Unique variants in gene RECQL5

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

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

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     
+/. 1 2 c.130G>A r.spl? p.(Gly44Ser) - pathogenic g.73662508C>T g.75666428C>T - - RECQL5_000052 - - - - Germline no - - - - Alejandra Tavera-Tapia
./. 1 - c.190C>G r.(?) p.(Leu64Val) - VUS g.73661193G>C g.75665113G>C - - RECQL5_000038 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.220A>G r.(?) p.(Ile74Val) - VUS g.73661163T>C g.75665083T>C - - RECQL5_000037 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 3 c.233C>T r.(?) p.(Pro78Leu) - pathogenic g.73661150G>A g.75665070G>A - - RECQL5_000055 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.251A>G r.(?) p.(Gln84Arg) - VUS g.73661132T>C g.75665052T>C - - RECQL5_000036 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 4 c.305C>T r.(?) p.(Ser102Leu) - pathogenic g.73659025G>A g.75662945G>A - - RECQL5_000059 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.442C>T r.(?) p.(Arg148Cys) - VUS g.73658888G>A g.75662808G>A - - RECQL5_000035 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.524G>A r.(?) p.(Arg175His) - VUS g.73658806C>T g.75662726C>T - - RECQL5_000034 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 4 c.539G>A r.(?) p.(Arg180His) - pathogenic g.73658791C>T g.75662711C>T - - RECQL5_000056 - - - - Germline no - - - - Alejandra Tavera-Tapia
./. 1 - c.545G>A r.(?) p.(Arg182His) - VUS g.73658785C>T g.75662705C>T - - RECQL5_000033 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.563G>T r.(?) p.(Cys188Phe) - VUS g.73658767C>A g.75662687C>A - - RECQL5_000032 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 4 c.657del r.(?) p.(Cys220Alafs*15) - pathogenic g.73658675del g.75662595del 657delC - RECQL5_000053 - - - - Germline ? - - - - Alejandra Tavera-Tapia
?/. 1 - c.716A>G r.(?) p.(Tyr239Cys) - 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 - - - - - VKGL-NL_Leiden
./. 1 - c.1048G>C r.(?) p.(Ala350Pro) - VUS g.73654479C>G g.75658399C>G - - RECQL5_000031 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1078C>T r.(?) p.(Arg360Cys) - VUS g.73654449G>A g.75658369G>A - - RECQL5_000030 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.1202C>T r.(?) p.(Ala401Val) - VUS g.73647293G>A g.75651213G>A - - RECQL5_000062 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.1229G>A r.(?) p.(Gly410Glu) - VUS g.73647266C>T g.75651186C>T - - RECQL5_000029 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1229+516T>G r.(=) p.(=) - VUS g.73646750A>C g.75650670A>C - - RECQL5_000028 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1261G>A r.(?) p.(Gly421Arg) - VUS g.73627717C>T g.75631637C>T - - RECQL5_000027 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1321C>T r.(?) p.(Arg441Trp) - VUS g.73627657G>A g.75631577G>A - - RECQL5_000020 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1327C>T r.(?) p.(Arg443Trp) - VUS g.73627651G>A g.75631571G>A - - RECQL5_000019 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 2 - c.1328G>A r.(?) p.(Arg443Gln) - VUS g.73627650C>T g.75631570C>T - - RECQL5_000018 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1346G>A r.(?) p.(Arg449His) - VUS g.73627632C>T g.75631552C>T - - RECQL5_000017 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1375G>T r.(?) p.(Gly459Trp) - VUS g.73627603C>A g.75631523C>A - - RECQL5_000016 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1423C>T r.(?) p.(Arg475Cys) - VUS g.73627555G>A g.75631475G>A - - RECQL5_000015 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1459G>A r.(?) p.(Gly487Ser) - VUS g.73627319C>T g.75631239C>T - - RECQL5_000014 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1536G>A r.(?) p.(Met512Ile) - VUS g.73627242C>T g.75631162C>T - - RECQL5_000013 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1544G>A r.(?) p.(Arg515His) - VUS g.73627234C>T g.75631154C>T - - RECQL5_000012 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 11 c.1556A>C r.(?) p.(Asp519Ala) - VUS g.73627083T>G g.75631003T>G - - RECQL5_000061 - - - - Germline ? - - - - Alejandra Tavera-Tapia
-?/. 1 - c.1586-6_1586-5dup r.spl? p.? - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.1586-5dup r.spl? p.? - likely benign g.73626933dup g.75630853dup RECQL5(NM_004259.6):c.1586-5dupC (p.?) - RECQL5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 13 c.1648C>T r.(?) p.(Arg550Trp) - VUS g.73626769G>A g.75630689G>A - - RECQL5_000057 - - - - Germline no - - - - Alejandra Tavera-Tapia
