Full data view for gene RECQL5

Information The variants shown are described using the NM_004259.6 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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DNA change (genomic) (hg19)     

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ClinVar ID     

dbSNP ID     

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+/. 2 c.130G>A r.spl? p.(Gly44Ser) Unknown - pathogenic g.73662508C>T g.75666428C>T - - RECQL5_000052 - - - - Germline no - - - - DNA SEQ Blood - BROVCA - - - F no Spain - - - - - 4 Alejandra Tavera-Tapia
+?/. - c.130G>A r.(130g>a) p.(Gly44Ser) Unknown other likely pathogenic g.73662508C>T - - - RECQL5_000052 - - - - Germline - - - - - DNA SEQ-NG-I - - cancer, breast - - - F - Spain - - - - - 1 Ana Osorio
./. - c.190C>G r.(?) p.(Leu64Val) Parent #1 - VUS g.73661193G>C g.75665113G>C - - RECQL5_000038 - 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 - 3 Melissa DeRycke
./. - c.220A>G r.(?) p.(Ile74Val) Parent #1 - VUS g.73661163T>C g.75665083T>C - - RECQL5_000037 - 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
+/. 3 c.233C>T r.(?) p.(Pro78Leu) Unknown - pathogenic g.73661150G>A g.75665070G>A - - RECQL5_000055 - - - - Germline ? - - - - DNA SEQ Blood - BROVCA - - - F no Spain - - - - - 1 Alejandra Tavera-Tapia
./. - c.251A>G r.(?) p.(Gln84Arg) Parent #1 - VUS g.73661132T>C g.75665052T>C - - RECQL5_000036 - 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
+/. 4 c.305C>T r.(?) p.(Ser102Leu) Unknown - pathogenic g.73659025G>A g.75662945G>A - - RECQL5_000059 - - - - Germline ? - - - - DNA SEQ Blood - Healthy/Control - - - F ? Spain - - - - - 1 Alejandra Tavera-Tapia
?/. - c.386C>T r.(?) p.(Thr129Ile) Unknown - VUS g.73658944G>A - RECQL5(NM_004259.6):c.386C>T (p.T129I) - RECQL5_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.442C>T r.(?) p.(Arg148Cys) Parent #1 - VUS g.73658888G>A g.75662808G>A - - RECQL5_000035 - 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.524G>A r.(?) p.(Arg175His) Parent #1 - VUS g.73658806C>T g.75662726C>T - - RECQL5_000034 - 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
+/. 4 c.539G>A r.(?) p.(Arg180His) Unknown - pathogenic g.73658791C>T g.75662711C>T - - RECQL5_000056 - - - - Germline no - - - - DNA SEQ Blood - BROVCA - - - F no Spain - - - - - 2 Alejandra Tavera-Tapia
./. - c.545G>A r.(?) p.(Arg182His) Parent #1 - VUS g.73658785C>T g.75662705C>T - - RECQL5_000033 - 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 - 2 Melissa DeRycke
./. - c.563G>T r.(?) p.(Cys188Phe) Parent #1 - VUS g.73658767C>A g.75662687C>A - - RECQL5_000032 - 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
+/. 4 c.657del r.(?) p.(Cys220Alafs*15) Unknown - pathogenic g.73658675del g.75662595del 657delC - RECQL5_000053 - - - - Germline ? - - - - DNA SEQ Blood - BROVCA - - - F no Spain - - - - - 2 Alejandra Tavera-Tapia
+?/. - c.657del r.(657del) p.(Cys220Alafs*15) Unknown other likely pathogenic g.73658675del g.75662595del 657delC - RECQL5_000053 - - - - Germline - - - - - DNA SEQ-NG-I - - cancer, breast - - - - - Spain - - - - - 1 Ana Osorio
