Full data view for gene ITGA2B

Information The variants shown are described using the NM_000419.3 transcript reference sequence.

280 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
?/. 30 c.*165T>C r.(?) p.? - Both (homozygous) - VUS g.42449567A>G g.44372199A>G - - ITGA2B_000101 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT75 PubMed: Nurden 2015 patient, no affected relatives F no France Africa - - - - 1 Johan den Dunnen
+/. 1 c.91del r.(?) p.(Ala31ProfsTer2) - Parent #1 - pathogenic (recessive) g.42466753del g.44389385del - - ITGA2B_000139 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT41a PubMed: Nurden 2015 2-generation family, affected sister/brither F no Canada;China - - - - - 2 Johan den Dunnen
+/. 1 c.91del r.(?) p.(Ala31ProfsTer2) - Parent #1 - pathogenic (recessive) g.42466753del g.44389385del - - ITGA2B_000139 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT41b PubMed: Nurden 2015 brother M no Canada;China - - - - - 1 Johan den Dunnen
+?/. 1 c.131G>T r.(?) p.(Gly44Val) - Parent #1 - likely pathogenic (recessive) g.42466711C>A g.44389343C>A - - ITGA2B_000138 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT36a PubMed: Nurden 2015 2-generation family, 3 affected (2F, M) F no Spain - - - - - 3 Johan den Dunnen
+?/. 1 c.131G>T r.(?) p.(Gly44Val) - Parent #1 - likely pathogenic (recessive) g.42466711C>A g.44389343C>A - - ITGA2B_000138 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT36b PubMed: Nurden 2015 brother M no Spain - - - - - 1 Johan den Dunnen
+?/. 1 c.131G>T r.(?) p.(Gly44Val) - Parent #1 - likely pathogenic (recessive) g.42466711C>A g.44389343C>A - - ITGA2B_000138 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT36c PubMed: Nurden 2015 sister F no Spain - - - - - 1 Johan den Dunnen
?/. - c.188+8del r.spl? p.? - Parent #1 - VUS g.42466646del g.44389278del 188+8delG - ITGA2B_000176 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT14 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.245dup r.(?) p.(Gly83ArgfsTer20) - Both (homozygous) - pathogenic (recessive) g.42463445dup g.44386077dup 243dupG - ITGA2B_000090 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT06 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+?/. 2 c.257T>C r.(?) p.(Leu86Pro) - Parent #1 - likely pathogenic (recessive) g.42463431A>G g.44386063A>G - - ITGA2B_000137 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT64 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - 1 Johan den Dunnen
+/. 2i_12i c.(310+1_311-1)_(1210+1_1211-1)dup r.? p.? - Both (homozygous) - pathogenic (recessive) g.(42458430_42460860)_(42463290_42463377)dup g.(44381062_44383492)_(44385922_44386009)dup dup ex3-12 - ITGA2B_000123 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT28 PubMed: Nurden 2015 2-generation family, 2 affected sisters M yes France;Syria - 36 - - - 2 Johan den Dunnen
+?/. 3i c.408+11C>A r.spl? p.? - Parent #1 - likely pathogenic (recessive) g.42463181G>T g.44385813G>T - - ITGA2B_000136 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT22 PubMed: Nurden 2015 - M no France - - - - - 1 Johan den Dunnen
+/. 3i_4 c.409-3_418del r.409_426del p.Ala137_Gln142del - Both (homozygous) - pathogenic (recessive) g.42463076_42463088del g.44385708_44385720del 410-427del - ITGA2B_000088 - PubMed: Newman 1991 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT family PubMed: Newman 1991 family - - Israel Arab - - - - 1 Johan den Dunnen
+/. 3i_4 c.409-3_418del r.409_426del p.Ala137_Gln142del - Both (homozygous) - pathogenic (recessive) g.42463076_42463088del g.44385708_44385720del 410-427del - ITGA2B_000088 - PubMed: Newman 1991 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT family PubMed: Newman 1991 family - - Israel Arab - - - - 1 Johan den Dunnen
