Unique variants in the WAS gene

Information The variants shown are described using the NM_000377.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.5G>C r.(?) p.(Ser2Thr) - likely benign g.48542247G>C g.48683858G>C WAS(NM_000377.2):c.5G>C (p.S2T) - WAS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7G>A r.(?) p.(Gly3Arg) - VUS g.48542249G>A - - - WAS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.71C>A r.(?) p.(Ser24Tyr) - likely pathogenic g.48542313C>A - - - WAS_000056 - - - - Unknown - - - - - MobiDetails
-?/. 1 - c.90C>T r.(?) p.(His30=) - likely benign g.48542332C>T g.48683943C>T WAS(NM_000377.2):c.90C>T (p.H30=) - WAS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.100C>T r.(?) p.(Arg34Ter) - pathogenic g.48542342C>T g.48683953C>T WAS(NM_000377.2):c.100C>T (p.R34*) - WAS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.104T>A r.(?) p.(Leu35His) - pathogenic g.48542346T>A g.48683957T>A WAS(NM_000377.2):c.104T>A (p.L35H) - WAS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.142A>G r.(?) p.(Thr48Ala) - pathogenic g.48542681A>G g.48684292A>G - - WAS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.150T>A r.(?) p.(Val50=) - likely benign g.48542689T>A g.48684300T>A WAS(NM_000377.2):c.150T>A (p.V50=) - WAS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.197A>G r.(?) p.(Lys66Arg) - VUS g.48542736A>G g.48684347A>G WAS(NM_000377.2):c.197A>G (p.K66R) - WAS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.216G>A r.(?) p.(Val72=) - likely benign g.48542755G>A - WAS(NM_000377.2):c.216G>A (p.V72=) - WAS_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.223G>A r.(?) p.(Val75Met) - pathogenic g.48542762G>A g.48684373G>A - - WAS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.257G>A r.(?) p.(Arg86His) - VUS g.48542796G>A g.48684407G>A WAS(NM_000377.2):c.257G>A (p.R86H) - WAS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.264C>T r.(?) p.(Tyr88=) - likely benign g.48542803C>T g.48684414C>T WAS(NM_000377.2):c.264C>T (p.Y88=) - WAS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.273+10_273+11dup r.(=) p.(=) - benign, likely benign g.48542822_48542823dup g.48684433_48684434dup WAS(NM_000377.2):c.273+9_273+10dupCC - WAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/. 2 - c.273+11dup r.(=) p.(=) - benign, likely benign g.48542823dup g.48684434dup WAS(NM_000377.2):c.273+11dupC - WAS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.273+12A>C r.(=) p.(=) - VUS g.48542824A>C g.48684435A>C WAS(NM_000377.2):c.273+12A>C - WAS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.274-3C>T r.spl? p.? - VUS g.48543933C>T g.48685544C>T WAS(NM_000377.2):c.274-3C>T - WAS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 2 - c.391G>A r.(?) p.(Glu131Lys) - likely benign, VUS g.48544153G>A g.48685764G>A WAS(NM_000377.2):c.391G>A (p.E131K) - WAS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.396C>T r.(?) p.(Asp132=) - likely benign g.48544158C>T g.48685769C>T WAS(NM_000377.2):c.396C>T (p.D132=) - WAS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.413G>A r.(?) p.(Arg138Gln) - likely benign g.48544175G>A g.48685786G>A WAS(NM_000377.2):c.413G>A (p.R138Q) - WAS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.420C>T r.(?) p.(Leu140=) - likely benign g.48544182C>T g.48685793C>T WAS(NM_000377.2):c.420C>T (p.L140=) - WAS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.469C>A r.(?) p.(Arg157Ser) - likely benign g.48544340C>A g.48685951C>A WAS(NM_000377.2):c.469C>A (p.R157S) - WAS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.490A>C r.(?) p.(Thr164Pro) - likely benign g.48544361A>C g.48685972A>C WAS(NM_000377.2):c.490A>C (p.T164P) - WAS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 3 - c.538C>A r.(?) p.(His180Asn) - likely benign, VUS g.48544502C>A g.48686113C>A WAS(NM_000377.2):c.538C>A (p.H180N, p.(His180Asn)) - WAS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.548G>A r.(?) p.