Unique variants in the ARHGAP4 gene

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

126 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

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     
./. 1 - c.-418250_*462377dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.-4586C>T r.(?) p.(=) - VUS g.153196242G>A g.153930789G>A - - ARHGAP4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.-4553G>A r.(?) p.(=) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-4000G>A r.(?) p.(=) - likely benign g.153195656C>T - NAA10(NM_003491.3):c.492G>A (p.L164=) - ARHGAP4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3915G>C r.(?) p.(=) - likely benign g.153195571C>G - NAA10(NM_003491.3):c.577G>C (p.A193P) - ARHGAP4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.16A>T r.(?) p.(Lys6Ter) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.68-5C>T r.spl? p.? - benign g.153187267G>A g.153921814G>A ARHGAP4(NM_001164741.1):c.68-5C>T - ARHGAP4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.127C>T r.(?) p.(Arg43Trp) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.157A>G r.(?) p.(Met53Val) - VUS g.153187173T>C g.153921720T>C - - ARHGAP4_000045 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.168C>T r.(?) p.(Arg56=) - likely benign g.153187162G>A - ARHGAP4(NM_001164741.1):c.168C>T (p.R56=) - ARHGAP4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.193C>T r.(?) p.(Arg65Trp) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.236G>T r.(?) p.(Gly79Val) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.309G>T r.(?) p.(Trp103Cys) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.342C>T r.(?) p.(Ser114=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.379C>T r.(?) p.(Pro127Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.381C>T r.(?) p.(Pro127=) - likely benign g.153186872G>A - ARHGAP4(NM_001164741.1):c.381C>T (p.P127=) - ARHGAP4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 - c.498+65dup r.(=) p.(=) - VUS g.153186488dup g.153921035dup - - ARHGAP4_000009, ARHGAP4_000018 - - - - Germline - - - - - Yu Sun
?/. 4 - c.498+137dup r.(=) p.(=) - VUS g.153186414dup g.153920961dup - - ARHGAP4_000007, ARHGAP4_000017 - - - - Germline - - - - - Yu Sun
?/. 1 - c.509C>T r.(?) p.(Thr170Met) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.557G>A r.(?) p.(Arg186Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.670C>A r.(?) p.(Leu224Met) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.682-377C>T r.(=) p.(=) - VUS g.153185114G>A g.153919660G>A ARHGAP4(NM_001164741.1):c.708C>T (p.(=)) - ARHGAP4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.682-283G>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.805A>G r.(?) p.(Met269Val) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.811-3C>T r.spl? p.? - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.878G>A r.(?) p.(Arg293His) - VUS g.153184440C>T - ARHGAP4(NM_001164741.1):c.998G>A (p.R333H) - ARHGAP4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.932C>T r.(?) p.(Ala311Val) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.941C>G r.(?) p.(Pro314Arg) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.981C>T r.(?) p.(Thr327=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1047C>T r.(?) p.(Cys349=) - likely benign g.153179319G>A - ARHGAP4(NM_001164741.1):c.1167C>T (p.C389=) - ARHGAP4_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1167C>T r.(?) p.(Ala389=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1282C>T r.(?) p.(Arg428Trp) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1308C>T r.(?) p.(Thr436=) - likely benign g.153178881G>A - ARHGAP4(NM_001164741.1):c.1428C>T (p.T476=) - ARHGAP4_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 - c.1439+18dup r.(=) p.(=) - VUS g.153178462dup g.153913008dup - - ARHGAP4_000005, ARHGAP4_000016 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1516G>A r.(?) p.(Gly506Arg) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.1533G>A r.(=) p.(=) - likely benign g.153178163C>T g.153912709C>T K511K - ARHGAP4_000044 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1543-62_1543-60del r.(=) p.