?/. 1 14 c.1810_1812del r.spl? p.(Lys604del) - VUS g.73626268_73626270del g.75630188_75630190del 1812delAAG - RECQL5_000011 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 3 - c.1883G>A r.(?) p.(Ser628Asn) - VUS g.73625852C>T g.75629772C>T - - RECQL5_000010 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1921A>G r.(?) p.(Ile641Val) - VUS g.73625814T>C g.75629734T>C - - RECQL5_000009 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.1961G>C r.(?) p.(Arg654Pro) - VUS g.73625542C>G g.75629462C>G - - RECQL5_000008 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./., -?/. 2 - c.1994C>T r.(?) p.(Pro665Leu) - VUS, likely benign g.73625509G>A g.75629429G>A RECQL5(NM_004259.6):c.1994C>T (p.(Pro665Leu)) - RECQL5_000007 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - Germline, CLASSIFICATION record - - - - - Melissa DeRycke, VKGL-NL_Leiden
./. 3 - c.2060G>C r.(?) p.(Arg687Pro) - VUS g.73625443C>G g.75629363C>G - - RECQL5_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2081C>T r.(?) p.(Pro694Leu) - VUS g.73625422G>A g.75629342G>A - - RECQL5_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2090C>A r.(?) p.(Pro697His) - VUS g.73625413G>T g.75629333G>T - - RECQL5_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2146G>A r.(?) p.(Val716Ile) - VUS g.73625357C>T g.75629277C>T - - RECQL5_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2188A>G r.(?) p.(Lys730Glu) - VUS g.73625315T>C g.75629235T>C - - RECQL5_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 16 c.2233C>T r.(?) p.(Arg745Trp) - VUS g.73625270G>A g.75629190G>A - - RECQL5_000060 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.2272C>T r.(?) p.(His758Tyr) - VUS g.73625231G>A g.75629151G>A - - RECQL5_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2293G>A r.(?) p.(Ala765Thr) - VUS g.73625210C>T g.75629130C>T - - RECQL5_000026 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2296C>T r.(?) p.(Arg766Cys) - VUS g.73625207G>A g.75629127G>A - - RECQL5_000025 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 2 - c.2324C>T r.(?) p.(Pro775Leu) - VUS g.73625179G>A g.75629099G>A - - RECQL5_000024 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2330T>C r.(?) p.(Leu777Pro) - VUS g.73625173A>G g.75629093A>G - - RECQL5_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2335G>A r.(?) p.(Ala779Thr) - VUS g.73625168C>T g.75629088C>T - - RECQL5_000022 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 16 c.2393dup r.(?) p.(Met799Aspfs*24) - pathogenic g.73625114dup g.75629034dup 2393dupC - RECQL5_000054 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.2444C>T r.(?) p.(Ser815Leu) - VUS g.73625059G>A g.75628979G>A - - RECQL5_000021 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2497C>T r.(?) p.(Pro833Ser) - VUS g.73624835G>A g.75628755G>A - - RECQL5_000047 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2663C>T r.(?) p.(Ser888Leu) - VUS g.73624440G>A g.75628360G>A - - RECQL5_000046 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2671G>A r.(?) p.(Glu891Lys) - VUS g.73624432C>T g.75628352C>T - - RECQL5_000045 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./., -?/. 2 - c.2728G>A r.(?) p.(Val910Ile) - VUS, likely benign g.73624375C>T g.75628295C>T RECQL5(NM_004259.6):c.2728G>A (p.V910I) - RECQL5_000044 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - Germline, CLASSIFICATION record - - - - - Melissa DeRycke, VKGL-NL_Rotterdam
./. 1 - c.2750A>C r.(?) p.(Asn917Thr) - VUS g.73624353T>G g.75628273T>G - - RECQL5_000043 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2806-2A>G r.spl? p.? - pathogenic g.73623774T>C g.75627694T>C - - RECQL5_000042 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2828G>A r.(?) p.(Arg943His) - VUS g.73623750C>T g.75627670C>T - - RECQL5_000041 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.2858C>G r.(?) p.(Thr953Ser) - VUS g.73623720G>C g.75627640G>C - - RECQL5_000063 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.2874C>G r.(?) p.(Ser958Arg) - VUS g.73623704G>C g.75627624G>C - - RECQL5_000040 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.2921G>A r.(?) p.(Arg974Gln) - VUS g.73623557C>T g.75627477C>T - - RECQL5_000039 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 20 c.2926C>T r.(?) p.(Arg976Trp) - VUS g.73623552G>A g.75627472G>A - - RECQL5_000058 - - - - Germline ? - - - - Alejandra Tavera-Tapia
./. 1 - c.2947T>G r.(?) p.(Trp983Gly) - VUS g.73623531A>C g.75627451A>C - - RECQL5_000048 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
-?/. 1 - c.*11030C>T r.(=) p.(=) - - g.73612472G>A - MYO15B(NM_001309242.1):c.6075G>A (p.E2025=) - chr17_008034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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