(Gly183Glu) - VUS g.48544512G>A g.48686123G>A WAS(NM_000377.2):c.548G>A (p.G183E) - WAS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.559+5G>A r.spl? p.? - VUS g.48544528G>A g.48686139G>A WAS(NM_000377.2):c.559+5G>A - WAS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.559+127A>G r.(=) p.(=) - VUS g.48544650A>G g.48686261A>G - - WAS_000001 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.706G>A r.(?) p.(Ala236Thr) - likely pathogenic (recessive) g.48545316G>A g.48686927G>A - - WAS_000054 - PubMed: Gernez 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.712A>G r.(?) p.(Ile238Val) - VUS g.48545322A>G g.48686933A>G WAS(NM_000377.2):c.712A>G (p.I238V) - WAS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.778-11C>T r.(=) p.(=) - likely benign g.48546678C>T g.48688289C>T WAS(NM_000377.2):c.778-11C>T - WAS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.778-2A>G r.spl? p.? - pathogenic g.48546687A>G g.48688298A>G WAS(NM_000377.2):c.778-2A>G - WAS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 9 c.820G>A r.(?) p.(Ala274Thr) - VUS g.48546731G>A g.48688342G>A g.9546G>A - WAS_000005 - - - - Somatic - - - - - Silvia Bresolin
-?/. 1 - c.850G>A r.(?) p.(Ala284Thr) - likely benign g.48546761G>A g.48688372G>A WAS(NM_000377.2):c.850G>A (p.A284T) - WAS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.925C>T r.(?) p.(Arg309Cys) - benign g.48546836C>T g.48688447C>T WAS(NM_000377.2):c.925C>T (p.R309C) - WAS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.995T>C r.(?) p.(Val332Ala) - likely benign, VUS g.48547112T>C g.48688723T>C WAS(NM_000377.2):c.995T>C (p.(Val332Ala), p.V332A) - WAS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.1049C>T r.(?) p.(Ala350Val) - likely benign g.48547166C>T - WAS(NM_000377.2):c.1049C>T (p.A350V) - WAS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1058del r.(?) p.(Pro353HisfsTer92) - pathogenic g.48547175del g.48688786del WAS(NM_000377.2):c.1058delC (p.P353Hfs*92) - WAS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1190C>T r.(?) p.(Pro397Leu) - likely benign g.48547307C>T g.48688918C>T WAS(NM_000377.2):c.1190C>T (p.P397L) - WAS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1200G>A r.(?) p.(Pro400=) - VUS g.48547317G>A g.48688928G>A WAS(NM_000377.2):c.1200G>A (p.P400=) - WAS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1219G>A r.(?) p.(Gly407Arg) - likely benign g.48547336G>A g.48688947G>A WAS(NM_000377.2):c.1219G>A (p.G407R) - WAS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1280C>T r.(?) p.(Pro427Leu) - likely benign g.48547397C>T g.48689008C>T WAS(NM_000377.2):c.1280C>T (p.P427L) - WAS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1299G>A r.(?) p.(Ala433=) - benign g.48547416G>A g.48689027G>A WAS(NM_000377.2):c.1299G>A (p.A433=) - WAS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1338+1G>A r.spl? p.? - VUS g.48547456G>A g.48689067G>A WAS(NM_000377.2):c.1338+1G>A - WAS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.1378C>T r.(?) p.(Pro460Ser) - benign, likely benign g.48547748C>T g.48689359C>T WAS(NM_000377.2):c.1378C>T (p.P460S, p.(Pro460Ser)) - WAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1453+16C>T r.(=) p.(=) - likely benign g.48547839C>T g.48689450C>T WAS(NM_000377.2):c.1453+16C>T - WAS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.1453+268C>T r.(=) p.(=) - VUS g.48548091C>T g.48689702= - - WAS_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1455C>T r.(?) p.(Asp485=) - likely benign g.48549499C>T g.48691108C>T WAS(NM_000377.2):c.1455C>T (p.D485=) - WAS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1466A>G r.(?) p.(Asp489Gly) - likely benign, VUS g.48549510A>G g.48691119A>G WAS(NM_000377.2):c.1466A>G (p.D489G, p.(Asp489Gly)) - WAS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1490A>G r.(?) p.(Asp497Gly) - VUS g.48549534A>G g.48691143A>G WAS(NM_000377.2):c.1490A>G (p.D497G) - WAS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1508G>A r.(?) p.(Ter503=) - likely benign g.48549552G>A g.48691161G>A WAS(NM_000377.2):c.1508G>A (p.*503=) - WAS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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