Full data view for gene ITGB4

Information The variants shown are described using the NM_000213.3 transcript reference sequence.

160 entries on 2 pages. Showing entries 1 - 100.
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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.162+9C>T r.(=) p.(=) Unknown - likely benign g.73723366C>T g.75727286C>T ITGB4(NM_000213.4):c.162+9C>T - ITGB4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163-4C>G r.spl? p.? Unknown - likely benign g.73723481C>G - ITGB4(NM_001005731.3):c.163-4C>G - ITGB4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>T r.(?) p.(Thr63=) Unknown - likely benign g.73723511C>T g.75727430C>T ITGB4(NM_000213.4):c.189C>T (p.T63=) - ITGB4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231C>T r.(?) p.(=) Unknown - likely benign g.73723553C>T - ITGB4(NM_000213.5):c.231C>T (p.I77=) - ITGB4_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.264+2T>A r.[264_265insgagccug, 264_265ins[ga;264+3_265-1]] p.Glu89fs Paternal (confirmed) - pathogenic g.73723588T>A g.75727507T>A 264+2TtoA - ITGB4_000002 - PubMed: Masunaga 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - epidermolysis bullosa, junctional, with pyloric atresia 25728941-Fam PubMed: Masunaga 2015 2-generation family, unaffected heterozygous carrier parents M no Japan - >29y - - - 1 Johan den Dunnen
-?/. - c.290G>A r.(?) p.(Arg97Gln) Unknown - likely benign g.73723757G>A - ITGB4(NM_000213.5):c.290G>A (p.R97Q) - ITGB4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.332G>A r.(?) p.(Arg111Gln) Unknown - likely benign g.73723799G>A g.75727718G>A ITGB4(NM_000213.5):c.332G>A (p.R111Q) - ITGB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387C>T r.(?) p.(Pro129=) Unknown - likely benign g.73723854C>T - ITGB4(NM_000213.5):c.387C>T (p.P129=) - ITGB4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469+4C>T r.spl? p.? Unknown - likely benign g.73723940C>T - ITGB4(NM_000213.5):c.469+4C>T - ITGB4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499T>A r.(?) p.(Tyr167Asn) Unknown - VUS g.73724487T>A - ITGB4(NM_000213.5):c.499T>A (p.(Tyr167Asn)) - ITGB4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.567-22_567-19del r.(=) p.(=) Unknown - benign g.73725324_73725327del g.75729243_75729246del ITGB4(NM_000213.5):c.567-22_567-19delTCTC - ITGB4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.599C>T r.(?) p.(Pro200Leu) Unknown - VUS g.73725378C>T - ITGB4(NM_000213.3):c.599C>T (p.(Pro200Leu)), ITGB4(NM_000213.5):c.599C>T (p.P200L) - ITGB4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.599C>T r.(?) p.(Pro200Leu) Unknown - VUS g.73725378C>T - ITGB4(NM_000213.3):c.599C>T (p.(Pro200Leu)), ITGB4(NM_000213.5):c.599C>T (p.P200L) - ITGB4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665del r.(?) p.(Gly222Glufs*60) Unknown - VUS g.73725444del g.75729363del 665delG - ITGB4_000030 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.848G>A r.(?) p.(Arg283His) Unknown - VUS g.73726431G>A - ITGB4(NM_000213.3):c.848G>A (p.(Arg283His)) - ITGB4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860G>A r.(?) p.(Arg287Gln) Unknown - likely benign g.73726443G>A - ITGB4(NM_000213.5):c.860G>A (p.R287Q) - ITGB4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.867C>T r.(?) p.(His289=) Unknown - likely benign g.73726450C>T - ITGB4(NM_000213.5):c.867C>T (p.H289=) - ITGB4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1002+5G>A r.spl? p.? Unknown - VUS g.73726590G>A g.75730509G>A ITGB4(NM_000213.5):c.1002+5G>A - ITGB4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002+20C>G r.(=) p.(=) Unknown - likely benign g.73726605C>G - ITGB4(NM_000213.5):c.1002+20C>G - ITGB4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003-16G>A r.(=) p.