Unique variants in the CUL4B gene

Information The variants shown are described using the NM_003588.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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     
-?/. 4 - c.26G>A r.(?) p.(Gly9Glu) - likely benign g.119708447C>T g.120574592C>T CUL4B(NM_003588.3):c.26G>A (p.G9E, p.(Gly9Glu)) - CUL4B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.65G>A r.(?) p.(Gly22Asp) - likely benign g.119708408C>T g.120574553C>T CUL4B(NM_003588.3):c.65G>A (p.G22D) - CUL4B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 2i c.68-5940_68-193del r.0 p.0 - pathogenic g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 variant does not affect the gene, but qPCR revealed a complete loss of CUL4B expression, 1 more item Vulto-van Silfhout, submitted, PubMed: Wibley 2010 - - Germline yes - - - - Anneke Vulto-van Silfhout, Johan den Dunnen
-?/. 1 - c.87C>T r.(?) p.(Pro29=) - likely benign g.119694461G>A - CUL4B(NM_003588.3):c.87C>T (p.P29=) - CUL4B_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., +/. 2 3 c.149C>T r.(?) p.(Pro50Leu) - likely pathogenic, pathogenic g.119694399G>A g.120560544G>A - - CUL4B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Anneke Vulto-van Silfhout
-?/., -/. 2 - c.194_202del r.(?) p.(Ser65_Ser67del) - likely benign, benign g.119694356_119694364del g.120560501_120560509del 1 more item - CUL4B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.373C>G r.(?) p.(Leu125Val) - likely benign g.119694175G>C g.120560320G>C CUL4B(NM_003588.3):c.373C>G (p.L125V) - CUL4B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.429_431del r.(?) p.(Ser146del) - likely benign g.119694134_119694136del g.120560279_120560281del CUL4B(NM_003588.3):c.429_431delCTC (p.S146del) - CUL4B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/? 1 3 c.429_431dup r.(?) p.(Ser146dup) - likely pathogenic g.119694134_119694136dup g.120560279_120560281dup - - CUL4B_000010 - - - - Unknown ? - - - - Andreas Tzschach
./., +/. 2 3 c.481_482del r.(?) p.(Ser161Tyrfs*24) - pathogenic g.119694068_119694069del g.120560213_120560214del CUL4B S143Yfs*24 - CUL4B_000059, CUL4B_000014 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen, Anneke Vulto-van Silfhout
+?/. 1 - c.488T>A r.(?) p.(Leu163*) - likely pathogenic g.119694060A>T g.120560205A>T - - CUL4B_000083 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/? 1 4 c.638C>T r.(?) p.(Thr213Ile) - VUS g.119691867G>A g.120558012G>A - - CUL4B_000007 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
-?/. 1 - c.648C>A r.(?) p.(Thr216=) - likely benign g.119691857G>T - CUL4B(NM_003588.3):c.648C>A (p.T216=) - CUL4B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.750C>A r.(?) p.(Tyr250Ter) - likely pathogenic g.119681071G>T g.120547216G>T - - CUL4B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.809del r.(?) p.(Ala270Aspfs*17) - pathogenic g.119681012del g.120547157del CUL4B A252Dfs*17 - CUL4B_000058 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.811_812del r.(?) p.(Gln271Aspfs*11) - pathogenic (recessive) g.119681011_119681012del g.120547156_120547157del - - CUL4B_000074 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.817C>A r.(?) p.(His273Asn) - likely benign g.119681004G>T g.120547149G>T CUL4B(NM_003588.3):c.817C>A (p.H273N) - CUL4B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.817C>G r.(?) p.(His273Asp) - VUS g.119681004G>C g.120547149G>C CUL4B(NM_001079872.1):c.763C>G (p.