Full data view for gene BUB1B

Information The variants shown are described using the NM_001211.5 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.10G>A r.(?) p.(Val4Met) Unknown - likely benign g.40453431G>A - BUB1B(NM_001211.5):c.10G>A (p.V4M) - BUB1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119C>T r.(?) p.(Thr40Met) Unknown - likely benign g.40457337C>T g.40165136C>T BUB1B(NM_001211.5):c.119C>T (p.T40M) - BUB1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.180-3C>T r.spl? p.? Unknown - likely benign g.40462260C>T - BUB1B(NM_001211.5):c.180-3C>T - BUB1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.180-1G>A r.spl? p.? Unknown - pathogenic g.40462262G>A g.40170061G>A - - BUB1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.202T>G r.(?) p.(Phe68Val) Unknown - VUS g.40462285T>G - BUB1B(NM_001211.5):c.202T>G (p.F68V) - BUB1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.282_283del r.(?) p.(Ser96Ter) Unknown - pathogenic g.40462780_40462781del - BUB1B(NM_001211.5):c.282_283delGG (p.S96*) - BUB1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348T>C r.(?) p.(Tyr116=) Unknown - benign g.40462846T>C g.40170645T>C BUB1B(NM_001211.5):c.348T>C (p.Y116=) - BUB1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.348T>C r.(?) p.(Tyr116=) Unknown - benign g.40462846T>C g.40170645T>C - - BUB1B_000002 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - 0 - - 1 Maximiliano Zeballos
?/. - c.466A>G r.(?) p.(Ile156Val) Unknown - VUS g.40468759A>G g.40176558A>G BUB1B(NM_001211.5):c.466A>G (p.(Ile156Val)) - BUB1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.526C>T r.(?) p.(Gln176*) Unknown ACMG likely pathogenic g.40468819C>T g.40176618C>T - - BUB1B_000030 ACMG grading: PVS1,PM2 sigma-ca at age 38y, several crc adenomas, mother CRC at age 61y, father several poyps - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
-?/. - c.573C>A r.(?) p.(Ser191=) Unknown - likely benign g.40468866C>A g.40176665C>A BUB1B(NM_001211.5):c.573C>A (p.S191=) - BUB1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.573C>A r.(?) p.(Ser191=) Unknown - likely benign g.40468866C>A g.40176665C>A BUB1B(NM_001211.5):c.573C>A (p.S191=) - BUB1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.580C>T r.(?) p.(Arg194Ter) Unknown - pathogenic g.40468873C>T - BUB1B(NM_001211.5):c.580C>T (p.R194*) - BUB1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.933_951del r.(?) p.(Arg317LeufsTer8) Unknown - likely pathogenic g.40477547_40477565del g.40185346_40185364del - - BUB1B_000034 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2918 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.966+14G>C r.(=) p.(=) Unknown - likely benign g.40477594G>C g.40185393G>C BUB1B(NM_001211.5):c.966+14G>C - BUB1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1046= r.(=) p.(Gln349=) Unknown - benign g.40477831G>A g.40185630G>A BUB1B(NM_001211.5):c.1046G>A (p.R349Q) - BUB1B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.1046A>G r.(?) p.(Gln349Arg) Unknown - benign g.40477831A>G g.40185630A>G - - BUB1B_000026 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - 0 - - 1 Maximiliano Zeballos
-/. 8 c.1046A>G r.(?) p.(Gln349Arg) Unknown - benign g.40477831A>G g.40185630A>G - - BUB1B_000026 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, colon - - - - - Argentina Spain - 0 - - 1 Maximiliano Zeballos
-?/. - c.1058T>C r.(?) p.(Met353Thr) Unknown - likely benign g.40477843T>C g.40185642T>C BUB1B(NM_001211.5):c.1058T>C (p.M353T) - BUB1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 9 c.1164G>A r.(?) p.(Ala388=) Unknown - benign g.40488851G>A g.40196650G>A - - BUB1B_000027 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, colon - - - - - Argentina Spain - 0 - - 1 Maximiliano Zeballos
