Full data view for gene ITGB3

Information The variants shown are described using the NM_000212.2 transcript reference sequence.

231 entries on 3 pages. Showing entries 1 - 100.
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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     
+/. 13i_15_ c.(2134+1_2135-1)_(*2507_?)del r.? p.? - Parent #2 - pathogenic (recessive) g.(45380207_45384836)_(45390077_?)del g.(47302841_47307470)_(47312711_?)del del ex14-15 - ITGB3_000123 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT54 PubMed: Nurden 2015 patient, no affected relatives M no Argentina;Italy - - - - - 1 Johan den Dunnen
-?/. 1 c.31T>C r.(?) p.(Trp11Arg) - Both (homozygous) - likely benign g.45331258T>C g.47253892T>C - - ITGB3_000080 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT62 PubMed: Nurden 2015 2-generation family, 2 affected sisters F no France - - - - - 2 Johan den Dunnen
-/. - c.40G>A r.(?) p.(Val14Met) - Unknown - benign g.45331267G>A - ITGB3(NM_000212.2):c.40G>A (p.V14M) - ITGB3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.59T>C r.(?) p.(Leu20Pro) - Unknown - likely pathogenic (recessive) g.45331286T>C g.47253920T>C - - ITGB3_000126 in cis with “promoter variant g.951G>A” (location not clear) PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT10 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
-?/. - c.72C>T r.(?) p.(Gly24=) - Unknown - likely benign g.45331299C>T g.47253933C>T ITGB3(NM_000212.2):c.72C>T (p.G24=) - ITGB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.79+1G>A r.spl p.? - Parent #1 - pathogenic (recessive) g.45331307G>A g.47253941G>A - - ITGB3_000081 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT38 PubMed: Nurden 2015 patient, no affected relatives F no Switzerland;United States - - - - - 1 Johan den Dunnen
+?/. - c.92G>A r.(?) p.(Cys31Tyr) - Unknown - likely pathogenic (recessive) g.45351797G>A g.47274431G>A - - ITGB3_000127 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT39 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
?/. - c.98C>T r.(?) p.(Thr33Met) HPA-29 Unknown - pathogenic (paternal) g.45351803C>T g.47274437C>T - - ITGB3_000078 - - - - Germline - - - - - DNA SEQ - - FMAIT patient - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.100C>T r.(?) p.(Arg34Ter) - Both (homozygous) - pathogenic (recessive) g.45351805C>T g.47274439C>T - - ITGB3_000063 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-20 PubMed: Jallu 2010 patient - - France Africa-N - - - - 1 Johan den Dunnen
+/. - c.100C>T r.100C>T p.Arg34Ter - Both (homozygous) - pathogenic (recessive) g.45351805C>T g.47274439C>T C>T Arg8stop - ITGB3_000063 - PubMed: Negrier 1998 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - GT Pat3 PubMed: Negrier 1998 2-generation family, 2 affected, unaffected parents - - France - - - - - 2 Johan den Dunnen
+/. 2 c.115T>G r.(?) p.(Cys39Gly) - Both (homozygous) - pathogenic (recessive) g.45351820T>G g.47274454T>G - - ITGB3_000082 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT11 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 2 c.153del r.(?) p.(Trp51CysfsTer16) - Both (homozygous) - pathogenic (recessive) g.45351858del g.47274492del 153delG - ITGB3_000083 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT07 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
?/. - c.155_156delinsTT r.(?) p.(Cys52Phe) - Both (homozygous) - pathogenic (recessive) g.45351860_45351861delinsTT g.47274494_47274495delinsTT 155_156delGCinsTT - ITGB3_000128 in cis with “promoter variant g.951G>A” (location not clear) PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT59 PubMed: Kannan 2009 family, 2 affected - - India - - - - - 2 Johan den Dunnen
?/. 2 c.161A>C - - - Both (homozygous) - VUS g.45351866A>C g.47274500A>C - - ITGB3_000054 - PubMed: Simsek 1993 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT2;BDPLT23 patient PubMed: Simsek 1993 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. 2_2i c.165_165+1delinsTT r.80_165del p.Gly27AspfsTer10 - Both (homozygous) - pathogenic (recessive) g.45351870_45351871delinsTT g.47274504_47274505delinsTT 3450_34501GG>TT - ITGB3_000053 - PubMed: Simsek 1993 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT2;BDPLT23 patient PubMed: Simsek 1993 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