(=) - VUS g.153176703_153176705del g.153911249_153911251del - - ARHGAP4_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1585C>T r.(?) p.(Arg529Cys) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1680A>G r.(?) p.(Arg560=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1692A>G r.(?) p.(Pro564=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1734C>T r.(?) p.(Ala578=) - likely benign g.153176236G>A - ARHGAP4(NM_001164741.1):c.1854C>T (p.A618=) - ARHGAP4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1783C>G r.(?) p.(Pro595Ala) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1875C>T r.(?) p.(=) - VUS g.153176007G>A g.153910553G>A - - ARHGAP4_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1980C>T r.(?) p.(Phe660=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1993C>T r.(?) p.(Leu665=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1997C>T r.(?) p.(Pro666Leu) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2031G>A r.(?) p.(Gln677=) - likely benign g.153175750C>T - ARHGAP4(NM_001164741.1):c.2151G>A (p.Q717=) - ARHGAP4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2036G>A r.(?) p.(Arg679Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2113G>A r.(?) p.(Val705Ile) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2142C>T r.(?) p.(Ser714=) - likely benign g.153175639G>A - ARHGAP4(NM_001164741.1):c.2262C>T (p.S754=) - ARHGAP4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2175C>T r.(?) p.(Ser725=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2240G>A r.(?) p.(Gly747Glu) - VUS g.153175369C>T - ARHGAP4(NM_001164741.1):c.2360G>A (p.G787E) - ARHGAP4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2412C>A r.(?) p.(Ala804=) - likely benign g.153175197G>T - ARHGAP4(NM_001164741.1):c.2532C>A (p.A844=) - ARHGAP4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2414+6T>C r.(=) p.(=) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 2 - c.2415-65dup r.(=) p.(=) - VUS g.153175054dup g.153909600dup - - ARHGAP4_000015 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2415-4G>A r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.2415-3C>T r.spl? p.? - likely benign g.153174992G>A - ARHGAP4(NM_001164741.1):c.2535-3C>T - ARHGAP4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2455G>T r.(?) p.(Gly819Trp) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2470A>C r.(?) p.(Ser824Arg) - likely benign, VUS g.153174934T>G g.153909480T>G ARHGAP4(NM_001164741.1):c.2590A>C (p.(Ser864Arg)) - ARHGAP4_000043 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.2482C>T r.(?) p.(Leu828Phe) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.2496G>C r.(?) p.(Glu832Asp) - 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 - - - - - VKGL-NL_Rotterdam
?/. 3 - c.2507+29dup r.(=) p.(=) - VUS g.153174869dup g.153909415dup - - ARHGAP4_000001, ARHGAP4_000014 - - - - Germline - - - - - Yu Sun
?/. 4 - c.2507+77dup r.(=) p.(=) - VUS g.153174821dup g.153909367dup - - ARHGAP4_000011, ARHGAP4_000019 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2550A>G r.(?) p.(Gly850=) - likely benign g.153174581T>C - ARHGAP4(NM_001164741.1):c.2670A>G (p.G890=) - ARHGAP4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2560C>T r.(?) p.(Arg854Cys) - likely benign g.153174571G>A - ARHGAP4(NM_001164741.1):c.2680C>T (p.R894C) - ARHGAP4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2593G>A r.(?) p.(Val865Met) - VUS g.153174538C>T - ARHGAP4(NM_001164741.1):c.2713G>A (p.V905M) - ARHGAP4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2611G>A r.(?) p.(Val871Met) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2741G>T r.(?) p.(Arg914Leu) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2768G>A r.(?) p.(Arg923Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2822C>T r.(?) p.(Thr941Met) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*673C>T r.(=) p.(=) - VUS g.153172510G>A g.153907056G>A AVPR2(NR_027419.1):n.1491G>A - ARHGAP4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1005G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1046G>A r.(=) p.(=) - likely benign g.153172137C>T - AVPR2(NM_000054.5):c.1071C>T (p.S357=) - ARHGAP4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.