.(?) p.(Ser646=) Unknown - likely benign g.153175843G>A - ARHGAP4(NM_001164741.1):c.2058C>T (p.S686=) - ARHGAP4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1980C>T r.(?) p.(Phe660=) Unknown - likely benign g.153175801G>A g.153910347G>A ARHGAP4(NM_001164741.1):c.2100C>T (p.F700=) - ARHGAP4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1993C>T r.(?) p.(Leu665=) Unknown - likely benign g.153175788G>A g.153910334G>A ARHGAP4(NM_001164741.1):c.2113C>T (p.L705=) - ARHGAP4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1997C>T r.(?) p.(Pro666Leu) Unknown - likely benign g.153175784G>A g.153910330G>A ARHGAP4(NM_001164741.1):c.2117C>T (p.P706L) - ARHGAP4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2031G>A r.(?) p.(Gln677=) Unknown - likely benign g.153175750C>T - ARHGAP4(NM_001164741.1):c.2151G>A (p.Q717=) - ARHGAP4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2036G>A r.(?) p.(Arg679Gln) Unknown - benign g.153175745C>T g.153910291C>T ARHGAP4(NM_001164741.1):c.2156G>A (p.R719Q) - ARHGAP4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2113G>A r.(?) p.(Val705Ile) Unknown - likely benign g.153175668C>T g.153910214C>T ARHGAP4(NM_001164741.1):c.2233G>A (p.V745I) - ARHGAP4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142C>T r.(?) p.(Ser714=) Unknown - likely benign g.153175639G>A - ARHGAP4(NM_001164741.1):c.2262C>T (p.S754=) - ARHGAP4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2175C>T r.(?) p.(Ser725=) Unknown - likely benign g.153175521G>A g.153910067G>A ARHGAP4(NM_001164741.1):c.2295C>T (p.S765=) - ARHGAP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2195C>T r.(?) p.(Pro732Leu) Unknown - likely benign g.153175501G>A - ARHGAP4(NM_001164741.1):c.2315C>T (p.P772L) - ARHGAP4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2240G>A r.(?) p.(Gly747Glu) Unknown - VUS g.153175369C>T - ARHGAP4(NM_001164741.1):c.2360G>A (p.G787E) - ARHGAP4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2412C>A r.(?) p.(Ala804=) Unknown - likely benign g.153175197G>T - ARHGAP4(NM_001164741.1):c.2532C>A (p.A844=) - ARHGAP4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2414+6T>C r.(=) p.(=) Unknown - VUS g.153175189A>G g.153909735A>G ARHGAP4(NM_001164741.1):c.2534+6T>C, ARHGAP4(NM_001164741.2):c.2534+6T>C - ARHGAP4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2414+6T>C r.(=) p.(=) Unknown - likely benign g.153175189A>G - ARHGAP4(NM_001164741.1):c.2534+6T>C, ARHGAP4(NM_001164741.2):c.2534+6T>C - ARHGAP4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2415-65dup r.(=) p.(=) Maternal (inferred) - VUS g.153175054dup g.153909600dup - - ARHGAP4_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2415-65dup r.(=) p.(=) Maternal (inferred) - VUS g.153175054dup g.153909600dup - - ARHGAP4_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.2415-4G>A r.spl? p.? Unknown - likely benign g.153174993C>T g.153909539C>T ARHGAP4(NM_001164741.1):c.2535-4G>A (p.?) - ARHGAP4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2415-3C>T r.spl? p.? Unknown - likely benign g.153174992G>A - ARHGAP4(NM_001164741.1):c.2535-3C>T - ARHGAP4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2455G>T r.(?) p.(Gly819Trp) Unknown - VUS g.153174949C>A g.153909495C>A ARHGAP4(NM_001164741.1):c.2575G>T (p.G859W) - ARHGAP4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2470A>C r.(?) p.(Ser824Arg) Parent #1 - VUS g.153174934T>G g.153909480T>G - - ARHGAP4_000043 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.2470A>C r.(?) p.(Ser824Arg) Unknown - likely benign g.153174934T>G g.153909480T>G ARHGAP4(NM_001164741.1):c.2590A>C (p.(Ser864Arg)) - ARHGAP4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2482C>T r.(?) p.