?/. 2i c.166-14C>A r.spl? p.? - Both (homozygous) - VUS g.45360706C>A g.47283340C>A - - ITGB3_000084 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT03 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 2i c.166-2A>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.45360718A>G g.47283352A>G - - ITGB3_000085 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-19 PubMed: Jallu 2010 patient - - France - - - - - 1 Johan den Dunnen
-/. - c.176T>C r.(?) p.(Leu59Pro) - Unknown - benign g.45360730T>C g.47283364T>C - - ITGB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176T>C r.176T>C p.Leu59Pro HPA-1;Pl(A2) Unknown - VUS g.45360730T>C g.47283364T>C 196T>C (Leu33Pro) - ITGB3_000005 - PubMed: Newman 1989 - rs5918 Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pl(A2) PubMed: Newman 1989 - - - United States - - - - - 1 Johan den Dunnen
+?/. 3 c.187C>T r.(?) p.(Arg63Cys) - Parent #1 - likely pathogenic (recessive) g.45360741C>T g.47283375C>T - - ITGB3_000086 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT7 PubMed: Nurden 2015 2-generation family, affected sister/brother F no France - - - - - 2 Johan den Dunnen
+/. 3 c.191G>A r.(?) p.(Cys64Tyr) - Parent #1 - pathogenic (recessive) g.45360745G>A g.47283379G>A - - ITGB3_000087 no variant 2nd chromosome PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-21 PubMed: Jallu 2010 patient - - France - - - - - 1 Johan den Dunnen
+/. 3 c.224del r.(?) p.(Cys75LeufsTer10) - Both (homozygous) - pathogenic (recessive) g.45360778del g.47283412del - - ITGB3_000088 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT61 PubMed: Nurden 2015 2-generation family, affected sister/brother (deceased) F no France;Italy - - - - - 2 Johan den Dunnen
+/. 3 c.224delG r.(?) p.(Cys75LeufsTer10) - Both (homozygous) - pathogenic (recessive) g.45360778del g.47283412del 224Gdel - ITGB3_000088 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT2;BDPLT23 MR PubMed: D'Andrea 2002 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.262C>T r.(?) p.(Arg88Ter) - Parent #1 - pathogenic (recessive) g.45360816C>T g.47283450C>T - - ITGB3_000062 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT04 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.262C>T p.Arg88Ter - Both (homozygous) - pathogenic (recessive) g.45360816C>T g.47283450C>T - - ITGB3_000062 - PubMed: Vinciguerra 1995, PubMed: Negrier 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT Fam1 PubMed: Vinciguerra 1995, PubMed: Negrier 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.262C>T r.(?) p.(Arg88Ter) - Parent #1 - pathogenic (recessive) g.45360816C>T g.47283450C>T - - ITGB3_000062 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT33a PubMed: Nurden 2015 2-generation family, affected brother/sister M - United States Laos - - - - 2 Johan den Dunnen
+/. 3 c.262C>T r.(?) p.(Arg88Ter) - Parent #1 - pathogenic (recessive) g.45360816C>T g.47283450C>T - - ITGB3_000062 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT33b PubMed: Nurden 2015 sister F - United States Laos - - - - 1 Johan den Dunnen
?/. - c.263G>A r.(?) p.(Arg88Gln) HPA-10 Unknown - pathogenic (paternal) g.45360817G>A g.47283451G>A - - ITGB3_000073 - - - - Germline - - - - - DNA SEQ - - FMAIT patient - - - - - - - - - - 1 Johan den Dunnen
-?/. - c.285C>T r.(?) p.(=) - Unknown - likely benign g.45360839C>T - ITGB3(NM_000212.3):c.285C>T (p.(Leu95=)) - ITGB3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.342T>C r.(?) p.(Ile114=) - Unknown - benign g.45360896T>C - - - ITGB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.353T>A r.(?) p.(Leu118His) - Unknown - likely pathogenic g.45360907T>A - ITGB3(NM_000212.3):c.353T>A (p.(Leu118His)) - ITGB3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.353T>A r.(?) p.(Leu118His) - Parent #1 - likely pathogenic (recessive) g.45360907T>A g.47283541T>A - - ITGB3_000030 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT3 PubMed: Nurden 2015 patient, no affected relatives F - France - - - - - 1 Johan den Dunnen