+/. 3i_4 c.409-3_418del r.409_426del p.Ala137_Gln142del - Both (homozygous) - pathogenic (recessive) g.42463076_42463088del g.44385708_44385720del 410-427del - ITGA2B_000088 - PubMed: Newman 1991 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT family PubMed: Newman 1991 family - - Israel Arab - - - - 1 Johan den Dunnen
+/. 3i_4 c.409-3_418del r.(?) p.? - Both (homozygous) - pathogenic (recessive) g.42463076_42463088del g.44385708_44385720del IVS3(-3)418del - ITGA2B_000088 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT FN PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.416C>T r.(?) p.(Ala139Val) - Both (homozygous) - pathogenic (recessive) g.42463077G>A g.44385709G>A - - ITGA2B_000089 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT22 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.416C>T r.(?) p.(Ala139Val) - Both (homozygous) - pathogenic (recessive) g.42463077G>A g.44385709G>A - - ITGA2B_000089 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT PF PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+?/. 4 c.423G>T r.(?) p.(Trp141Cys) - Parent #1 - likely pathogenic (recessive) g.42463070C>A g.44385702C>A - - ITGA2B_000135 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT14 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - 1 Johan den Dunnen
+/. 4 c.432G>A r.(?) p.(Trp144Ter) - Parent #1 ACMG pathogenic (recessive) g.42463061C>T g.44385693C>T - - ITGA2B_000175 ACMG PVS1, PM2, PM3, PM4; no variant second chromosome PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT34 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
-/. - c.439C>G r.(?) p.(Leu147Val) - Unknown - benign g.42463054G>C - ITGA2B(NM_000419.5):c.439C>G (p.L147V) - ITGA2B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457G>A r.(?) p.(Ala153Thr) - Unknown - likely benign g.42463036C>T g.44385668C>T ITGA2B(NM_000419.3):c.457G>A (p.A153T) - ITGA2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.460_462del r.(?) p.(Glu154del) - Parent #2 ACMG pathogenic (recessive) g.42463031_42463033del g.44385663_44385665del 460_462delGAG - ITGA2B_000174 ACMG PVS1, PM1, PM2 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT32 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
-?/. - c.487T>C r.(?) p.(Leu163=) - Unknown - likely benign g.42463006A>G g.44385638A>G ITGA2B(NM_000419.3):c.487T>C (p.L163=) - ITGA2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.526C>G r.(?) p.(Pro176Ala) - Unknown - pathogenic g.42462967G>C - ITGA2B(NM_000419.3):c.526C>G (p.P176A) - ITGA2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.526C>G r.(?) p.(Pro176Ala) - Unknown - pathogenic g.42462967G>C - ITGA2B(NM_000419.3):c.526C>G (p.P176A) - ITGA2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.526C>G r.(?) p.(Pro176Ala) - Parent #1 - pathogenic (recessive) g.42462967G>C g.44385599G>C - - ITGA2B_000013 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT MR PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+/. - c.526C>G r.(?) p.(Pro176Ala) - Both (homozygous) - pathogenic (recessive) g.42462967G>C g.44385599G>C C>G Pro145Ala - ITGA2B_000013 - PubMed: Basani 2000 - - Germline - - - - - DNA SEQ - - GT Fam1PatLW PubMed: Basani 2000 family F - United States Mennonite - - - - 1 Johan den Dunnen
+/. - c.526C>G r.(?) p.(Pro176Ala) - Both (homozygous) - pathogenic (recessive) g.42462967G>C g.44385599G>C C>G Pro145Ala - ITGA2B_000013 - PubMed: Basani 2000 - - Germline - - - - - DNA SEQ - - GT Fam2PatGW PubMed: Basani 2000 family M - United States Mennonite - - - - 1 Johan den Dunnen
+/. - c.526C>G r.(?) p.(Pro176Ala) - Parent #1 - pathogenic (recessive) g.42462967G>C g.44385599G>C C>G Pro145Ala - ITGA2B_000013 no variant 2nd chromosome PubMed: Basani 2000 - - Germline - - - - - DNA SEQ - - GT Fam3PatJF PubMed: Basani 2000 family M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.527C>T r.(?) p.(Pro176Leu) - Parent #1 - pathogenic (recessive) g.42462966G>A g.44385598G>A C>T Pro145Leu - ITGA2B_000029 - PubMed: Basani 2000 - - Germline - - - - - DNA SEQ, SSCA - - GT Chinese-14 PubMed: Basani 2000 family M - China - - - - - 1 Johan den Dunnen