(=) Unknown - likely benign g.73726940G>A - ITGB4(NM_000213.5):c.1003-16G>A - ITGB4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1056G>A r.(?) p.(Ser352=) Unknown - likely benign g.73727009G>A - ITGB4(NM_000213.5):c.1056G>A (p.S352=) - ITGB4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118G>C r.(?) p.(Arg373Pro) Unknown - VUS g.73727352G>C - ITGB4(NM_000213.5):c.1118G>C (p.R373P) - ITGB4_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1215+19A>G r.(=) p.(=) Unknown - likely benign g.73727468A>G - ITGB4(NM_000213.5):c.1215+19A>G - ITGB4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1266C>T r.(?) p.(His422=) Unknown - likely benign g.73727943C>T g.75731862C>T ITGB4(NM_000213.4):c.1266C>T (p.H422=), ITGB4(NM_000213.5):c.1266C>T (p.H422=) - ITGB4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1266C>T r.(?) p.(His422=) Unknown - likely benign g.73727943C>T - ITGB4(NM_000213.4):c.1266C>T (p.H422=), ITGB4(NM_000213.5):c.1266C>T (p.H422=) - ITGB4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299C>G r.(?) p.(Asn433Lys) Unknown - likely benign g.73727976C>G g.75731895C>G ITGB4(NM_000213.4):c.1299C>G (p.N433K) - ITGB4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1345G>A r.(?) p.(Gly449Ser) Unknown - likely benign g.73728022G>A - ITGB4(NM_000213.5):c.1345G>A (p.G449S) - ITGB4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377+7C>T r.(=) p.(=) Unknown - likely benign g.73728061C>T - ITGB4(NM_000213.5):c.1377+7C>T - ITGB4_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377+15C>T r.(=) p.(=) Unknown - likely benign g.73728069C>T - ITGB4(NM_000213.5):c.1377+15C>T - ITGB4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377+18A>T r.(=) p.(=) Unknown - likely benign g.73728072A>T - ITGB4(NM_000213.5):c.1377+18A>T - ITGB4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1428C>T r.(?) p.(Cys476=) Unknown - likely benign g.73728294C>T - ITGB4(NM_000213.5):c.1428C>T (p.(Cys476=), p.C476=) - ITGB4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1428C>T r.(?) p.(Cys476=) Unknown - likely benign g.73728294C>T - ITGB4(NM_000213.5):c.1428C>T (p.(Cys476=), p.C476=) - ITGB4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1434G>T r.(?) p.(Gln478His) Unknown - likely benign g.73728300G>T - ITGB4(NM_000213.4):c.1434G>T (p.Q478H) - ITGB4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1522G>A r.(?) p.(Glu508Lys) Unknown - likely benign g.73729638G>A - ITGB4(NM_000213.3):c.1522G>A (p.(Glu508Lys)) - ITGB4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1533G>A r.(?) p.(Pro511=) Unknown - likely benign g.73729649G>A - ITGB4(NM_000213.5):c.1533G>A (p.P511=) - ITGB4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1544G>A r.(?) p.(Arg515His) Unknown - benign g.73729660G>A g.75733579G>A ITGB4(NM_000213.5):c.1544G>A (p.R515H) - ITGB4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1642G>A r.(?) p.(Gly548Arg) Unknown - likely pathogenic g.73729758G>A g.75733677G>A ITGB4(NM_000213.5):c.1642G>A (p.G548R) - ITGB4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1657+6C>T r.(=) p.(=) Unknown - likely benign g.73729779C>T g.75733698C>T ITGB4(NM_000213.4):c.1657+6C>T - ITGB4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1657+330G>A r.(=) p.(=) Unknown - likely benign g.73730103G>A - ITGB4(NM_000213.5):c.1657+330G>A - ITGB4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 13i c.1658-107C>T r.= p.= Unknown - benign g.73732025C>T g.75735944C>T 1658-107CtoT - ITGB4_000006 - PubMed: Masunaga 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - epidermolysis bullosa, junctional, with pyloric atresia 25728941-Fam PubMed: Masunaga 2015 2-generation family, unaffected heterozygous carrier parents M no Japan - >29y - - - 1 Johan den Dunnen