+/. 3 c.355C>T r.(?) p.(Arg119Trp) - Parent #1 - pathogenic (recessive) g.45360909C>T g.47283543C>T - - ITGB3_000089 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT2;BDPLT23 SM PubMed: D'Andrea 2002 patient F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.355C>T r.(?) p.(Arg119Trp) - Parent #1 - pathogenic (recessive) g.45360909C>T g.47283543C>T - - ITGB3_000089 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT2;BDPLT23 LPR PubMed: D'Andrea 2002 patient F - Italy - - - - - 1 Johan den Dunnen
+/. - c.355C>T - p.Arg119Trp - Unknown - NA g.45360909C>T g.47283543C>T - - ITGB3_000089 in vitro expression analysis shows pronounced reduction in αIIb and β3 surface expression, loss of PAC-1 binding; authors suggest classification of variant as "pathogenic" PubMed: Kosaka 2025 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.356G>A r.(?) p.(Arg119Gln) - Both (homozygous) - pathogenic (recessive) g.45360910G>A g.47283544G>A - - ITGB3_000090 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT42 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 3 c.356G>A r.(?) p.(Arg119Gln) - Parent #2 - pathogenic (recessive) g.45360910G>A g.47283544G>A - - ITGB3_000090 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT04 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+?/. 3 c.356G>A r.(?) p.(Arg119Gln) - Parent #1 - likely pathogenic (recessive) g.45360910G>A g.47283544G>A - - ITGB3_000090 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT53 PubMed: Nurden 2015 patient, no affected relatives M no Argentina;Brazil - - - - - 1 Johan den Dunnen
+/. - c.356G>A - p.Arg119Gln - Unknown - NA g.45360910G>A g.47283544G>A - - ITGB3_000090 in vitro expression analysis shows pronounced reduction in αIIb and β3 surface expression, loss of PAC-1 binding; authors suggest classification of variant as "pathogenic" PubMed: Kosaka 2025 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.356G>A r.(?) p.(Arg119Gln) - Unknown - pathogenic (recessive) g.45360910G>A g.47283544G>A - - ITGB3_000090 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT9 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
?/. - c.368C>T r.(?) p.(Ser123Leu) - Unknown - VUS g.45361815C>T - ITGB3(NM_000212.3):c.368C>T (p.(Ser123Leu)) - ITGB3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.392G>C r.(?) p.(Arg131Pro) - Parent #1 - likely pathogenic (recessive) g.45361839G>C g.47284473G>C - - ITGB3_000091 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT35a PubMed: Nurden 2015 2-generation family, 2 affected sisters F no United States - - - - - 2 Johan den Dunnen
+?/. 4 c.392G>C r.(?) p.(Arg131Pro) - Parent #1 - likely pathogenic (recessive) g.45361839G>C g.47284473G>C - - ITGB3_000091 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT35b PubMed: Nurden 2015 sister F no United States - - - - - 1 Johan den Dunnen
+?/. 4 c.412G>A r.(?) p.(Val138Met) - Parent #1 ACMG likely pathogenic (recessive) g.45361859G>A g.47284493G>A - - ITGB3_000129 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.415G>C r.(?) p.(Asp139His) - Maternal (confirmed) - likely pathogenic (recessive) g.45361862G>C g.47284496G>C - - ITGB3_000130 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT53 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.422A>G r.(?) p.(Tyr141Cys) - Paternal (confirmed) - pathogenic (recessive) g.45361869A>G g.47284503A>G - - ITGB3_000131 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT53 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.428T>G r.(?) p.(Leu143Trp) - Parent #1 - pathogenic g.45361875T>G g.47284509T>G - - ITGB3_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918452 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT08 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Parent #1 - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT09 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT16 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT32 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT33 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