+/. 4 c.531T>A r.(?) p.(Cys177Ter) - Both (homozygous) - pathogenic (recessive) g.42462962A>T g.44385594A>T - - ITGA2B_000087 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-1 PubMed: Jallu 2010 patient - - China - - - - - 1 Johan den Dunnen
+/. 4 c.551_626del p.Arg184_Gln208del p.(Arg184ProfsTer15) - Parent #1 - pathogenic (recessive) g.42462577_42462943del g.44385209_44385575del 550_625del - ITGA2B_000131 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT45 PubMed: Nurden 2015 - M no France - - - - - 1 Johan den Dunnen
?/. - c.559del r.(?) p.(Val187TrpfsTer37) - Unknown - pathogenic (recessive) g.42462934del g.44385566del 559delG - ITGA2B_000173 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT62 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. 4 c.571T>G r.(571_574del,571T>G) p.(Phe191AlafsTer32,Phe191Val) - Parent #1 - likely pathogenic (recessive) g.42462922A>C g.44385554A>C - - ITGA2B_000134 effect on splicing predicted from mini-gene splicing assay PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT57 PubMed: Nurden 2015 patient, no affected relatives F no Argentina Europe - - - - 1 Johan den Dunnen
+/. 4i c.574+1G>A r.spl p.? - Parent #1 - pathogenic (recessive) g.42462918C>T g.44385550C>T - - ITGA2B_000133 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT65 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - 1 Johan den Dunnen
+/. 5 c.575-1_575insGGACAA r.574_575insGGACAA p.Phe191_Ser192insArgThr KO Both (homozygous) - likely pathogenic (recessive) g.42462703_42462704insTTGTCC g.44385335_44385336insTTGTCC F160_S161insRT - ITGA2B_000051 - PubMed: Honda 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT patient PubMed: Honda 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
+/. - c.575-1_575insGGACAA - p.Phe191_Ser192insArgThr - Unknown - NA g.42462703_42462704insTTGTCC g.44385335_44385336insTTGTCC - - ITGA2B_000051 in vitro expression analysis shows complete loss of PAC-1 binding, reduced binding to soluble fibrinogen after activation and spreading on fibrinogen-coated plates, affects integrin activation PubMed: Kosaka 2025 - - In vitro (cloned) - - - - - DNA SEQ - - GT1 KO PubMed: Kosaka 2025 - - - Japan - - - - - 1 Johan den Dunnen
+/. 4i_6i c.(574+1_575-1)_(670+1_671-1)del r.? p.? - Parent #2 - pathogenic (recessive) g.(42462445_42462531)_(42462704_42462918)del g.(44385077_44385163)_(44385336_44385550)del del ex5-6 - ITGA2B_000129 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT45 PubMed: Nurden 2015 - M no France - - - - - 1 Johan den Dunnen
?/. - c.584A>C r.(?) p.(Lys195Thr) HPA-22 Paternal (inferred) - pathogenic (paternal) g.42462694T>G g.44385326T>G - - ITGA2B_000048 - - - - Germline - - - - - DNA SEQ - - FMAIT2 patient - - - - - - - - - - 1 Johan den Dunnen
-/. - c.599C>T - p.Ala200Val - Unknown - NA g.42462679G>A g.44385311G>A - - ITGA2B_000141 in vitro expression analysis shows normal αIIb and β3 surface expression and normal PAC-1 binding following activation PubMed: Kosaka 2025 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.601G>A r.(?) p.(Gly201Ser) - Both (homozygous) - likely pathogenic (recessive) g.42462677C>T g.44385309C>T - - ITGA2B_000132 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT52 PubMed: Nurden 2015 patient, no affected relatives M no Argentina;Brazil - - - - - 1 Johan den Dunnen
+?/. 5 c.601G>A r.(?) p.(Gly201Ser) - Both (homozygous) - likely pathogenic (recessive) g.42462677C>T g.44385309C>T - - ITGA2B_000132 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT58 PubMed: Nurden 2015 patient, no affected relatives M no Argentina Europe - - - - 1 Johan den Dunnen