(His255Asp)) - CUL4B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.830+11dup r.(=) p.(=) - likely benign g.119680984dup g.120547129dup CUL4B(NM_003588.3):c.830+11dupT - CUL4B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.830+12A>T r.(=) p.(=) - likely benign g.119680979T>A g.120547124T>A CUL4B(NM_003588.3):c.830+12A>T - CUL4B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.831-12C>T r.(=) p.(=) - likely benign g.119680483G>A g.120546628G>A CUL4B(NM_003588.3):c.831-12C>T - CUL4B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.846C>T r.(?) p.(Ser282=) - likely benign g.119680456G>A - CUL4B(NM_003588.3):c.846C>T (p.S282=) - CUL4B_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.857dup r.(?) p.(Leu286Phefs*5) - likely pathogenic g.119680445dup g.120546590dup - - CUL4B_000082 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.867T>C r.(?) p.(Ile289=) - likely benign g.119680435A>G g.120546580A>G CUL4B(NM_003588.3):c.867T>C (p.I289=) - CUL4B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.901-10del r.(=) p.(=) - benign g.119679390del g.120545535del CUL4B(NM_003588.3):c.901-10delT - CUL4B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.923dup r.(?) p.(Leu308PhefsTer5) - likely pathogenic g.119679356dup g.120545501dup - - CUL4B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.949C>T r.(?) p.(Gln317Ter) - pathogenic g.119679324G>A g.120545469G>A - - CUL4B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.964C>T r.(?) p.(Pro322Ser) - VUS g.119679309G>A g.120545454G>A - - CUL4B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1003C>T r.(?) p.(His335Tyr) - likely benign g.119678470G>A g.120544615G>A CUL4B(NM_003588.3):c.1003C>T (p.H335Y) - CUL4B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./., ?/?, +/. 3 8 c.1007_1011del r.(?) p.(Ile336Lysfs*2) - pathogenic, VUS g.119678465_119678469del g.120544610_120544614del CUL4B I318Kfs*2, 1007_1011delTTATA - CUL4B_000057, CUL4B_000001 found once, non-recurrent change PubMed: Hu 2016, PubMed: Tarpey 2009 - - Germline yes, ? 1/208 cases - - - Johan den Dunnen, Lucy Raymond, Anneke Vulto-van Silfhout
-/. 1 - c.1138-38C>T r.(=) p.(=) - benign g.119678096G>A g.120544241G>A CUL4B(NM_003588.3):c.1138-38C>T - CUL4B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1139T>G r.(?) p.(Ile380Ser) - likely benign g.119678057A>C g.120544202A>C CUL4B(NM_003588.3):c.1139T>G (p.I380S) - CUL4B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1148A>G r.(?) p.(Asp383Gly) - likely benign g.119678048T>C g.120544193T>C CUL4B(NM_003588.3):c.1148A>G (p.D383G) - CUL4B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/?, +/. 3 9 c.1162C>T r.(?) p.(Arg388*), p.(Arg388Ter) ACMG VUS, pathogenic g.119678034G>A g.120544179G>A CUL4B(NM_003588.3):c.1162C>T (p.R388*) - CUL4B_000002 found once, non-recurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009, PubMed: Tumienė 2018 - - Germline, CLASSIFICATION record ? 1/208 cases - - - Lucy Raymond, VKGL-NL_Groningen, Johan den Dunnen