-/. - c.1170G>C r.(?) p.(Glu390Asp) Unknown - benign g.40488857G>C g.40196656G>C BUB1B(NM_001211.5):c.1170G>C (p.E390D) - BUB1B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1171_1173del r.(?) p.(Glu391del) Unknown - VUS g.40488858_40488860del g.40196657_40196659del BUB1B(NM_001211.5):c.1171_1173delGAG (p.E391del) - BUB1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1220T>G r.(?) p.(Val407Gly) Unknown - VUS g.40488907T>G g.40196706T>G BUB1B(NM_001211.5):c.1220T>G (p.(Val407Gly)) - BUB1B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1246C>T r.(?) p.(Arg416Trp) Unknown - VUS g.40488933C>T g.40196732C>T BUB1B(NM_001211.5):c.1246C>T (p.R416W) - BUB1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1478C>T r.(?) p.(Thr493Ile) Unknown - likely benign g.40492521C>T g.40200320C>T BUB1B(NM_001211.5):c.1478C>T (p.T493I) - BUB1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1630C>T r.(?) p.(Pro544Ser) Unknown - likely benign g.40494791C>T g.40202590C>T BUB1B(NM_001211.5):c.1630C>T (p.P544S) - BUB1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1649G>A r.(?) p.(Arg550Gln) Unknown - benign g.40494810G>A g.40202609G>A BUB1B(NM_001211.5):c.1649G>A (p.R550Q) - BUB1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2010-2A>G r.spl? p.? Unknown - likely pathogenic g.40500836A>G g.40208635A>G BUB1B(NM_001211.5):c.2010-2A>G - BUB1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2010-2A>G r.spl? p.? Unknown - VUS g.40500836A>G - BUB1B(NM_001211.5):c.2010-2A>G - BUB1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2143+15C>T r.(=) p.(=) Unknown - benign g.40500986C>T g.40208785C>T BUB1B(NM_001211.5):c.2143+15C>T - BUB1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2352G>A r.(?) p.(Ala784=) Unknown - likely benign g.40502378G>A g.40210177G>A BUB1B(NM_001211.5):c.2352G>A (p.A784=) - BUB1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2363_2364del r.(?) p.Ser788Cysfs*29 Unknown ACMG likely pathogenic g.40502389_40502390del g.40210188_40210189del - - BUB1B_000025 ACMG grading: PVS1,PM2; Mucinous Adenocarzinoma colon descendens (MSSl, IHC expression of all 4 MMR genes) at age 36y, uncle CRC < 50y, grandmother ps CRC at age 70y. - - rs756459860 Germline - - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Andreas Laner
+?/. - c.2363_2364del r.(?) p.(Ser788CysfsTer29) Unknown - likely pathogenic g.40502389_40502390del g.40210188_40210189del - - BUB1B_000025 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
+?/. - c.2535+5G>A r.spl? p.(?) Unknown - likely pathogenic g.40504854G>A g.40212653G>A - - BUB1B_000029 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
-/. - c.2856C>T r.(?) p.(Asp952=) Unknown - benign g.40510662C>T g.40218461C>T BUB1B(NM_001211.5):c.2856C>T (p.(Asp952=), p.D952=) - BUB1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2856C>T r.(?) p.(Asp952=) Unknown - benign g.40510662C>T g.40218461C>T BUB1B(NM_001211.5):c.2856C>T (p.(Asp952=), p.D952=) - BUB1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2996G>A r.(?) p.(Arg999Gln) Unknown - likely benign g.40512803G>A - BUB1B(NM_001211.5):c.2996G>A (p.R999Q) - BUB1B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3094A>C r.(?) p.(Asn1032His) Unknown - likely benign g.40512901A>C g.40220700A>C BUB1B(NM_001211.5):c.3094A>C (p.N1032H) - BUB1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3094A>C r.(?) p.(Asn1032His) Unknown - likely benign g.40512901A>C g.40220700A>C BUB1B(NM_001211.5):c.3094A>C (p.N1032H) - BUB1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3094A>C r.(?) p.(Asn1032His) Unknown - likely benign g.40512901A>C - BUB1B(NM_001211.5):c.3094A>C (p.N1032H) - BUB1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*32122C>T r.(=) p.(=) Unknown - VUS g.40545082C>T g.40252881C>T C15orf56(NM_001039905.2):c.8G>A (p.(Arg3His)) - C15orf56_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*45471G>A r.(=) p.(=) Unknown - VUS g.40558431G>A g.40266230G>A PAK6(NM_001128628.1):c.593G>A (p.(Cys198Tyr)) - PAK6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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