-/. - c.1667G>A r.(?) p.(Arg556His) Unknown - benign g.73732141G>A - ITGB4(NM_000213.5):c.1667G>A (p.R556H) - ITGB4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749C>T r.(?) p.(Ile583=) Unknown - likely benign g.73732223C>T g.75736142C>T ITGB4(NM_000213.4):c.1749C>T (p.I583=), ITGB4(NM_000213.5):c.1749C>T (p.I583=) - ITGB4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749C>T r.(?) p.(Ile583=) Unknown - likely benign g.73732223C>T - ITGB4(NM_000213.4):c.1749C>T (p.I583=), ITGB4(NM_000213.5):c.1749C>T (p.I583=) - ITGB4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1762-25T>A r.[1761_1762ins[1761+1762-26;a;1762-24_1762-1];1860_1861ins[1860+1_1860+54;g;1860+56_1861-1], 1761_1762ins[1761+1762-26;a;1762-24_1762-1]] p.Gly885fs Maternal (confirmed) - pathogenic g.73732344T>A g.75736263T>A 1762-25TtoA - ITGB4_000003 not in 100 control chromosomes; branchpoint variant PubMed: Masunaga 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - epidermolysis bullosa, junctional, with pyloric atresia 25728941-Fam PubMed: Masunaga 2015 2-generation family, unaffected heterozygous carrier parents M no Japan - >29y - - - 1 Johan den Dunnen
-?/. - c.1805A>T r.(?) p.(His602Leu) Unknown - likely benign g.73732412A>T - ITGB4(NM_000213.5):c.1805A>T (p.H602L) - ITGB4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806C>T r.(?) p.(His602=) Unknown - likely benign g.73732413C>T g.75736332C>T ITGB4(NM_000213.4):c.1806C>T (p.H602=) - ITGB4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15 c.1821G>A r.1821g>a p.Ser607= Paternal (confirmed) - likely benign g.73732428G>A g.75736347G>A 1821GtoA - ITGB4_000005 - PubMed: Masunaga 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - epidermolysis bullosa, junctional, with pyloric atresia 25728941-Fam PubMed: Masunaga 2015 2-generation family, unaffected heterozygous carrier parents M no Japan - >29y - - - 1 Johan den Dunnen
?/. 15 c.1843G>A r.(?) p.(Glu615Lys) Unknown - VUS g.73732450G>A g.75736369G>A - - ITGB4_000069 - PubMed: Gu 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HR - PubMed: Gu 2018 - - - China - - - - - 1 Johan den Dunnen
-/. - c.1860+17C>T r.(=) p.(=) Unknown - benign g.73732484C>T - ITGB4(NM_000213.5):c.1860+17C>T - ITGB4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15i c.1860+55T>G r.(=) p.(=) Maternal (confirmed) - likely benign g.73732522T>G g.75736441T>G - - ITGB4_000004 - PubMed: Masunaga 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - epidermolysis bullosa, junctional, with pyloric atresia 25728941-Fam PubMed: Masunaga 2015 2-generation family, unaffected heterozygous carrier parents M no Japan - >29y - - - 1 Johan den Dunnen
-?/. - c.1893C>G r.(?) p.(Ser631=) Unknown - likely benign g.73732678C>G - ITGB4(NM_000213.5):c.1893C>G (p.S631=) - ITGB4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1911G>A r.(?) p.(Ala637=) Unknown - likely benign g.73732696G>A - ITGB4(NM_000213.5):c.1911G>A (p.(Ala637=), p.A637=) - ITGB4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1911G>A r.(?) p.(Ala637=) Unknown - likely benign g.73732696G>A - ITGB4(NM_000213.5):c.1911G>A (p.(Ala637=), p.A637=) - ITGB4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1940C>T r.(?) p.(Thr647Met) Unknown ACMG likely pathogenic g.73732725C>T g.75736644C>T - - ITGB4_000134 ACMG PM2,PS2 PubMed: Migliavacca 2023 - - Germline - - - - - DNA SEQ-NG - WES IFAP patient PubMed: Migliavacca 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Brazil - - - - - 1 Johan den Dunnen