(Leu828Phe) Unknown - VUS g.153174922G>A g.153909468G>A ARHGAP4(NM_001164741.1):c.2602C>T (p.(Leu868Phe)) - ARHGAP4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2496G>C r.(?) p.(Glu832Asp) Unknown - VUS g.153174908C>G g.153909454C>G ARHGAP4(NM_001164741.1):c.2616G>C (p.E872D) - ARHGAP4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2507+29dup r.(=) p.(=) Maternal (inferred) - VUS g.153174869dup g.153909415dup - - ARHGAP4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2507+29dup r.(=) p.(=) Maternal (inferred) - VUS g.153174869dup g.153909415dup - - ARHGAP4_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2507+29dup r.(=) p.(=) Maternal (inferred) - VUS g.153174869dup g.153909415dup - - ARHGAP4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2507+77dup r.(=) p.(=) Unknown - VUS g.153174821dup g.153909367dup - - ARHGAP4_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2507+77dup r.(=) p.(=) Maternal (inferred) - VUS g.153174821dup g.153909367dup - - ARHGAP4_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2507+77dup r.(=) p.(=) Maternal (inferred) - VUS g.153174821dup g.153909367dup - - ARHGAP4_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2507+77dup r.(=) p.(=) Maternal (inferred) - VUS g.153174821dup g.153909367dup - - ARHGAP4_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.2550A>G r.(?) p.(Gly850=) Unknown - likely benign g.153174581T>C - ARHGAP4(NM_001164741.1):c.2670A>G (p.G890=) - ARHGAP4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2560C>T r.(?) p.(Arg854Cys) Unknown - likely benign g.153174571G>A - ARHGAP4(NM_001164741.1):c.2680C>T (p.R894C) - ARHGAP4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2592C>T r.(?) p.(His864=) Unknown - likely benign g.153174539G>A - ARHGAP4(NM_001164741.1):c.2712C>T (p.H904=) - ARHGAP4_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2593G>A r.(?) p.(Val865Met) Unknown - VUS g.153174538C>T - ARHGAP4(NM_001164741.1):c.2713G>A (p.V905M) - ARHGAP4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2611G>A r.(?) p.(Val871Met) Unknown - VUS g.153173413C>T g.153907959C>T ARHGAP4(NM_001164741.1):c.2731G>A (p.V911M) - ARHGAP4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2741G>T r.(?) p.(Arg914Leu) Unknown - likely benign g.153173283C>A g.153907829C>A ARHGAP4(NM_001164741.1):c.2861G>T (p.R954L) - ARHGAP4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2768G>A r.(?) p.(Arg923Gln) Unknown - likely benign g.153173256C>T g.153907802C>T ARHGAP4(NM_001164741.1):c.2888G>A (p.R963Q) - ARHGAP4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2822C>T r.(?) p.(Thr941Met) Unknown - likely benign g.153173202G>A g.153907748G>A ARHGAP4(NM_001164741.1):c.2942C>T (p.T981M) - ARHGAP4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2825C>T r.(?) p.(Thr942Ile) Unknown - likely benign g.153173199G>A - ARHGAP4(NM_001164741.1):c.2945C>T (p.T982I) - ARHGAP4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*673C>T r.(=) p.(=) Unknown - VUS g.153172510G>A g.153907056G>A AVPR2(NR_027419.1):n.1491G>A - ARHGAP4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1005G>A r.(=) p.(=) Unknown - likely benign g.153172178C>T g.153906724C>T AVPR2(NM_000054.5):c.1112C>T (p.S371L) - ARHGAP4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1046G>A r.(=) p.(=) Unknown - likely benign g.153172137C>T - AVPR2(NM_000054.5):c.1071C>T (p.S357=) - ARHGAP4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1062C>T r.(=) p.(=) Unknown - likely benign g.153172121G>A g.153906667G>A AVPR2(NM_000054.5):c.1055G>A (p.G352D), AVPR2(NM_000054.6):c.1055G>A (p.G352D), AVPR2(NM_000054.7):c.1055G>A (p.G352D) - AVPR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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