All variants in the ITGB2 gene

Information The variants shown are described using the NM_000211.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     
-/. - c.-111T>C r.(?) p.(=) - benign g.46340843A>G g.44920928A>G - - ITGB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-3-4701G>A r.(=) p.(=) - VUS g.46335401C>T g.44915486C>T - - ITGB2_000017 - - - - Germline - - - 0 - Yu Sun
-?/. - c.33G>C r.(?) p.(Leu11=) - likely benign g.46330665C>G g.44910750C>G ITGB2(NM_000211.3):c.33G>C (p.L11=) - ITGB2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.58+9T>C r.(=) p.(=) - likely benign g.46330631A>G g.44910716A>G ITGB2(NM_000211.3):c.58+9T>C - ITGB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.58+12G>A r.(=) p.(=) - benign g.46330628C>T - - - ITGB2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.92G>A r.(?) p.(Ser31Asn) - likely benign g.46330254C>T g.44910339C>T ITGB2(NM_000211.3):c.92G>A (p.S31N) - ITGB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.147+5G>A r.spl? p.? - likely benign g.46330194C>T g.44910279C>T ITGB2(NM_000211.3):c.147+5G>A - ITGB2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.147+9C>T r.(=) p.(=) - likely benign g.46330190G>A g.44910275G>A ITGB2(NM_001127491.3):c.147+9C>T - ITGB2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.148-1089A>G r.(=) p.(=) - benign g.46328099T>C g.44908184T>C ITGB2(NM_000211.3):c.148-1089A>G - ITGB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.162G>A r.(?) p.(Pro54=) - likely benign g.46326996C>T g.44907081C>T ITGB2(NM_000211.3):c.162G>A (p.P54=), ITGB2(NM_001127491.3):c.162G>A (p.P54=) - ITGB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.162G>A r.(?) p.(Pro54=) - likely benign g.46326996C>T g.44907081C>T ITGB2(NM_000211.3):c.162G>A (p.P54=), ITGB2(NM_001127491.3):c.162G>A (p.P54=) - ITGB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.182G>A r.(?) p.(Arg61His) - VUS g.46326976C>T - ITGB2(NM_000211.3):c.182G>A (p.R61H) - ITGB2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.228C>T r.(?) p.(Asp76=) - likely benign g.46326930G>A g.44907015G>A ITGB2(NM_001127491.3):c.228C>T (p.D76=) - ITGB2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.329-6C>T r.(=) p.(=) - likely benign g.46323456G>A g.44903541G>A ITGB2(NM_001127491.3):c.329-6C>T - ITGB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.358C>T r.(?) p.(Arg120Trp) - VUS g.46323421G>A g.44903506G>A ITGB2(NM_000211.3):c.358C>T (p.R120W) - ITGB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.493C>T r.(?) p.(Arg165Cys) - VUS g.46323286G>A - - - ITGB2_000044 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.525C>T r.(?) p.(Thr175=) - likely benign g.46321623G>A g.44901708G>A ITGB2(NM_000211.3):c.525C>T (p.T175=) - ITGB2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.546G>A r.(?) p.(Thr182=) - likely benign g.46321602C>T g.44901687C>T ITGB2(NM_000211.3):c.546G>A (p.T182=) - ITGB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.591G>C r.(?) p.(Glu197Asp) - likely benign g.46321557C>G g.44901642C>G ITGB2(NM_001127491.3):c.591G>C (p.E197D) - ITGB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.602C>T r.(?) p.(Pro201Leu) - VUS g.46321546G>A g.44901631G>A ITGB2(NM_000211.3):c.602C>T (p.P201L) - ITGB2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.732C>T r.(?) p.(Ala244=) - likely benign g.46321416G>A g.44901501G>A ITGB2(NM_000211.3):c.732C>T (p.A244=) - ITGB2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.757C>A r.(?) p.(Arg253Ser) - VUS g.46320375G>T g.44900460G>T ITGB2(NM_000211.3):c.757C>A (p.R253S) - ITGB2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.817G>A r.(?) p.(Gly273Arg) - pathogenic g.46320315C>T g.44900400C>T - - ITGB2_000040 - no variant 2nd allele reported - - De novo - - - 0 - Sha Hong
-/. - c.819G>A r.(?) p.(Gly273=) - benign g.46320313C>T g.44900398C>T ITGB2(NM_000211.3):c.819G>A (p.G273=) - ITGB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.828C>T r.(?) p.(Gly276=) - likely benign g.46320304G>A g.44900389G>A ITGB2(NM_001127491.3):c.828C>T (p.G276=) - ITGB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.829G>A r.(?) p.(Ala277Thr) - VUS g.46320303C>T g.44900388C>T ITGB2(NM_000211.3):c.829G>A (p.A277T) - ITGB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.994-1G>A r.spl? p.? - pathogenic g.46314976C>T g.44895061C>T - - ITGB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1002C>T r.(?) p.(Thr334=) - benign g.46314967G>A g.44895052G>A ITGB2(NM_000211.3):c.1002C>T (p.T334=) - ITGB2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 9 c.1037_1044delinsT r.(?) p.(Ser346Phefs*31) - pathogenic g.46314925_46314932delinsA g.44895010_44895017delinsA - - ITGB2_000001 - - - - Unknown - - - 0 - Damien Bruno