+/. - c.601G>A - p.Gly201Ser - Unknown - NA g.42462677C>T g.44385309C>T - - ITGA2B_000132 in vitro expression analysis shows abolished αIIb surface expression; authors suggest classification of variant as "pathogenic" PubMed: Kosaka 2025, - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.602G>C - p.Gly201Ala - Unknown - NA g.42462676C>G g.44385308C>G - - ITGA2B_000140 in vitro expression analysis shows abolished αIIb and β3 surface expression and no PAC-1 binding following activation; authors suggest classification of variant as "pathogenic" PubMed: Kosaka 2025 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.624+2C>A r.[0,624_625ins[GA;624+3_625-1]] p.[0,Ala209GlufsTer72] - Paternal (confirmed) - pathogenic (recessive) g.42462652G>T g.44385284G>T IVS5+2C>A - ITGA2B_000036 mRNA expression strongly reduced (NMD) PubMed: Gonzalez-Manchon 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - GT patient PubMed: Gonzalez-Manchon 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - 1 Johan den Dunnen
?/. 5i c.625-22A>C r.(624_625ins625-14_625-1) p.? - Both (homozygous) - VUS g.42462599T>G g.44385231T>G 575-22A>C - ITGA2B_000086 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT14 PubMed: Peretz 2006 family, 2 affected sibs F - India - - - - - 2 Johan den Dunnen
+/. 5i c.625-1G>A r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.42462578C>T g.44385210C>T - - ITGA2B_000172 ACMG PVS1, PM3, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT35 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
+/. - c.641T>C r.(?) p.(Leu214Pro) - Unknown - pathogenic (recessive) g.42462561A>G g.44385193A>G - - ITGA2B_000171 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT12 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.641T>C r.(?) p.(Leu214Pro) - Unknown - pathogenic (recessive) g.42462561A>G g.44385193A>G - - ITGA2B_000171 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT26 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.641T>C r.(?) p.(Leu214Pro) - Unknown - pathogenic (recessive) g.42462561A>G g.44385193A>G - - ITGA2B_000171 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT68 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. 6 c.647C>T r.(?) p.(Ala216Val) - Both (homozygous) - likely pathogenic (recessive) g.42462555G>A g.44385187G>A - - ITGA2B_000130 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT55 PubMed: Nurden 2015 2-generation family, 2 affected sisters F no Argentina;Brazil - - - - - 2 Johan den Dunnen
+?/. 6 c.659A>G r.(?) p.(Tyr220Cys) - Parent #2 ACMG likely pathogenic (recessive) g.42462543T>C g.44385175T>C - - ITGA2B_000170 ACMG PM1, PM2, PM3, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT35 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
+/. 7 c.682C>T r.(?) p.(Gln228Ter) - Parent #1 - pathogenic (recessive) g.42462433G>A .g44385065G>A 683C>T - ITGA2B_000085 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT29 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 7 c.682C>T r.(?) p.(Gln228Ter) - Parent #1 - pathogenic (recessive) g.42462433G>A g.44385065G>A - - ITGA2B_000085 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT13 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - 1 Johan den Dunnen
+/. 7 c.693dup r.(?) p.(Ala232CysfsTer24) - Both (homozygous) - pathogenic (recessive) g.42462423dup g.44385055dup 693Tins - ITGA2B_000084 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT ZM PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.727del r.(?) p.(Leu243PhefsTer136) - Both (homozygous) - pathogenic (recessive) g.42462389del g.44385021del 726delC - ITGA2B_000083 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT41 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+/. 7i c.799+2T>C r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.42462314A>G g.44384946A>G - - ITGA2B_000169 ACMG PVS1, PM3, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT17a PubMed: Zhou 2018 family, 2 affected cousins (deceased sister) F no China Han - - - - 2 Johan den Dunnen