?/. - c.1955A>G r.(?) p.(Asn652Ser) Unknown - VUS g.73732740A>G - ITGB4(NM_000213.5):c.1955A>G (p.(Asn652Ser)) - ITGB4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2009G>A r.(?) p.(Arg670His) Unknown - likely benign g.73733421G>A g.75737340G>A ITGB4(NM_000213.5):c.2009G>A (p.R670H) - ITGB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2009G>A r.(?) p.(Arg670His) Unknown - likely benign g.73733421G>A - ITGB4(NM_000213.5):c.2009G>A (p.R670H) - ITGB4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2115C>A r.(?) p.(Asp705Glu) Unknown - likely benign g.73733620C>A - ITGB4(NM_000213.5):c.2115C>A (p.D705E) - ITGB4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2145C>T r.(?) p.(=) Unknown - likely benign g.73733650C>T - ITGB4(NM_000213.5):c.2145C>T (p.I715=) - ITGB4_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2207G>T r.(?) p.(Cys736Phe) Parent #1 - likely benign g.73733712G>T g.75737631G>T - - ITGB4_000053 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143203816 Germline - 6/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.2359C>T r.(?) p.(Arg787Cys) Unknown - VUS g.73736065C>T - ITGB4(NM_001005731.3):c.2359C>T (p.R787C) - ITGB4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2371C>T r.(?) p.(Arg791Cys) Unknown - VUS g.73736077C>T - ITGB4(NM_001005731.3):c.2371C>T (p.R791C) - ITGB4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2405G>A r.(?) p.(Gly802Asp) Unknown - VUS g.73736111G>A g.75740030G>A ITGB4(NM_000213.5):c.2405G>A (p.G802D) - ITGB4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2422G>A r.(?) p.(Ala808Thr) Unknown - likely benign g.73736128G>A - ITGB4(NM_000213.5):c.2422G>A (p.A808T) - ITGB4_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2446+19G>A r.(=) p.(=) Unknown - likely benign g.73736171G>A - ITGB4(NM_000213.5):c.2446+19G>A - ITGB4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2510C>T r.(?) p.(Thr837Ile) Unknown - VUS g.73736502C>T - ITGB4(NM_000213.4):c.2510C>T (p.T837I) - ITGB4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2550+7A>T r.(=) p.(=) Unknown - likely benign g.73736549A>T - ITGB4(NM_000213.5):c.2550+7A>T - ITGB4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2551-16_2551-12del r.(=) p.(=) Unknown - likely benign g.73736858_73736862del g.75740777_75740781del ITGB4(NM_000213.5):c.2551-16_2551-12delCTCCC - ITGB4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2596C>T r.(?) p.(Gln866*) Unknown - VUS g.73736919C>T - ITGB4(NM_000213.3):c.2596C>T (p.(Gln866*)) - ITGB4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2631A>C r.(?) p.(Lys877Asn) Unknown - VUS g.73737084A>C - ITGB4(NM_000213.5):c.2631A>C (p.(Lys877Asn)) - ITGB4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2638G>A r.(?) p.(Asp880Asn) Unknown - likely benign g.73738426G>A - ITGB4(NM_000213.4):c.2638G>A (p.D880N) - ITGB4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2675G>A r.(?) p.(Arg892His) Unknown - VUS g.73738463G>A - ITGB4(NM_001005731.3):c.2675G>A (p.R892H) - ITGB4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2730C>T r.(?) p.(Ala910=) Unknown - benign g.73738518C>T g.75742437C>T ITGB4(NM_000213.4):c.2730C>T (p.A910=), ITGB4(NM_000213.5):c.2730C>T (p.A910=) - ITGB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2730C>T r.(?) p.(Ala910=) Unknown - benign g.73738518C>T - ITGB4(NM_000213.4):c.2730C>T (p.A910=), ITGB4(NM_000213.5):c.2730C>T (p.A910=) - ITGB4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2782+17G>A r.(=) p.(=) Unknown - likely benign g.73738587G>A - ITGB4(NM_000213.5):c.2782+17G>A - ITGB4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784C>T r.(?) p.(=) Unknown - likely benign g.73738664C>T - ITGB4(NM_000213.5):c.2784C>T (p.D928=) - ITGB4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2834G>A r.(?) p.(Arg945Gln) Unknown - VUS g.73738714G>A g.75742633G>A ITGB4(NM_001005731.3):c.2834G>A (p.R945Q) - ITGB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2918C>A r.(?) p.(Thr973Asn) Unknown - likely benign g.73738798C>A - ITGB4(NM_000213.5):c.2918C>A (p.T973N) - ITGB4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2922C>T r.(?) p.(Leu974=) Unknown - likely benign g.73738802C>T - ITGB4(NM_000213.5):c.2922C>T (p.L974=) - ITGB4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2929C>T r.(?) p.(Arg977Cys) Unknown - likely benign g.73738809C>T g.75742728C>T ITGB4(NM_000213.5):c.2929C>T (p.R977C) - ITGB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2929C>T r.(?) p.(Arg977Cys) Parent #1 - VUS g.73738809C>T g.75742728C>T - - ITGB4_000015 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145976111 Germline - 33/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 33 Mohammed Faruq