?/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT39 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
?/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT40 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT48 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT50 PubMed: Peretz 2006 - M - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT53 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT60-1 PubMed: Peretz 2006 family, 2 affected sibs F - India - - - - - 2 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT60-2 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.428T>G r.(?) p.(Leu143Trp) - Both (homozygous) - pathogenic (recessive) g.45361875T>G g.47284509T>G - - ITGB3_000012 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT64 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
+/. 4 c.431T>G r.(?) p.(Met144Arg) - Both (homozygous) - pathogenic (recessive) g.45361878T>G g.47284512T>G - - ITGB3_000092 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-22 PubMed: Jallu 2010 patient - - South Africa - - - - - 1 Johan den Dunnen
+/. - c.433G>T r.433G>T p.Asp145Tyr - Both (homozygous) - pathogenic (recessive) g.45361880G>T g.47284514G>T (D119Y) - ITGB3_000049 - PubMed: Loftus 1990 - rs121918445 Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT2;BDPLT23 family PubMed: Loftus 1990 family, 2 affected sibs - - United States - - - - - 2 Johan den Dunnen
?/. - c.473A>G r.(?) p.(Gln158Arg) WO Paternal (inferred) - pathogenic (paternal) g.45361920A>G g.47284554A>G Gln132Arg - ITGB3_000071 variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta PubMed: Holzwarth 2020, GenBank MN624129 - - Germline - - - - - DNA SEQ - - FMAIT patient PubMed: Holzwarth 2020 - F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.482G>T r.(?) p.(Gly161Val) - Unknown - likely pathogenic g.45361929G>T - - - ITGB3_000024 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487A>C r.(?) p.(Lys163Gln) HPA-19;STA Paternal (confirmed) - pathogenic (paternal) g.45361934A>C g.47284568A>C K137Q - ITGB3_000068 variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta PubMed: Peterson 2010 - - Germline - - - - - DNA SEQ - - FMAIT Pat1(Sta) PubMed: Peterson 2010 2-generation family, 1 affected, unaffected heterozygous carrier father - - United States - - - - - 1 Johan den Dunnen
?/. - c.497C>T r.(?) p.(Thr166Ile) HPA-16 Unknown - pathogenic (paternal) g.45361944C>T g.47284578C>T - - ITGB3_000075 - - - - Germline - - - - - DNA SEQ - - FMAIT patient - - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.505C>T r.(?) p.(Arg169Ter) - Parent #2 - pathogenic (recessive) g.45361952C>T g.47284586C>T - - ITGB3_000093 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT7 PubMed: Nurden 2015 2-generation family, affected sister/brother F no France - - - - - 2 Johan den Dunnen
?/. - c.506G>A r.506G>A p.Arg169Gln HPA-4;Penb;Yaka Unknown - VUS g.45361953G>A g.47284587G>A 526G>A (Arg143Gln) - ITGB3_000051 Pen(a)/Pen(b) platelet alloantigen system implicated in fetomaternal alloimmune thrombocytopenia-1 (FMAIT1) and posttransfusion thrombocytopenic purpura PubMed: Wang 1992, PubMed: Shibata 1986 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pen(b) PubMed: Wang 1992 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.521A>G r.(?) p.(Asn174Ser) DOM Paternal (confirmed) - pathogenic (paternal) g.45361968A>G g.47284602A>G - - ITGB3_000070 variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta PubMed: Sullivan 2017 - rs879083962 Germline - - - - - DNA SEQ - - FMAIT patient PubMed: Sullivan 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.557C>T r.(?) p.(Pro186Leu) - Unknown - VUS g.45362004C>T - - - ITGB3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.565C>T r.(?) p.(Pro189Ser) - Parent #1 - likely pathogenic (recessive) g.45362012C>T g.47284646C>T - - ITGB3_000094 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT5 PubMed: Nurden 2015 2-generation family, 2 affected brothers M no France - - - - - 2 Johan den Dunnen
