Full data view for gene SH2B3

Information The variants shown are described using the NM_005475.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-28+5G>A r.spl? p.? Unknown - likely benign g.111844086G>A - SH2B3(NM_005475.2):c.-28+5G>A - SH2B3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-28+5G>A r.spl? p.? Unknown - likely benign g.111844086G>A - SH2B3(NM_005475.2):c.-28+5G>A - SH2B3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27-18C>A r.(=) p.(=) Unknown - likely benign g.111855905C>A - SH2B3(NM_005475.2):c.-27-18C>A - SH2B3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10C>G r.(?) p.(Pro4Ala) Unknown - VUS g.111855959C>G g.111418155C>G SH2B3(NM_005475.2):c.10C>G (p.(Pro4Ala)) - SH2B3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108G>C r.(?) p.(Ala36=) Unknown - likely benign g.111856057G>C g.111418253G>C SH2B3(NM_005475.2):c.108G>C (p.A36=) - SH2B3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122T>C r.(?) p.(Leu41Pro) Unknown - VUS g.111856071T>C g.111418267T>C SH2B3(NM_005475.2):c.122T>C (p.L41P) - SH2B3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown - VUS g.111856076C>T g.111418272C>T SH2B3(NM_005475.2):c.127C>T (p.R43C, p.(Arg43Cys)) - SH2B3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown - likely benign g.111856076C>T g.111418272C>T SH2B3(NM_005475.2):c.127C>T (p.R43C, p.(Arg43Cys)) - SH2B3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148C>T r.(?) p.(Arg50Trp) Unknown - VUS g.111856097C>T g.111418293C>T SH2B3(NM_005475.2):c.148C>T (p.R50W) - SH2B3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.156T>G r.(?) p.(His52Gln) Unknown - VUS g.111856105T>G g.111418301T>G SH2B3(NM_005475.2):c.156T>G (p.H52Q) - SH2B3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Glu78Lys) Unknown - VUS g.111856181G>A g.111418377G>A SH2B3(NM_005475.2):c.232G>A (p.E78K) - SH2B3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.238C>T r.(?) p.(Arg80Cys) Unknown - benign g.111856187C>T - SH2B3(NM_005475.2):c.238C>T (p.R80C) - SH2B3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256G>A r.(?) p.(Gly86Ser) Unknown - VUS g.111856205G>A - SH2B3(NM_005475.2):c.256G>A (p.G86S) - SH2B3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339T>C r.(?) p.(Pro113=) Unknown - likely benign g.111856288T>C g.111418484T>C SH2B3(NM_005475.2):c.339T>C (p.P113=) - SH2B3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382C>T r.(?) p.(Arg128Trp) Unknown - likely benign g.111856331C>T g.111418527C>T SH2B3(NM_005475.2):c.382C>T (p.R128W) - SH2B3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Arg143=) Unknown - likely benign g.111856378C>T g.111418574C>T SH2B3(NM_005475.2):c.429C>T (p.R143=) - SH2B3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>T r.(?) p.(Pro155Leu) Unknown - VUS g.111856413C>T g.111418609C>T SH2B3(NM_005475.2):c.464C>T (p.P155L) - SH2B3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.489del r.(?) p.(Thr165ProfsTer32) Unknown - VUS g.111856438del g.111418634del SH2B3(NM_005475.3):c.489delC (p.T165Pfs*32) - SH2B3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622G>C r.(?) p.(Glu208Gln) Unknown - VUS g.111856571G>C g.111418767G>C SH2B3(NM_005475.2):c.622G>C (p.E208Q, p.(Glu208Gln)), SH2B3(NM_005475.3):c.622G>C (p.E208Q) - SH2B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622G>C r.(?) p.(Glu208Gln) Unknown - VUS g.111856571G>C g.111418767G>C SH2B3(NM_005475.2):c.622G>C (p.E208Q, p.