?/. - c.665G>A r.(?) p.(Arg222Gln) Unknown - VUS g.73658665C>T - RECQL5(NM_004259.6):c.665G>A (p.R222Q) - RECQL5_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716A>G r.(?) p.(Tyr239Cys) Unknown - VUS g.73658614T>C g.75662534T>C RECQL5(NM_001003715.3):c.716A>G (p.(Tyr239Cys)) - RECQL5_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994G>A r.(?) p.(Ala332Thr) Unknown - VUS g.73654533C>T - RECQL5(NM_004259.6):c.994G>A (p.A332T) - RECQL5_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1048G>C r.(?) p.(Ala350Pro) Parent #1 - VUS g.73654479C>G g.75658399C>G - - RECQL5_000031 - 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.1078C>T r.(?) p.(Arg360Cys) Parent #1 - VUS g.73654449G>A g.75658369G>A - - RECQL5_000030 - 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.1202C>T r.(?) p.(Ala401Val) Unknown - VUS g.73647293G>A g.75651213G>A - - RECQL5_000062 - - - - Germline ? - - - - DNA SEQ Blood - BROVCA - - - F ? Spain - - - - - 1 Alejandra Tavera-Tapia
./. - c.1229G>A r.(?) p.(Gly410Glu) Parent #1 - VUS g.73647266C>T g.75651186C>T - - RECQL5_000029 - 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.1229+516T>G r.(=) p.(=) Parent #1 - VUS g.73646750A>C g.75650670A>C - - RECQL5_000028 - 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.1261G>A r.(?) p.(Gly421Arg) Parent #1 - VUS g.73627717C>T g.75631637C>T - - RECQL5_000027 - 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.1321C>T r.(?) p.(Arg441Trp) Parent #1 - VUS g.73627657G>A g.75631577G>A - - RECQL5_000020 - 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.1327C>T r.(?) p.(Arg443Trp) Parent #1 - VUS g.73627651G>A g.75631571G>A - - RECQL5_000019 - 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.1328G>A r.(?) p.(Arg443Gln) Parent #1 - VUS g.73627650C>T g.75631570C>T - - RECQL5_000018 - 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 - 2 Melissa DeRycke
./. - c.1328G>A r.(?) p.(Arg443Gln) Parent #1 - VUS g.73627650C>T g.75631570C>T - - RECQL5_000018 - 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 - 4 Melissa DeRycke
./. - c.1346G>A r.(?) p.(Arg449His) Parent #1 - VUS g.73627632C>T g.75631552C>T - - RECQL5_000017 - 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 - 3 Melissa DeRycke
./. - c.1375G>T r.(?) p.(Gly459Trp) Parent #1 - VUS g.73627603C>A g.75631523C>A - - RECQL5_000016 - 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.1423C>T r.(?) p.(Arg475Cys) Parent #1 - VUS g.73627555G>A g.75631475G>A - - RECQL5_000015 - 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.1459G>A r.(?) p.(Gly487Ser) Parent #1 - VUS g.73627319C>T g.75631239C>T - - RECQL5_000014 - 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.1536G>A r.(?) p.(Met512Ile) Parent #1 - VUS g.73627242C>T g.75631162C>T - - RECQL5_000013 - 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 - 3 Melissa DeRycke
./. - c.1544G>A r.(?) p.(Arg515His) Parent #1 - VUS g.73627234C>T g.75631154C>T - - RECQL5_000012 - 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
?/. 11 c.1556A>C r.(?) p.(Asp519Ala) Unknown - VUS g.73627083T>G g.75631003T>G - - RECQL5_000061 - - - - Germline ? - - - - DNA SEQ Blood - Healthy/Control - - - F ? Spain - - - - - 1 Alejandra Tavera-Tapia
-?/. - c.1586-6_1586-5dup r.spl? p.? Unknown - likely benign g.73626932_73626933dup g.75630852_75630853dup RECQL5(NM_004259.6):c.1586-5_1586-4insCC (p.?) - RECQL5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1586-5dup r.spl? p.? Unknown - likely benign g.73626933dup g.75630853dup RECQL5(NM_004259.6):c.1586-5dupC (p.?) - RECQL5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1648C>T r.(?) p.(Arg550Trp) Unknown - VUS g.73626769G>A g.75630689G>A - - RECQL5_000057 - - - - Germline no - - - - DNA SEQ Blood - BROVCA - - - F no Spain - - - - - 2 Alejandra Tavera-Tapia