+/. 7i c.800-2A>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.42461955T>C g.44384587T>C - - ITGA2B_000082 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT27 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+/. - c.800-2A>T r.spl p.? - Paternal (confirmed) - pathogenic (recessive) g.42461955T>A g.44384587T>A - - ITGA2B_000168 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT23 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. 8 c.800G>A r.spl? p.(Gly267Glu) - Parent #1 - pathogenic (recessive) g.42461953C>T g.44384585C>T - - ITGA2B_000081 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT DRP PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+?/. 8 c.812C>G r.(?) p.(Ala271Gly) - Parent #1 ACMG likely pathogenic (recessive) g.42461941G>C g.44384573G>C - - ITGA2B_000167 ACMG PM1, PM2, PP2, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT6 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
+/. 8 c.832del r.(?) p.(Asp278IlefsTer101) - Parent #1 - pathogenic (recessive) g.42461924del g.44384556del - - ITGA2B_000128 no variant 2nd chromosome PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT47 PubMed: Nurden 2015 patient, no affected relatives M yes France - - - - - 1 Johan den Dunnen
+/. 9 c.855dup r.(?) p.(Val286ArgfsTer43) - Parent #1 - pathogenic (recessive) g.42461715dup g.44384347dup 855Cins - ITGA2B_000080 no variant 2nd chromosome PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT FF PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
?/. 9 c.857T>A r.(?) p.(Val286Asp) - Both (homozygous) - VUS g.42461713A>T g.44384345A>T - - ITGA2B_000127 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT40 PubMed: Nurden 2015 - F yes Canada;Pakistan - - - - - 1 Johan den Dunnen
+/. 9 c.886G>A r.(?) p.(Gly296Arg) - Parent #2 - pathogenic (recessive) g.42461684C>T g.44384316C>T - - ITGA2B_000079 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT29 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+?/. 9 c.886G>A r.(?) p.(Gly296Arg) - Parent #1 ACMG likely pathogenic (recessive) g.42461684C>T g.44384316C>T - - ITGA2B_000079 ACMG PM1, PM2, PM3, PP3 PubMed: Zhou 2018 - rs753264426 Germline - - - - - DNA SEQ - - GT GT32 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
+/. 10 c.917dup r.(?) p.(Arg307GlufsTer22) - Parent #1 - pathogenic (recessive) g.42461481dup g.44384113dup 917dupA - ITGA2B_000078 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-2 PubMed: Jallu 2010 patient - - France - - - - - 1 Johan den Dunnen
+?/. - c.937G>A r.(?) p.(Gly313Arg) - Both (homozygous) - likely pathogenic (recessive) g.42461461C>T g.44384093C>T - - ITGA2B_000166 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT19 PubMed: Kannan 2009 family, 2 affected - - India - - - - - 2 Johan den Dunnen
+?/. 11 c.961G>T r.(?) p.(Gly321Trp) - Parent #2 - likely pathogenic (recessive) g.42461299C>A g.44383931C>A - - ITGA2B_000126 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT57 PubMed: Nurden 2015 patient, no affected relatives F no Argentina Europe - - - - 1 Johan den Dunnen
+?/. 11 c.962G>T r.(?) p.(Gly321Val) - Parent #2 ACMG likely pathogenic (recessive) g.42461298C>A g.44383930C>A - - ITGA2B_000165 ACMG PM1, PM2, PP2, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT40 PubMed: Zhou 2018 patient, no family history M no China Han - - - - 1 Johan den Dunnen
+/. - c.985G>T r.(?) p.(Val329Phe) - Maternal (confirmed) - pathogenic (recessive) g.42461275C>A g.44383907C>A 985G>T Val298Phe - ITGA2B_000032 - PubMed: Mitchell 2003 - - Germline - - - - - DNA SEQ - - GT PatM PubMed: Mitchell 2003 2-generation family, 1 affected, unaffected parents - no Canada;Puerto Rico - - - - - 1 Johan den Dunnen