+?/. 4 c.565C>T r.(?) p.(Pro189Ser) - Both (homozygous) - likely pathogenic (recessive) g.45362012C>T g.47284646C>T - - ITGB3_000094 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT12 PubMed: Nurden 2015 2-generation family, affected sister/brother (died at birth) F yes France - - - - - 2 Johan den Dunnen
+/. 4_4i c.613_614+2del r.spl p.? - Both (homozygous) - pathogenic (recessive) g.45362060_45362063del g.47284694_47284697del - - ITGB3_000095 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT70 PubMed: Nurden 2015 patient, no affected relatives F yes France Arab - - - - 1 Johan den Dunnen
+/. 4i c.614+1G>T r.spl p.? - Both (homozygous) - pathogenic (recessive) g.45362062G>T g.47284696G>T [614+1G>T;683G>A] - ITGB3_000096 variants in cis not classified individually PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT43a PubMed: Nurden 2015 2-generation family, affected sister/brither F yes Morocco - 7y - - - 2 Johan den Dunnen
+/. 4i c.614+1G>T r.spl p.? - Both (homozygous) - pathogenic (recessive) g.45362062G>T g.47284696G>T [614+1G>T;683G>A] - ITGB3_000096 variants in cis not classified individually PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT43b PubMed: Nurden 2015 brother M yes Morocco - - - - - 1 Johan den Dunnen
+/. 5 c.652C>T r.(?) p.(His218Tyr) - Both (homozygous) - pathogenic (recessive) g.45363663C>T g.47286297C>T - - ITGB3_000097 - PubMed: Peretz 2006 - - Germline - - - - - DNA SSCA, SEQ - - GT2;BDPLT23 GT17 PubMed: Peretz 2006 - F - India - - - - - 1 Johan den Dunnen
?/. - c.662C>T r.(?) p.(Thr221Met) HPA-17 Unknown - pathogenic (paternal) g.45363673C>T g.47286307C>T - - ITGB3_000076 - - - - Germline - - - - - DNA SEQ - - FMAIT patient - - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.665T>C r.(?) p.(Leu222Pro) - Both (homozygous) - pathogenic (recessive) g.45363676T>C g.47286310T>C - - ITGB3_000061 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-23 PubMed: Jallu 2010 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.665T>C r.(?) p.(Leu222Pro) - Maternal (confirmed) - pathogenic (recessive) g.45363676T>C g.47286310T>C - - ITGB3_000061 no variant 2nd chromosome; mother, sister and son carrier PubMed: Nurden 2002 - - Germline - - - - - DNA SEQ, SSCA - - GT RM;GT9 PubMed: Nurden 2002, PubMed: Nurden 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - France - - - - - 1 Johan den Dunnen
+/. - c.674del r.(?) p.(Gln225ArgfsTer2) - Both (homozygous) - pathogenic (recessive) g.45363685del g.47286319del 674delA - ITGB3_000132 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT30 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. 5 c.683G>A r.(?) p.(Arg228His) - Both (homozygous) - likely pathogenic (recessive) g.45363694G>A g.47286328G>A [614+1G>T;683G>A] - ITGB3_000098 variants in cis not classified individually PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT43a PubMed: Nurden 2015 2-generation family, affected sister/brither F yes Morocco - 7y - - - 2 Johan den Dunnen
+?/. 5 c.683G>A r.(?) p.(Arg228His) - Both (homozygous) - likely pathogenic (recessive) g.45363694G>A g.47286328G>A [614+1G>T;683G>A] - ITGB3_000098 variants in cis not classified individually PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT43b PubMed: Nurden 2015 brother M yes Morocco - - - - - 1 Johan den Dunnen
+/. 5 c.709_710del r.(?) p.(Ser237CysfsTer13) - Unknown - pathogenic (recessive) g.45363720_45363721del g.47286354_47286355del 708_709del - ITGB3_000099 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT3 PubMed: Nurden 2015 patient, no affected relatives F - France - - - - - 1 Johan den Dunnen
+/. - c.718C>T r.718C>T p.Arg240Trp Strasbourg I Both (homozygous) - pathogenic (recessive) g.45363729C>T g.47286363C>T 738C>T (Arg214Trp) - ITGB3_000048 - PubMed: Lanza 1992 - rs121918446 Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT2;BDPLT23 PatMS PubMed: Lanza 1992 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