?/. 14 c.1810_1812del r.spl? p.(Lys604del) Parent #1 - VUS g.73626268_73626270del g.75630188_75630190del 1812delAAG - RECQL5_000011 - 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.1883G>A r.(?) p.(Ser628Asn) Parent #1 - VUS g.73625852C>T g.75629772C>T - - RECQL5_000010 - 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.1883G>A r.(?) p.(Ser628Asn) Parent #1 - VUS g.73625852C>T g.75629772C>T - - RECQL5_000010 - 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.1883G>A r.(?) p.(Ser628Asn) Both (homozygous) - VUS g.73625852C>T g.75629772C>T - - RECQL5_000010 - 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.1921A>G r.(?) p.(Ile641Val) Parent #1 - VUS g.73625814T>C g.75629734T>C - - RECQL5_000009 - 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.1961G>A r.(?) p.(Arg654Gln) Unknown - VUS g.73625542C>T - RECQL5(NM_004259.6):c.1961G>A (p.R654Q) - RECQL5_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1961G>C r.(?) p.(Arg654Pro) Parent #1 - VUS g.73625542C>G g.75629462C>G - - RECQL5_000008 - 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.1994C>T r.(?) p.(Pro665Leu) Parent #1 - VUS g.73625509G>A g.75629429G>A - - RECQL5_000007 - 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 - 3 Melissa DeRycke
-?/. - c.1994C>T r.(?) p.(Pro665Leu) Unknown - likely benign g.73625509G>A g.75629429G>A RECQL5(NM_004259.6):c.1994C>T (p.(Pro665Leu)) - RECQL5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2060G>C r.(?) p.(Arg687Pro) Parent #1 - VUS g.73625443C>G g.75629363C>G - - RECQL5_000006 - 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.2060G>C r.(?) p.(Arg687Pro) Parent #1 - VUS g.73625443C>G g.75629363C>G - - RECQL5_000006 - 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.2060G>C r.(?) p.(Arg687Pro) Both (homozygous) - VUS g.73625443C>G g.75629363C>G - - RECQL5_000006 - 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.2081C>T r.(?) p.(Pro694Leu) Parent #1 - VUS g.73625422G>A g.75629342G>A - - RECQL5_000005 - 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 - 4 Melissa DeRycke
./. - c.2090C>A r.(?) p.(Pro697His) Parent #1 - VUS g.73625413G>T g.75629333G>T - - RECQL5_000004 - 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.2146G>A r.(?) p.(Val716Ile) Parent #1 - VUS g.73625357C>T g.75629277C>T - - RECQL5_000003 - 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 - 2 Melissa DeRycke
./. - c.2188A>G r.(?) p.(Lys730Glu) Parent #1 - VUS g.73625315T>C g.75629235T>C - - RECQL5_000002 - 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
?/. 16 c.2233C>T r.(?) p.(Arg745Trp) Unknown - VUS g.73625270G>A g.75629190G>A - - RECQL5_000060 - - - - Germline ? - - - - DNA SEQ Blood - Healthy/Control - - - F ? Spain - - - - - 1 Alejandra Tavera-Tapia
./. - c.2272C>T r.(?) p.(His758Tyr) Parent #1 - VUS g.73625231G>A g.75629151G>A - - RECQL5_000001 - 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 - 8 Melissa DeRycke
./. - c.2293G>A r.(?) p.(Ala765Thr) Parent #1 - VUS g.73625210C>T g.75629130C>T - - RECQL5_000026 - 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 - 8 Melissa DeRycke