(Glu208Gln)), SH2B3(NM_005475.3):c.622G>C (p.E208Q) - SH2B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622G>C r.(?) p.(Glu208Gln) Unknown - VUS g.111856571G>C - SH2B3(NM_005475.2):c.622G>C (p.E208Q, p.(Glu208Gln)), SH2B3(NM_005475.3):c.622G>C (p.E208Q) - SH2B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622G>C r.(?) p.(Glu208Gln) Unknown - VUS g.111856571G>C - SH2B3(NM_005475.2):c.622G>C (p.E208Q, p.(Glu208Gln)), SH2B3(NM_005475.3):c.622G>C (p.E208Q) - SH2B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622G>C r.(?) p.(Glu208Gln) Unknown - likely benign g.111856571G>C - SH2B3(NM_005475.2):c.622G>C (p.E208Q, p.(Glu208Gln)), SH2B3(NM_005475.3):c.622G>C (p.E208Q) - SH2B3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.694G>C r.(?) p.(Gly232Arg) Unknown - VUS g.111856643G>C - SH2B3(NM_005475.3):c.694G>C (p.G232R) - SH2B3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.733-11747_733-11745del r.(=) p.(=) Unknown - VUS g.111872810_111872812del g.111435006_111435008del SH2B3(NM_001291424.1):c.105_107delTCT (p.L36del) - SH2B3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733-10G>C r.(=) p.(=) Unknown - likely benign g.111884547G>C - SH2B3(NM_005475.2):c.733-10G>C - SH2B3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848C>A r.(?) p.(Thr283Lys) Unknown - VUS g.111884759C>A g.111446955C>A SH2B3(NM_005475.2):c.848C>A (p.T283K) - SH2B3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901G>A r.(?) p.(Glu301Lys) Unknown - VUS g.111884812G>A g.111447008G>A SH2B3(NM_005475.2):c.901G>A (p.E301K) - SH2B3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1022-10_1022-6del r.(=) p.(=) Unknown - likely benign g.111885124_111885128del - SH2B3(NM_005475.2):c.1022-10_1022-6delTATCT - ATXN2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1050G>A r.(?) p.(Pro350=) Unknown - likely benign g.111885162G>A - SH2B3(NM_005475.2):c.1050G>A (p.P350=) - ATXN2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075C>T r.(?) p.(Leu359=) Unknown - likely benign g.111885187C>T g.111447383C>T SH2B3(NM_005475.2):c.1075C>T (p.L359=) - ATXN2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1183G>A r.(?) p.(Glu395Lys) Unknown - VUS g.111885295G>A - SH2B3(NM_005475.3):c.1183G>A (p.E395K) - ATXN2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1183G>A r.(?) p.(Glu395Lys) Unknown - likely pathogenic g.111885295G>A - SH2B3(NM_005475.3):c.1183G>A (p.E395K) - ATXN2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188G>A r.(?) p.(Thr396=) Unknown - likely benign g.111885300G>A - SH2B3(NM_005475.2):c.1188G>A (p.T396=) - ATXN2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236+19_1236+28del r.(=) p.(=) Unknown - likely benign g.111885367_111885376del - SH2B3(NM_005475.2):c.1236+19_1236+28delTGGGGTGGGG - ATXN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1236+24_1236+28del r.(=) p.(=) Unknown - benign g.111885372_111885376del g.111447568_111447572del SH2B3(NM_005475.2):c.1236+24_1236+28delTGGGG - SH2B3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236+24_1236+28del r.(=) p.(=) Unknown - likely benign g.111885372_111885376del g.111447568_111447572del SH2B3(NM_005475.2):c.1236+24_1236+28delTGGGG - SH2B3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236+24_1236+28dup r.(=) p.(=) Unknown - likely benign g.111885372_111885376dup g.111447568_111447572dup SH2B3(NM_005475.2):c.1236+24_1236+28dupTGGGG - ATXN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236+24_1236+28dup r.(=) p.