-/. - c.2929C>T r.(?) p.(Arg977Cys) Unknown - benign g.73738809C>T - ITGB4(NM_000213.5):c.2929C>T (p.R977C) - ITGB4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3017A>T r.(?) p.(Gln1006Leu) Unknown - likely benign g.73739848A>T g.75743767A>T ITGB4(NM_000213.4):c.3017A>T (p.Q1006L) - ITGB4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3080G>A r.(?) p.(Arg1027His) Unknown - VUS g.73739911G>A - ITGB4(NM_000213.4):c.3080G>A (p.R1027H) - ITGB4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3112-3C>T r.spl? p.? Unknown - likely benign g.73744919C>T - ITGB4(NM_000213.5):c.3112-3C>T - ITGB4_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3221G>A r.(?) p.(Arg1074His) Unknown - VUS g.73745031G>A g.75748950G>A ITGB4(NM_000213.4):c.3221G>A (p.R1074H) - ITGB4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3224A>C r.(?) p.(Gln1075Pro) Unknown - VUS g.73745034A>C - ITGB4(NM_000213.4):c.3224A>C (p.Q1075P) - ITGB4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3304A>C r.(?) p.(Ile1102Leu) Unknown - VUS g.73745114A>C - ITGB4(NM_001005731.3):c.3304A>C (p.I1102L) - ITGB4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3384C>T r.(?) p.(=) Unknown - likely benign g.73746259C>T - ITGB4(NM_000213.5):c.3384C>T (p.G1128=) - ITGB4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3392A>G r.(?) p.(Gln1131Arg) Unknown - VUS g.73746267A>G - ITGB4(NM_001005731.3):c.3392A>G (p.Q1131R) - ITGB4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3442C>G r.(?) p.(Leu1148Val) Unknown - likely benign g.73746317C>G - ITGB4(NM_000213.3):c.3442C>G (p.(Leu1148Val)) - ITGB4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3474+7C>T r.(=) p.(=) Unknown - likely benign g.73746356C>T g.75750275C>T ITGB4(NM_000213.5):c.3474+7C>T - ITGB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3508G>A r.(?) p.(Glu1170Lys) Unknown - VUS g.73746794G>A - ITGB4(NM_001005731.3):c.3508G>A (p.E1170K) - ITGB4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3519G>A r.(?) p.(Leu1173=) Unknown - likely benign g.73746805G>A - ITGB4(NM_000213.5):c.3519G>A (p.L1173=) - ITGB4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3598G>A r.(?) p.(Gly1200Arg) Unknown - likely benign g.73746884G>A g.75750803G>A ITGB4(NM_000213.5):c.3598G>A (p.G1200R) - ITGB4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3598G>A r.(?) p.(Gly1200Arg) Unknown - likely benign g.73746884G>A - ITGB4(NM_000213.5):c.3598G>A (p.G1200R) - ITGB4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3702G>A r.(?) p.(=) Unknown - VUS g.73747101G>A - ITGB4(NM_000213.5):c.3702G>A (p.(Thr1234=)) - ITGB4_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3707C>T r.(?) p.(Thr1236Ile) Unknown - VUS g.73747106C>T g.75751025C>T ITGB4(NM_000213.4):c.3707C>T (p.T1236I) - ITGB4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3729G>A r.(=) p.(=) Parent #1 - likely benign g.73747128G>A g.75751047G>A - - ITGB4_000054 164 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61735289 Germline - 164/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 164 Mohammed Faruq
-?/. - c.3729G>A r.(=) p.(=) Both (homozygous) - likely benign g.73747128G>A g.75751047G>A - - ITGB4_000054 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61735289 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
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