./. - c.2296C>T r.(?) p.(Arg766Cys) Parent #1 - VUS g.73625207G>A g.75629127G>A - - RECQL5_000025 - 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.2308C>T r.(2308c>u) p.(Arg770*) Unknown other likely pathogenic g.73625195G>A - - - RECQL5_000079 - - - - Germline - - - - - DNA SEQ-NG-I - - cancer, breast - - - - - Spain - - - - - 1 Ana Osorio
./. - c.2324C>T r.(?) p.(Pro775Leu) Parent #1 - VUS g.73625179G>A g.75629099G>A - - RECQL5_000024 - 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.2324C>T r.(?) p.(Pro775Leu) Parent #1 - VUS g.73625179G>A g.75629099G>A - - RECQL5_000024 - 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 - 3 Melissa DeRycke
./. - c.2330T>C r.(?) p.(Leu777Pro) Parent #1 - VUS g.73625173A>G g.75629093A>G - - RECQL5_000023 - 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 - 3 Melissa DeRycke
./. - c.2335G>A r.(?) p.(Ala779Thr) Parent #1 - VUS g.73625168C>T g.75629088C>T - - RECQL5_000022 - 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
+/. 16 c.2393dup r.(?) p.(Met799Aspfs*24) Unknown - pathogenic g.73625114dup g.75629034dup 2393dupC - RECQL5_000054 - - - - Germline ? - - - - DNA SEQ Blood - BROVCA - - - F no Spain - - - - - 1 Alejandra Tavera-Tapia
./. - c.2444C>T r.(?) p.(Ser815Leu) Parent #1 - VUS g.73625059G>A g.75628979G>A - - RECQL5_000021 - 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 - 13 Melissa DeRycke
./. - c.2497C>T r.(?) p.(Pro833Ser) Parent #1 - VUS g.73624835G>A g.75628755G>A - - RECQL5_000047 - 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.2663C>T r.(?) p.(Ser888Leu) Parent #1 - VUS g.73624440G>A g.75628360G>A - - RECQL5_000046 - 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 - 2 Melissa DeRycke
./. - c.2671G>A r.(?) p.(Glu891Lys) Parent #1 - VUS g.73624432C>T g.75628352C>T - - RECQL5_000045 - 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.2728G>A r.(?) p.(Val910Ile) Parent #1 - VUS g.73624375C>T g.75628295C>T - - RECQL5_000044 - 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.2728G>A r.(?) p.(Val910Ile) Unknown - likely benign g.73624375C>T g.75628295C>T RECQL5(NM_004259.6):c.2728G>A (p.V910I) - RECQL5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2750A>C r.(?) p.(Asn917Thr) Parent #1 - VUS g.73624353T>G g.75628273T>G - - RECQL5_000043 - 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 - 6 Melissa DeRycke
+?/. - c.2790C>T r.spl p.(Lys931Serfs*14) Unknown - likely pathogenic g.73624313G>A g.75628233G>A - - RECQL5_000080 - - - - Germline - - - - - DNA SEQ-NG-I - - cancer, breast - - - F - Spain - - - - - 1 Ana Osorio
./. - c.2806-2A>G r.spl? p.? Parent #1 - pathogenic g.73623774T>C g.75627694T>C - - RECQL5_000042 - 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 - 4 Melissa DeRycke
./. - c.2828G>A r.(?) p.(Arg943His) Parent #1 - VUS g.73623750C>T g.75627670C>T - - RECQL5_000041 - 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 - 16 Melissa DeRycke
?/. - c.2858C>G r.(?) p.(Thr953Ser) Unknown - VUS g.73623720G>C g.75627640G>C - - RECQL5_000063 - - - - Germline ? - - - - DNA SEQ Blood - Healthy/Control - - - F ? Spain - - - - - 1 Alejandra Tavera-Tapia