+?/. 12 c.1022C>T r.(?) p.(Ala341Val) - Parent #1 ACMG likely pathogenic (recessive) g.42461049G>A g.44383681G>A - - ITGA2B_000164 ACMG PM1, PM2, PM3, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT31 PubMed: Zhou 2018 patient, no family history F no China Han - - - - 1 Johan den Dunnen
+?/. - c.1028T>C r.(?) p.(Leu343Pro) - Both (homozygous) - likely pathogenic (recessive) g.42461043A>G g.44383675A>G - - ITGA2B_000163 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT1 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. - c.1028T>C r.(?) p.(Leu343Pro) - Both (homozygous) - likely pathogenic (recessive) g.42461043A>G g.44383675A>G - - ITGA2B_000163 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT54 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. - c.1028T>C r.(?) p.(Leu343Pro) - Parent #1 - likely pathogenic (recessive) g.42461043A>G g.44383675A>G - - ITGA2B_000163 in cis with “promoter variant g.951G>A” (location not clear) PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT58 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. - c.1028T>C r.(?) p.(Leu343Pro) - Parent #1 - likely pathogenic (recessive) g.42461043A>G g.44383675A>G - - ITGA2B_000163 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT69 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. - c.1028T>C r.(?) p.(Leu343Pro) - Maternal (confirmed) - likely pathogenic (recessive) g.42461043A>G g.44383675A>G - - ITGA2B_000163 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT18 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. 12 c.1051C>T r.(?) p.(Arg351Ter) - Parent #1 ACMG pathogenic (recessive) g.42461020G>A g.44383652G>A - - ITGA2B_000162 ACMG PVS1, PM1, PM2, PM4 PubMed: Zhou 2018 - rs1032879686 Germline - - - - - DNA SEQ - - GT GT1 PubMed: Zhou 2018 patient, no family history F no China Han - - - - 1 Johan den Dunnen
+/. - c.1063G>A r.(?) p.(Glu355Lys) - Maternal (confirmed) - pathogenic (recessive) g.42461008C>T g.44383640C>T 1064G>A - ITGA2B_000037 - PubMed: Ruan 1998 - - Germline - - - - - DNA SEQ, SSCA - - GT patient PubMed: Ruan 1998 3-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - - - - 1 Johan den Dunnen
+?/. 12 c.1073G>A r.(?) p.(Arg358His) - Parent #1 - likely pathogenic (recessive) g.42460998C>T g.44383630C>T - - ITGA2B_000125 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT11 PubMed: Nurden 2015 patient, no affected relatives F no France;Germany - - - - - 1 Johan den Dunnen
+?/. 12 c.1073G>A r.(?) p.(Arg358His) - Both (homozygous) - likely pathogenic (recessive) g.42460998C>T g.44383630C>T - - ITGA2B_000125 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT26 PubMed: Nurden 2015 patient, no affected relatives M yes France - - - - - 1 Johan den Dunnen
+/. - c.1073G>A r.(?) p.(Arg358His) - Unknown - pathogenic (recessive) g.42460998C>T g.44383630C>T - - ITGA2B_000125 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT45 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.1096C>T r.(?) p.(Arg366Ter) - Unknown - pathogenic g.42460975G>A g.44383607G>A - - ITGA2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1096C>T r.(?) p.(Arg366Ter) - Both (homozygous) - pathogenic (recessive) g.42460975G>A g.44383607G>A - - ITGA2B_000004 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT CT PubMed: D'Andrea 2002 patient F - Italy - - - - - 1 Johan den Dunnen
+/. 12 c.1139G>A r.(?) p.(Gly380Asp) - Parent #1 - pathogenic (recessive) g.42460932C>T g.44383564C>T - - ITGA2B_000077 no variant 2nd chromosome PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT GM PubMed: D'Andrea 2002 patient F - Italy - - - - - 1 Johan den Dunnen
+/. 12 c.1139G>T r.(?) p.(Gly380Val) - Both (homozygous) - pathogenic (recessive) g.42460932C>A g.44383564C>A - - ITGA2B_000076 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT GT28 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+?/. 12 c.1201G>T r.(?) p.(Gly401Cys) - Parent #1 - likely pathogenic (recessive) g.42460870C>A g.44383502C>A - - ITGA2B_000124 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT18 PubMed: Nurden 2015 patient, no affected relatives M no France - - - - - 1 Johan den Dunnen