-/. - c.1062A>T r.(?) p.(Gln354His) - benign g.46314907T>A g.44894992= ITGB2(NM_000211.3):c.1062A>T (p.Q354H) - ITGB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1062A>T r.(?) p.(Gln354His) - benign g.46314907T>A g.44894992= ITGB2(NM_000211.3):c.1062A>T (p.Q354H) - ITGB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1101C>A r.(?) p.(Val367=) - benign g.46313442G>T g.44893527G>T ITGB2(NM_000211.3):c.1101C>A (p.V367=) - ITGB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1323T>C r.(?) p.(Val441=) - benign g.46311813A>G g.44891898A>G ITGB2(NM_000211.3):c.1323T>C (p.V441=) - ITGB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1323T>C r.(?) p.(Val441=) - benign g.46311813A>G g.44891898A>G ITGB2(NM_000211.3):c.1323T>C (p.V441=) - ITGB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.1323T>G r.(=) p.(=) - VUS g.46311813A>C g.44891898A>C - - ITGB2_000016 for details see the Uveogene database PubMed: Lee 2014 - rs235326 Germline - 110/610 cases - 0 - Peizeng Yang
-?/. - c.1344G>A r.(?) p.(Arg448=) - likely benign g.46311792C>T g.44891877C>T ITGB2(NM_000211.3):c.1344G>A (p.R448=) - ITGB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1358G>A r.(?) p.(Ser453Asn) - likely benign g.46311778C>T g.44891863C>T ITGB2(NM_001127491.3):c.1358G>A (p.S453N) - ITGB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1413-8G>A r.(=) p.(=) - likely benign g.46310145C>T g.44890230C>T ITGB2(NM_000211.3):c.1413-8G>A - ITGB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1600T>C r.(?) p.(Cys534Arg) - VUS g.46309950A>G - ITGB2(NM_000211.3):c.1600T>C (p.(Cys534Arg)) - ITGB2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1635C>T r.(?) p.(Asn545=) - likely benign g.46309915G>A g.44890000G>A ITGB2(NM_000211.3):c.1635C>T (p.N545=), ITGB2(NM_001127491.3):c.1635C>T (p.N545=) - ITGB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1635C>T r.(?) p.(Asn545=) - likely benign g.46309915G>A g.44890000G>A ITGB2(NM_000211.3):c.1635C>T (p.N545=), ITGB2(NM_001127491.3):c.1635C>T (p.N545=) - ITGB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1658-19G>A r.(=) p.(=) - likely benign g.46309429C>T g.44889514C>T ITGB2(NM_001127491.3):c.1658-19G>A - ITGB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1756C>T r.(?) p.(Arg586Trp) - likely benign g.46309312G>A g.44889397G>A - - ITGB2_000036 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030672 Germline - 3/2795 individuals - 0 - Mohammed Faruq
-/. - c.1756C>T r.(?) p.(Arg586Trp) - benign g.46309312G>A - ITGB2(NM_000211.3):c.1756C>T (p.R586W) - ITGB2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1756C>T r.(?) p.(Arg586Trp) - VUS g.46309312G>A - - - ITGB2_000036 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.1798G>A r.(?) p.(Val600Ile) - likely benign g.46309270C>T - ITGB2(NM_000211.3):c.1798G>A (p.V600I) - ITGB2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1888G>A r.(?) p.(Glu630Lys) - likely benign g.46308800C>T g.44888885C>T ITGB2(NM_000211.3):c.1888G>A (p.E630K) - ITGB2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1969G>A r.(?) p.(Val657Met) - likely benign g.46308719C>T g.44888804C>T ITGB2(NM_000211.3):c.1969G>A (p.V657M) - ITGB2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2050C>T r.(?) p.(Arg684Cys) - VUS g.46308638G>A g.44888723G>A ITGB2(NM_000211.3):c.2050C>T (p.R684C) - ITGB2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2058C>G r.(?) p.(Leu686=) - benign g.46308630G>C g.44888715G>C ITGB2(NM_000211.3):c.2058C>G (p.L686=) - ITGB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2172G>A r.(?) p.(Lys724=) - likely benign g.46306726C>T g.44886811C>T ITGB2(NM_000211.3):c.2172G>A (p.K724=) - ITGB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2280G>A r.(?) p.(Thr760=) - likely benign g.46306313C>T g.44886398C>T ITGB2(NM_000211.3):c.2280G>A (p.T760=) - ITGB2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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