+/. - c.719G>A r.719G>A p.Arg240Gln - Both (homozygous) - pathogenic (recessive) g.45363730G>A g.47286364G>A G>A R214Q - ITGB3_000047 - PubMed: Bajt 1992 - rs121918444 Germline - - - - - DNA, RNA RT-PCR, SEQ - - GT2;BDPLT23 PatET PubMed: Bajt 1992 - - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.719G>A r.(?) p.(Arg240Gln) - Both (homozygous) ACMG pathogenic (recessive) g.45363730G>A g.47286364G>A - - ITGB3_000047 ACMG PS3, PM1, PM3, PP2, PP3 PubMed: Zhou 2018 - rs121918444 Germline - - - - - DNA SEQ - - GT GT33 PubMed: Zhou 2018 patient, no family history F yes China Han - - - - 1 Johan den Dunnen
+/. - c.725G>A r.(?) p.(Arg242Gln) - Both (homozygous) - pathogenic (recessive) g.45363736G>A g.47286370G>A 752G>A - ITGB3_000133 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT2 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. 5 c.728A>T r.(?) p.(Asp243Val) - Both (homozygous) - pathogenic (recessive) g.45363739A>T g.47286373A>T - - ITGB3_000100 - PubMed: D'Andrea 2002 - - Germline - - - - - DNA SEQ - - GT2;BDPLT23 GI PubMed: D'Andrea 2002 patient F - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.740G>A r.(?) p.(Gly247Asp) - Parent #1 - pathogenic (recessive) g.45363751G>A g.47286385G>A - - ITGB3_000101 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-24 PubMed: Jallu 2010 patient - - France Africa-N - - - - 1 Johan den Dunnen
+?/. - c.750T>A r.(?) p.(Asp250Glu) - Unknown - likely pathogenic g.45363761T>A - ITGB3(NM_000212.2):c.750T>A (p.D250E) - ITGB3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.777+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.45363789G>A g.47286423G>A - - ITGB3_000102 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT30 PubMed: Nurden 2015 2-generation family, affected sister/brother F no United States - - - - - 2 Johan den Dunnen
+/. 5i c.777+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.45363789G>A g.47286423G>A - - ITGB3_000102 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT35a PubMed: Nurden 2015 2-generation family, 2 affected sisters F no United States - - - - - 2 Johan den Dunnen
+/. 5i c.777+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.45363789G>A g.47286423G>A - - ITGB3_000102 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT35b PubMed: Nurden 2015 sister F no United States - - - - - 1 Johan den Dunnen
?/. - c.785T>C r.(?) p.(Ile262Thr) - Unknown - VUS g.45364443T>C g.47287077T>C - - ITGB3_000018 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+/. 6 c.836A>T r.(?) p.(Lys279Met) - Parent #2 - pathogenic (recessive) g.45364494A>T g.47287128A>T - - ITGB3_000103 - PubMed: Jallu 2010 - - Germline - - - - - DNA SEQ - - GT CabGT-24 PubMed: Jallu 2010 patient - - France Africa-N - - - - 1 Johan den Dunnen
+?/. 6 c.842A>C r.(?) p.(His281Pro) - Parent #1 ACMG likely pathogenic (recessive) g.45364500A>C g.47287134A>C - - ITGB3_000134 ACMG PM1, PM2, PM3, PP3 PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - GT GT11 PubMed: Zhou 2018 patient, no family history F no China Han - - - - 1 Johan den Dunnen
+/. 6 c.861del r.(?) p.(Arg287SerfsTer34) - Parent #1 - pathogenic (recessive) g.45364519del g.47287153del - - ITGB3_000104 - PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT51 PubMed: Nurden 2015 patient, no affected relatives M no France Africa - - - - 1 Johan den Dunnen
+/. - c.887_901del r.(?) p.(Asp296_His300del) - Unknown - pathogenic (recessive) g.45364545_45364559del g.47287179_47287193del 887_901delACGGGCAGTGTCATG - ITGB3_000135 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT31 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+/. - c.887_901del r.(?) p.(Asp296_His300del) - Unknown - pathogenic (recessive) g.45364545_45364559del g.47287179_47287193del 887_901delACGGGCAGTGTCATG - ITGB3_000135 - PubMed: Kannan 2009 - - Germline - - - - - DNA CSGE, SEQ - - GT GT41 PubMed: Kannan 2009 patient - - India - - - - - 1 Johan den Dunnen
+?/. 6 c.889G>A r.(?) p.(Gly297Arg) - Parent #1 - likely pathogenic (recessive) g.45364547G>A g.47287181G>A - - ITGB3_000105 no variant 2nd chromosome PubMed: Nurden 2015 - - Germline - - - - - DNA SEQ - - GT GT73 PubMed: Nurden 2015 patient, no affected relatives F - France - - - - - 1 Johan den Dunnen
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