+?/. - c.1210+4A>G r.spl? p.? - Maternal (confirmed) - likely pathogenic (recessive) g.42460857T>C g.44383489T>C - - ITGA2B_000161 in cis with “promoter variant g.951G>A” (location not clear) PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT23 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. 13 c.1214T>C r.(?) p.(Ile405Thr) - Parent #2 - pathogenic (recessive) g.42458426A>G g.44381058A>G - - ITGA2B_000034 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT MR PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1214T>C r.(?) p.(Ile405Thr) - Parent #1 - pathogenic (recessive) g.42458426A>G g.44381058A>G - - ITGA2B_000034 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-3 PubMed: Jallu 2010 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.1214T>C r.(?) p.(Ile405Thr) - Maternal (confirmed) - pathogenic (recessive) g.42458426A>G g.44381058A>G Ile374Thr - ITGA2B_000034 - PubMed: Mitchell 2003 - - Germline - - - - - DNA SEQ - - GT PatC PubMed: Mitchell 2003 2-generation family, 1 affected son/father, unaffected heterozygous carrier mother M - Italy - - - - - 2 Johan den Dunnen
?/. 13 c.1214T>C r.(?) p.(Ile405Thr) - Parent #1 - VUS g.42458426A>G g.44381058A>G - - ITGA2B_000034 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT74 PubMed: Nurden 2015 patient, affected relatives F no France - - - - - 2 Johan den Dunnen
+/. - c.1232dup r.(?) p.(Tyr411Ter) - Paternal (confirmed) - pathogenic (recessive) g.42458408dup g.44381040dup 1233insA Tyr380* - ITGA2B_000033 - PubMed: Mitchell 2003 - - Germline - - - - - DNA SEQ - - GT PatM PubMed: Mitchell 2003 2-generation family, 1 affected, unaffected parents - no Canada;Puerto Rico - - - - - 1 Johan den Dunnen
+?/. 13 c.1234G>A r.(?) p.(Gly412Arg) - Parent #2 - likely pathogenic (recessive) g.42458406C>T g.44381038C>T - - ITGA2B_000122 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT11 PubMed: Nurden 2015 patient, no affected relatives F no France;Germany - - - - - 1 Johan den Dunnen
+?/. 13 c.1234G>A r.(?) p.(Gly412Arg) - Both (homozygous) ACMG likely pathogenic (recessive) g.42458406C>T g.44381038C>T - - ITGA2B_000122 ACMG PM1, PM2, PM3, PP3 PubMed: Zhou 2018 - rs780786843 Germline - - - - - DNA SEQ - - GT GT19 PubMed: Zhou 2018 patient, no family history F yes China Han - - - - 1 Johan den Dunnen
+/. - c.1234G>A r.(?) p.(Gly412Arg) - Unknown - pathogenic (recessive) g.42458406C>T g.44381038C>T - - ITGA2B_000122 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT37 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. 13 c.1259T>C r.(?) p.(Val420Ala) - Parent #2 - likely pathogenic (recessive) g.42458381A>G g.44381013A>G - - ITGA2B_000121 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT22 PubMed: Nurden 2015 - M no France - - - - - 1 Johan den Dunnen
+/. 13 c.1357C>T r.(?) p.(Arg453Ter) - Both (homozygous) - pathogenic (recessive) g.42458283G>A g.44380915G>A - - ITGA2B_000120 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT44 PubMed: Nurden 2015 patient, no affected relatives F no France - - - - - 1 Johan den Dunnen
+/. - c.1413C>A r.(?) p.(Tyr471Ter) - Parent #1 - pathogenic (recessive) g.42457994G>T g.44380626G>T C1414>G (Tyr440*) - ITGA2B_000039 - PubMed: Scott 1998 - - Germline yes - - - - DNA SEQ - - GT family PubMed: Scott 1998 2-generation family, 2 affected sibs - - United States Hispanic - - - - 2 Johan den Dunnen
+/. 14 c.1413C>G r.(?) p.(Tyr471Ter) - Parent #1 - pathogenic (recessive) g.42457994G>C g.44380626G>C - - ITGA2B_000075 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-6 PubMed: Jallu 2010 patient - - France - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.