./. - c.2874C>G r.(?) p.(Ser958Arg) Parent #1 - VUS g.73623704G>C g.75627624G>C - - RECQL5_000040 - 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.2874C>G r.(2874c>g) p.(Ser958Arg) Unknown other VUS g.73623704G>C - - - RECQL5_000040 - - - - Germline - - - - - DNA SEQ-NG-I - - cancer, breast - - - - - Spain - - - - - 1 Ana Osorio
./. - c.2921G>A r.(?) p.(Arg974Gln) Parent #1 - VUS g.73623557C>T g.75627477C>T - - RECQL5_000039 - 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
?/. 20 c.2926C>T r.(?) p.(Arg976Trp) Unknown - VUS g.73623552G>A g.75627472G>A - - RECQL5_000058 - - - - Germline ? - - - - DNA SEQ Blood - BROVCA - - - F ? Spain - - - - - 1 Alejandra Tavera-Tapia
./. - c.2947T>G r.(?) p.(Trp983Gly) Parent #1 - VUS g.73623531A>C g.75627451A>C - - RECQL5_000048 - 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.*3574G>T r.(=) p.(=) Unknown - likely benign g.73619928C>A - MYO15B(NM_001309242.1):c.8035C>A (p.P2679T) - RECQL5_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6874G>A r.(=) p.(=) Unknown - VUS g.73616628C>T - MYO15B(NM_001309242.1):c.7523C>T (p.(Ser2508Phe)) - RECQL5_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9303G>A r.(=) p.(=) Unknown - likely benign g.73614199C>T - MYO15B(NM_001309242.1):c.6814-7C>T - RECQL5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11022T>C r.(=) p.(=) Unknown - VUS g.73612480A>G - MYO15B(NM_001309242.1):c.6083A>G (p.(Glu2028Gly)) - RECQL5_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11030C>T r.(=) p.(=) Unknown - likely benign g.73612472G>A - MYO15B(NM_001309242.1):c.6075G>A (p.E2025=) - RECQL5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11035_*11040dup r.(=) p.(=) Unknown - likely benign g.73612491_73612496dup - MYO15B(NM_001309242.1):c.6094_6099dup (p.(Glu2032_Glu2033dup)) - RECQL5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11038_*11040dup r.(=) p.(=) Unknown - likely benign g.73612494_73612496dup - MYO15B(NM_001309242.1):c.6097_6099dup (p.(Glu2033dup)) - RECQL5_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12835G>A r.(=) p.(=) Unknown - likely benign g.73610667C>T - MYO15B(NM_001309242.1):c.5271C>T (p.(Ala1757=)) - RECQL5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*21478T>C r.(=) p.(=) Unknown - VUS g.73602024A>G - MYO15B(NM_001309242.1):c.4100A>G (p.(His1367Arg)) - RECQL5_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*21530G>A r.(=) p.(=) Unknown - likely benign g.73601972C>T - MYO15B(NM_001309242.1):c.4048C>T (p.R1350W) - RECQL5_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*32555dup r.(?) p.(=) Unknown - VUS g.73590949dup - MYO15B(NM_001309242.1):c.3079dupC (p.R1027Pfs*35) - RECQL5_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*37460A>C r.(=) p.(=) Unknown - VUS g.73586042T>G - MYO15B(NM_001309242.1):c.1904T>G (p.(Val635Gly)) - RECQL5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*37894C>T r.(=) p.(=) Unknown - likely benign g.73585608G>A - MYO15B(NM_001309242.1):c.1470G>A (p.E490=) - RECQL5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*38100T>C r.(=) p.(=) Unknown - VUS g.73585402A>G - MYO15B(NM_001309242.1):c.1264A>G (p.(Lys422Glu)) - RECQL5_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*39290G>A r.(=) p.(=) Unknown - VUS g.73584212C>T - MYO15B(NM_001309242.1):c.74C>T (p.(Ser25Leu)) - RECQL5_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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