*1062C>T r.(=) p.(=) - benign, 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_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.*1080C>T r.(=) p.(=) - likely benign g.153172103G>A - AVPR2(NM_000054.5):c.1037G>A (p.R346H) - ARHGAP4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1081G>A r.(=) p.(=) - likely benign g.153172102C>T - AVPR2(NM_000054.5):c.1036C>T (p.R346C) - ARHGAP4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.*1100C>T r.(=) p.(=) - benign, likely benign g.153172083G>A g.153906629G>A AVPR2(NM_000054.5):c.1017G>A (p.L339=), AVPR2(NM_000054.6):c.1017G>A (p.L339=) - AVPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.*1108G>A r.(=) p.(=) - pathogenic g.153172075C>T g.153906621C>T - - AVPR2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*1115dup r.(?) p.(=) - pathogenic g.153172068dup g.153906614dup - - ARHGAP4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*1124G>A r.(=) p.(=) - benign g.153172059C>T g.153906605C>T AVPR2(NM_000054.6):c.993C>T (p.S331=) - AVPR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*1142A>G r.(=) p.(=) - likely benign g.153172041T>C - AVPR2(NM_000054.5):c.975T>C (p.Y325=) - ARHGAP4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*1149C>T r.(=) p.(=) - pathogenic g.153172034G>A g.153906580G>A - - AVPR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.*1163G>C r.(=) p.(=) - likely pathogenic g.153172020C>G g.153906566C>G - - AVPR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*1173C>A r.(=) p.(=) - VUS g.153172010G>T g.153906556G>T - - AVPR2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.*1190T>C r.(=) p.(=) - benign g.153171993A>G g.153906539A>G AVPR2(NM_000054.6):c.927A>G (p.L309=) - AVPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 - c.*1312C>T r.(=) p.(=) - pathogenic g.153171871G>A g.153906417G>A - - AVPR2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*1332G>A r.(=) p.(=) - likely benign g.153171851C>T g.153906397C>T AVPR2(NM_001146151.2):c.891C>T (p.D297=) - AVPR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1388C>T r.(=) p.(=) - likely benign g.153171795G>A g.153906341G>A AVPR2(NM_000054.4):c.835G>A (p.(Val279Ile)) - ARHGAP4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1391_*1396del r.(=) p.(=) - VUS g.153171788_153171793del g.153906334_153906339del - - AVPR2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*1469G>A r.(=) p.(=) - likely benign g.153171714C>T g.153906260C>T AVPR2(NM_000054.4):c.754C>T (p.(Arg252Trp)) - ARHGAP4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1471C>T r.(=) p.(=) - likely benign g.153171712G>A g.153906258G>A AVPR2(NM_001146151.2):c.752G>A (p.R251H) - ARHGAP4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*1473_*1484del r.(=) p.(=) - likely benign g.153171704_153171715del g.153906250_153906261del 1 more item - AVPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.*1481G>A r.(=) p.(=) - VUS g.153171702C>T - AVPR2(NM_001146151.2):c.742C>T (p.R248C) - ARHGAP4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1483C>T r.(=) p.(=) - likely benign g.153171700G>A g.153906246G>A AVPR2(NM_001146151.2):c.740G>A (p.R247H) - AVPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1580C>T r.(=) p.(=) - likely benign g.153171603G>A g.153906149G>A AVPR2(NM_001146151.3):c.643G>A (p.V215M) - ARHGAP4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.*1619G>A r.(=) p.(=) - likely pathogenic g.153171564C>T g.153906110C>T - - AVPR2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*1670C>A r.(=) p.(=) - pathogenic g.153171513G>T g.153906059G>T - - AVPR2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*1677G>A r.(=) p.(=) - likely benign g.153171506C>T g.153906052C>T AVPR2(NM_001146151.2):c.546C>T (p.N182=) - ARHGAP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*1682G>A r.(=) p.(=) - pathogenic g.153171501C>T g.153906047C>T - - AVPR2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.*1732C>A r.(=) p.(=) - likely pathogenic g.153171451G>T g.153905997G>T AVPR2(NM_000054.6):c.491G>T (p.W164L) - AVPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query   « First ‹ Prev     1 2     Next › Last »