+?/. 1 - c.1258C>G r.(?) p.(Arg420Gly) ACMG likely pathogenic (recessive) g.119677634G>C g.120543779G>C - - CUL4B_000076 - PubMed: Helbig 2016 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1293_1296del r.(?) p.(Tyr431Ter) - likely pathogenic g.119677603_119677606del g.120543748_120543751del CUL4B(NM_003588.3):c.1293_1296delCTTA (p.Y431*) - CUL4B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1311-19T>C r.(=) p.(=) - likely benign g.119676907A>G g.120543052A>G CUL4B(NM_003588.3):c.1311-19T>C - CUL4B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1311-9del r.(=) p.(=) - benign g.119676907del g.120543052del CUL4B(NM_003588.3):c.1311-9delT - CUL4B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1378+15G>A r.(=) p.(=) - benign g.119676806C>T g.120542951C>T CUL4B(NM_003588.3):c.1378+15G>A - CUL4B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./., +?/., +/. 3 12 c.1450C>T r.(?) p.(Arg484*) ACMG pathogenic, likely pathogenic g.119675504G>A g.120541649G>A CUL4B R466* - CUL4B_000056 - PubMed: Hu 2016, PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline, Germline/De novo (untested), De novo yes - - - - Johan den Dunnen, Marco Ritelli
?/. 1 - c.1451_1462del r.(?) p.(Arg484_Val487del) - VUS g.119675498_119675509del g.120541643_120541654del - - CUL4B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1482G>A r.(?) p.(Trp494*) - likely pathogenic g.119675472C>T g.120541617C>T - - CUL4B_000081 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-/. 1 - c.1497+76C>T r.(=) p.(=) - benign g.119675381G>A g.120541526G>A CUL4B(NM_003588.3):c.1497+76C>T - CUL4B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1497+102del r.(=) p.(=) - benign g.119675367del g.120541512del CUL4B(NM_003588.3):c.1497+102delT - CUL4B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1599C>T r.(?) p.(Cys533=) - likely benign g.119674316G>A g.120540461G>A CUL4B(NM_003588.3):c.1599C>T (p.C533=) - CUL4B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 14 c.1714C>T r.(?) p.(Arg572Cys) - VUS g.119673204G>A g.120539349G>A - - CUL4B_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
+?/. 1 - c.1728del r.(?) p.(Glu577LysfsTer15) - likely pathogenic g.119673192del g.120539337del CUL4B(NM_003588.3):c.1728del (p.(Glu577LysfsTer15)) - CUL4B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1776C>T r.(?) p.(Ile592=) - likely benign g.119673142G>A g.120539287G>A CUL4B(NM_003588.3):c.1776C>T (p.I592=) - CUL4B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.1858_1860dup r.(?) p.(Ser620dup) - pathogenic g.119672561_119672563dup g.120538706_120538708dup CUL4B insGCA S603_D604insA - CUL4B_000055 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 15 c.1860_1862dup r.(?) p.(Ala621dup) - pathogenic g.119672559_119672561dup g.120538704_120538706dup - - CUL4B_000019 - - - - Germline yes - - - - Anneke Vulto-van Silfhout
+?/. 1 - c.1906+1G>A r.spl p.? ACMG likely pathogenic g.119672514C>T g.120538659C>T - - CUL4B_000075 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
./., +/. 2 15i c.1906+1G>T r.spl?, r.1796_1906del p.?, p.Gly599_His635del - pathogenic g.119672514C>A g.120538659C>A CUL4B splice donor - CUL4B_000016 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen, Anneke Vulto-van Silfhout
-?/. 3 - c.1911C>T r.(?) p.(Cys637=) - likely benign g.119672060G>A g.120538205G>A CUL4B(NM_003588.3):c.1911C>T (p.C637=) - CUL4B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.1993-5T>C r.spl? p.? - likely benign g.119670894A>G g.120537039A>G CUL4B(NM_003588.3):c.1993-5T>C - CUL4B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2016G>A r.(?) p.(Pro672=) - likely benign g.119670866C>T - CUL4B(NM_003588.3):c.2016G>A (p.P672=) - CUL4B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 17 c.2060G>A r.(?) p.(Trp687*) - pathogenic g.119670822C>T g.120536967C>T - - CUL4B_000009 - - - - Germline ? - - - - Andreas Tzschach