(=) Unknown - likely benign g.111885372_111885376dup - SH2B3(NM_005475.2):c.1236+24_1236+28dupTGGGG - ATXN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1243C>T r.(?) p.(Arg415Cys) Unknown - VUS g.111885466C>T - SH2B3(NM_005475.3):c.1243C>T (p.R415C) - ATXN2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1351G>A r.(?) p.(Gly451Ser) Unknown - VUS g.111885574G>A g.111447770G>A SH2B3(NM_005475.2):c.1351G>A (p.G451S) - ATXN2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368C>T r.(?) p.(Val456=) Unknown - likely benign g.111885591C>T - SH2B3(NM_005475.2):c.1368C>T (p.V456=) - ATXN2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1426C>T r.(?) p.(Leu476Phe) Unknown - VUS g.111885804C>T - SH2B3(NM_005475.2):c.1426C>T (p.L476F, p.(Leu476Phe)) - ATXN2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1426C>T r.(?) p.(Leu476Phe) Unknown - likely benign g.111885804C>T - SH2B3(NM_005475.2):c.1426C>T (p.L476F, p.(Leu476Phe)) - ATXN2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1454_1477del r.(?) p.(Asp485_Trp492del) Unknown - likely benign g.111885832_111885855del g.111448028_111448051del SH2B3(NM_005475.2):c.1454_1477delATTCAGAGTCCCTTCCTCACTGGG (p.D485_W492del) - ATXN2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1478G>C r.(?) p.(Gly493Ala) Unknown - likely benign g.111885856G>C g.111448052G>C SH2B3(NM_005475.2):c.1478G>C (p.G493A) - ATXN2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501C>T r.(?) p.(Leu501Phe) Unknown - likely benign g.111885879C>T - SH2B3(NM_005475.2):c.1501C>T (p.L501F) - ATXN2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1514G>A r.(?) p.(Gly505Asp) Unknown - likely benign g.111885892G>A - SH2B3(NM_005475.2):c.1514G>A (p.G505D) - ATXN2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596C>T r.(?) p.(Pro532=) Unknown - likely benign g.111885974C>T - SH2B3(NM_005475.2):c.1596C>T (p.P532=) - ATXN2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1606G>A r.(?) p.(Ala536Thr) Unknown - likely benign g.111885984G>A - SH2B3(NM_005475.2):c.1606G>A (p.A536T) - ATXN2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641G>A r.(?) p.(=) Unknown - likely benign g.111886019G>A - SH2B3(NM_005475.2):c.1641G>A (p.V547=) - ATXN2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1651C>T r.(?) p.(Arg551Trp) Unknown - VUS g.111886029C>T g.111448225C>T SH2B3(NM_005475.3):c.1651C>T (p.R551W) - ATXN2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1696C>T r.(?) p.(Arg566Trp) Unknown - VUS g.111886074C>T - SH2B3(NM_005475.3):c.1696C>T (p.R566W) - ATXN2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1709A>C r.(?) p.(Asn570Thr) Unknown - VUS g.111886087A>C g.111448283A>C SH2B3(NM_005475.2):c.1709A>C (p.N570T) - ATXN2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7763C>T r.(=) p.(=) Unknown - likely benign g.111893869C>T g.111456065C>T ATXN2(NM_002973.3):c.3708G>A (p.A1236=) - ATXN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7878A>G r.(=) p.(=) Unknown - VUS g.111893984A>G g.111456180A>G ATXN2(NM_002973.3):c.3593T>C (p.L1198P) - ATXN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7966C>T r.(=) p.(=) Unknown - benign g.111894072C>T g.111456268C>T ATXN2(NM_002973.4):c.3037-12G>A - ATXN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7966C>T r.(=) p.(=) Unknown - likely benign g.111894072C>T g.111456268C>T ATXN2(NM_002973.4):c.3037-12G>A - ATXN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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