Full data view for gene BUB1

Information The variants shown are described using the NM_004336.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Technique     

Tissue     

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Disease     

ID_report     

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+/. - c.-1696823_*23840del r.0? p.0? Unknown ACMG pathogenic g.111371701_113132395del g.110614124_112374818del MERTK:NM_006343, - ACOXL_000006 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-442 PubMed: Rodriguez-Munoz 2020 family fRPN-197, proband F - Spain - - - - - 1 LOVD
-/. - c.27-9C>G r.(=) p.(=) Unknown - benign g.111431951G>C g.110674374G>C BUB1(NM_004336.4):c.27-9C>G - BUB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.67G>C - - Parent #1 - VUS g.111431902C>G - - - BUB1_000020 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.85del r.(?) p.(Arg29Aspfs*6) Unknown - VUS g.111431886del - BUB1(NM_004336.5):c.85del (p.(Arg29Aspfs*6)) - BUB1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.320C>T - - Parent #1 - VUS g.111430340G>A - - - BUB1_000019 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.490T>C - - Parent #1 - VUS g.111427107A>G - - - BUB1_000018 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.523T>G - - Parent #1 - VUS g.111427074A>C - - - BUB1_000017 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.621-3T>C r.spl? p.? Unknown - likely benign g.111425285A>G g.110667708A>G BUB1(NM_004336.4):c.621-3T>C - BUB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677C>T r.(?) p.(Ala226Val) Unknown - likely benign g.111425226G>A g.110667649G>A BUB1(NM_001278616.1):c.617C>T (p.(Ala206Val)), BUB1(NM_004336.4):c.677C>T (p.A226V) - BUB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677C>T r.(?) p.(Ala226Val) Unknown - VUS g.111425226G>A g.110667649G>A BUB1(NM_001278616.1):c.617C>T (p.(Ala206Val)), BUB1(NM_004336.4):c.677C>T (p.A226V) - BUB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.677G>A - - Parent #1 - VUS g.111425226C>T - - - BUB1_000016 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.677G>A - - Parent #1 - VUS g.111425226C>T - - - BUB1_000016 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 10 Melissa DeRycke
-?/. - c.880G>A r.(?) p.(Asp294Asn) Unknown - likely benign g.111423917C>T g.110666340C>T BUB1(NM_004336.4):c.880G>A (p.D294N) - BUB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1009C>T - - Parent #1 - VUS g.111419367G>A - - - BUB1_000015 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-/. - c.1023A>G r.(?) p.(Pro341=) Unknown - benign g.111419353T>C g.110661776T>C BUB1(NM_004336.4):c.1023A>G (p.P341=) - BUB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031A>C r.(?) p.(Tyr344Ser) Unknown - likely benign g.111419345T>G g.110661768T>G BUB1(NM_004336.4):c.1031A>C (p.Y344S) - BUB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1224G>A r.(?) p.(Val408=) Unknown - likely benign g.111417607C>T g.110660030C>T BUB1(NM_004336.4):c.1224G>A (p.V408=) - BUB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1290T>C r.(?) p.(His430=) Unknown - benign g.111416306A>G g.110658729A>G BUB1(NM_004336.4):c.1290T>C (p.H430=) - BUB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1508delTG - - Parent #1 - pathogenic g.111415995delCA - - - BUB1_000014 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1666G>C - - Parent #1 - VUS g.111414645C>G - - - BUB1_000013 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.1699-7G>T r.(=) p.(=) Unknown - likely benign g.111413500C>A g.110655923C>A BUB1(NM_004336.4):c.1699-7G>T - BUB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1722delCT - - Parent #1 - pathogenic g.111413470delAG - - - BUB1_000012 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1841A>C - - Parent #1 - VUS g.111413351T>G - - - BUB1_000011 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1859T>G - - Parent #1 - VUS g.111413333A>C - - - BUB1_000010 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.2030G>A r.(?) p.(Arg677His) Unknown - likely benign g.111408296C>T - BUB1(NM_004336.4):c.2030G>A (p.R677H) - BUB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2197dup r.(?) p.(Ala733Glyfs*12) Unknown - VUS g.111408129dup - BUB1(NM_004336.5):c.2197dupG (p.A733Gfs*12) - BUB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2203+4C>T r.spl? p.? Unknown - VUS g.111408119G>A g.110650542G>A BUB1(NM_001278616.1):c.2143+4C>T (p.?) - BUB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2239T>C - - Parent #1 - VUS g.111406919A>G - - - BUB1_000009 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.2301G>A r.(?) p.(Trp767*) Unknown - VUS g.111406857C>T - BUB1(NM_004336.5):c.2301G>A (p.(Trp767*)) - BUB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2417T>C - - Parent #1 - VUS g.111399742A>G - - - BUB1_000008 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-/. - c.2478C>T r.(?) p.(Ala826=) Unknown - benign g.111399366G>A g.110641789G>A BUB1(NM_004336.4):c.2478C>T (p.A826=) - BUB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2481C>T r.(?) p.(Asn827=) Unknown - likely benign g.111399363G>A g.110641786G>A BUB1(NM_004336.4):c.2481C>T (p.N827=) - BUB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2537T>C - - Parent #1 - VUS g.111399307A>G - - - BUB1_000007 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.2592_2593insATT r.(?) p.(Leu864_Val865insIle) Unknown - VUS g.111399251_111399252insAAT g.110641674_110641675insAAT - - BUB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2625+1G>A r.spl? p.? Unknown - VUS g.111399218C>T - BUB1(NM_004336.5):c.2625+1G>A - BUB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2711T>A r.(?) p.(Met904Lys) Unknown - VUS g.111398956A>T g.110641379A>T BUB1(NM_004336.4):c.2711T>A (p.M904K) - BUB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2782C>T - - Parent #1 - VUS g.111398885G>A - - - BUB1_000006 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2798T>A - - Parent #1 - VUS g.111398768A>T - - - BUB1_000005 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2801T>C - - Parent #1 - VUS g.111398765A>G - - - BUB1_000004 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.2921A>G - - Parent #1 - VUS g.111398645T>C - - - BUB1_000003 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.2971G>A r.(?) p.(Val991Ile) Unknown - VUS g.111397410C>T g.110639833C>T - - BUB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3035T>G - - Parent #1 - VUS g.111397346A>C - - - BUB1_000002 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.3092A>T - - Parent #1 - VUS g.111395707T>A - - - BUB1_000001 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. Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
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