+/. 1 - c.2061G>A r.(?) p.(Trp687Ter) - pathogenic g.119670821C>T g.120536966C>T CUL4B(NM_003588.3):c.2061G>A (p.W687*) - CUL4B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2193_2194del r.(?) p.(Leu732Lysfs*5) - pathogenic g.119669710_119669711del g.120535855_120535856del 2193_2194delGT - CUL4B_000050 - - - - Unknown - - - - - IMGAG
?/. 1 18i c.2214+101_2214+102del r.(=) p.(=) - VUS g.119669584_119669585del g.120535729_120535730del - - CUL4B_000012 - - - - Germline - - - - - Yu Sun
?/. 1 18i c.2214+101_2214+104del r.(=) p.(=) - VUS g.119669583_119669586del g.120535728_120535731del - - CUL4B_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2215-15T>G r.(=) p.(=) - likely benign g.119668456A>C g.120534601A>C CUL4B(NM_003588.3):c.2215-15T>G - CUL4B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2215-2A>G r.spl p.? - likely pathogenic g.119668443T>C g.120534588T>C - - CUL4B_000080 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/? 1 19 c.2234T>C r.(?) p.(Val745Ala) - VUS g.119668422A>G g.120534567A>G - - CUL4B_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
?/. 1 - c.2287A>G r.(?) p.(Ser763Gly) - VUS g.119668369T>C g.120534514T>C CUL4B(NM_003588.3):c.2287A>G (p.S763G) - CUL4B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2320+113del r.(=) p.(=) - benign g.119668232del g.120534377del CUL4B(NM_003588.3):c.2320+113delT - CUL4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2320+123del r.(=) p.(=) - benign g.119668221del g.120534366del CUL4B(NM_003588.3):c.2320+123delT - CUL4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., ./. 2 20 c.2353_2355del r.(?) p.(Leu785del) - pathogenic g.119666416_119666418del g.120532561_120532563del CUL4B L767del12 - CUL4B_000020, CUL4B_000054 - PubMed: Hu 2016 - - Germline yes - - - - Anneke Vulto-van Silfhout, Johan den Dunnen
./., +/. 2 20 c.2361dup r.(?) p.(Gly788Trpfs*4) - pathogenic g.119666409dup, g.119666410dup g.120532554dup CUL4B insA G770Wfs*4 - CUL4B_000017 1 more item PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen, Anneke Vulto-van Silfhout
+?/? 1 20 c.2469C>G r.(?) p.(Ile823Met) - likely pathogenic g.119666301G>C g.120532446G>C - - CUL4B_000008 - - - - Germline ? - - - - Andreas Tzschach
?/? 1 20 c.2493G>A r.(spl?) p.(=) - VUS g.119666277C>T g.120532422C>T T831T - CUL4B_000005 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
+/. 1 20i c.2493+3A>G r.[2414_2493del, 2429_2493del] p.Asp806*; p.Asn811* - pathogenic g.119666274T>C g.120532419T>C - - CUL4B_000018 - - - - Germline yes - - - - Anneke Vulto-van Silfhout
-?/. 1 - c.2493+7C>T r.(=) p.(=) - likely benign g.119666270G>A g.120532415G>A CUL4B(NM_003588.3):c.2493+7C>T - CUL4B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2494-5G>T r.spl? p.? - likely benign g.119664114C>A g.120530259C>A CUL4B(NM_003588.3):c.2494-5G>T - CUL4B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 21 c.2566C>T r.(?) p.(Arg856*) - VUS g.119664037G>A g.120530182G>A - - CUL4B_000006 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
+/. 1 21 c.2590_2593del r.(?) p.(Leu864Alafs*13) - pathogenic g.119664011_119664014del g.120530156_120530159del - - CUL4B_000021 - - - - Germline yes - - - - Anneke Vulto-van Silfhout
+/. 1 21 c.2626C>T r.(?) p.(Gln876*) - pathogenic g.119663977G>A g.120530122G>A - - CUL4B_000015 - - - - Germline yes - - - - Anneke Vulto-van Silfhout
-?/. 1 - c.2712A>G r.(?) p.(Glu904=) - likely benign g.119660646T>C g.120526791T>C CUL4B(NM_003588.3):c.2712A>G (p.E904=) - CUL4B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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