All variants in the GPM6B gene

Information The variants shown are described using the NM_001001995.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
?/. _1 c.-115832A>G r.(=) p.(=) - VUS g.13950855T>C g.13932736T>C - - GPM6B_000007 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs6654096 Germline - - - - - Johan den Dunnen
?/. _1 c.-99010C>T r.(=) p.(=) - VUS g.13934033G>A g.13915914G>A - - GPM6B_000006 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs5979998 Germline - - - - - Johan den Dunnen
?/. _1 c.-82810C>T r.(=) p.(=) - VUS g.13917833G>A g.13899714G>A - - GPM6B_000005 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs4830513 Germline - - - - - Johan den Dunnen
?/. _1 c.-81931C>T r.(=) p.(=) - VUS g.13916954G>A g.13898835G>A - - GPM6B_000004 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs7890737 Germline - - - - - Johan den Dunnen
?/. _1 c.-56324C= r.(=) p.(=) - VUS g.13891347= g.13873228= - - GPM6B_000008 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs1005589 Germline - - - - - Johan den Dunnen
?/. _1 c.-15762G= r.(=) p.(=) - VUS g.13850785= g.13832666= - - GPM6B_000002 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs11095629 Germline - - - - - Johan den Dunnen
?/. 2i c.182-33G>A r.(?) p.(=) - VUS g.13803960C>T g.13785841C>T - - GPM6B_000003 associated with reduced HbF levels PubMed: Sebastiani 2008 - rs5978663 Germline - - - - - Johan den Dunnen
?/. - c.220C>T r.(?) p.(Pro74Ser) - VUS g.13803889G>A g.13785770G>A - - GPM6B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 c.225C>T r.(=) p.(Tyr75=) - likely benign g.13803884G>A g.13785765G>A NM_005278.3:c.105C>T (Y35Y) - GPM6B_000001 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. - c.295C>T r.(?) p.(Leu99Phe) - VUS g.13803814G>A g.13785695G>A GPM6B(NM_001001994.1):c.118C>T (p.(Leu40Phe)) - GPM6B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.363C>T r.(?) p.(Ser121=) - likely benign g.13803746G>A - GPM6B(NM_001001996.2):c.363C>T (p.S121=) - GPM6B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.528C>T r.(?) p.(Phe176=) - VUS g.13798106G>A g.13779987G>A GPM6B(NM_001001994.1):c.351C>T (p.(=)) - GPM6B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.670_672del r.(?) p.(Gln224del) - VUS g.13797964_13797966del g.13779845_13779847del GPM6B(NM_001001994.1):c.493_495del (p.(Gln165del)) - GPM6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.696C>T r.(?) p.(Tyr232=) - likely benign g.13797938G>A g.13779819G>A GPM6B(NM_001001994.1):c.519C>T (p.(=)) - GPM6B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.733T>A r.(?) p.(Cys245Ser) - likely benign g.13795509A>T - GPM6B(NM_001001996.2):c.733T>A (p.C245S) - GPM6B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.837+2dup r.spl? p.? - VUS g.13794355dup g.13776236dup - - GPM6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.898C>G r.(?) p.(Gln300Glu) - likely benign g.13791089G>C - GPM6B(NM_001001995.3):c.898C>G (p.Q300E) - OFD1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.909G>C r.(?) p.(Gln303His) - VUS g.13791078C>G g.13772959C>G GPM6B(NM_001001995.3):c.909G>C (p.Q303H) - OFD1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1651A>C r.(=) p.(=) - VUS g.13789349T>G g.13771230T>G - - GPM6B_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*1651A>C r.(=) p.(=) - VUS g.13789349T>G g.13771230T>G - - GPM6B_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*3782G>C r.(=) p.(=) - VUS g.13787218C>G - OFD1(NM_001330210.1):c.2610C>G (p.D870E) - OFD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*4079_*4080del r.(=) p.(=) - benign g.13786924_13786925del g.13768805_13768806del OFD1(NM_003611.3):c.2996+20_2996+21delAC - OFD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*4079_*4080del r.(=) p.(=) - likely benign g.13786924_13786925del - OFD1(NM_003611.3):c.2996+20_2996+21delAC - OFD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*4086A>G r.(=) p.(=) - likely benign g.13786914T>C - OFD1(NM_001330210.1):c.2576+10T>C - OFD1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*4126T>A r.(=) p.(=) - VUS g.13786874A>T g.13768755A>T - - OFD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*4154T>G r.(=) p.(=) - VUS g.13786846A>C g.13768727A>C OFD1(NM_001330210.1):c.2518A>C (p.K840Q) - OFD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*4181G>A r.(=) p.(=) - benign g.13786819C>T g.13768700C>T OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T - OFD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*4181G>A r.(=) p.(=) - benign g.13786819C>T g.13768700C>T OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T - OFD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*4181G>A r.(=) p.(=) - benign g.13786819C>T g.13768700C>T OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T - OFD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*4181G>A r.(=) p.(=) - benign g.13786819C>T g.13768700C>T OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T - OFD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*4644A>G r.(=) p.(=) - likely benign g.13786356T>C g.13768237T>C OFD1(NM_003611.3):c.2928+13T>C - OFD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*4880T>G r.(=) p.(=) - benign g.13786120A>C g.13768001A>C OFD1(NM_003611.3):c.2758-53A>C - OFD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*5594dup r.(?) p.(=) - likely benign g.13785407dup - OFD1(NM_001330210.1):c.2337+4dupA - OFD1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*5663C>A r.(=) p.(=) - likely benign g.13785337G>T - OFD1(NM_001330210.1):c.2271G>T (p.R757S) - OFD1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*5691T>G r.(=) p.(=) - benign g.13785309A>C g.13767190A>C OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T) - OFD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*5691T>G r.(=) p.(=) - benign g.13785309A>C g.13767190A>C OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T) - OFD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5691T>G r.(=) p.(=) - VUS g.13785309A>C g.13767190A>C OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T) - OFD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*5691T>G r.(=) p.(=) - benign g.13785309A>C g.13767190A>C OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T) - OFD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*5707G>A r.(=) p.(=) - likely benign g.13785293C>T - OFD1(NM_001330210.1):c.2227C>T (p.R743W) - OFD1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*5716C>T r.(=) p.(=) - benign g.13785284G>A - OFD1(NM_003611.3):c.2638G>A (p.E880K) - OFD1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*5719C>T r.(=) p.(=) - benign g.13785281G>A - OFD1(NM_003611.3):c.2635G>A (p.E879K) - OFD1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*5722C>T r.(=) p.(=) - benign g.13785278G>A - OFD1(NM_003611.3):c.2632G>A (p.E878K) - OFD1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*5731C>T r.(=) p.(=) - benign g.13785269G>A - OFD1(NM_003611.3):c.2623G>A (p.E875K) - OFD1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*5734C>G r.(=) p.(=) - benign g.13785266G>C - OFD1(NM_003611.3):c.2620G>C (p.E874Q) - OFD1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*5744C>G r.(=) p.(=) - benign g.13785256G>C - OFD1(NM_003611.3):c.2610G>C (p.Q870H) - OFD1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*5755C>G r.(=) p.(=) - VUS g.13785245G>C - - - OFD1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*5757_*5760dup r.(=) p.(=) - VUS g.13785240_13785243dup - OFD1(NM_001330210.1):c.2180-4_2180-1dupTTTA - OFD1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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