Full data view for gene CUL4B

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

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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ID_report     

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Owner     
-?/. - c.26G>A r.(?) p.(Gly9Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>A r.(?) p.(Gly9Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>A r.(?) p.(Gly9Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65G>A r.(?) p.(Gly22Asp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.68-5940_68-193del r.0 p.0 Maternal (confirmed) - 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 Vulto-van Silfhout, submitted - - Germline - - - 0 - DNA arrayCGH, SEQ-NG - - MRX15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
+/. 2i c.68-5940_68-193del r.0 p.0 Maternal (confirmed) - pathogenic g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 complete loss RNA expression patient LCLs, CUL4A expression unchanged PubMed: Wibley 2010 - - Germline yes - - 0 - DNA, RNA arrayCGH, PCR, RT-PCR, SEQ LCL - MRX;IDX - PubMed: Wibley 2010 4-generation family, 7 affecteds, unafected carrier females M no - - - 0 - - 7 Johan den Dunnen
-?/. - c.87C>T r.(?) p.(Pro29=) Unknown - - g.119694461G>A - CUL4B(NM_003588.3):c.87C>T (p.P29=) - CUL4B_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.149C>T r.(?) p.(Pro50Leu) Maternal (confirmed) - pathogenic g.119694399G>A g.120560544G>A - - CUL4B_000013 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - - - - - - 0 - - 2 Anneke Vulto-van Silfhout
+?/. - c.149C>T r.(?) p.(Pro50Leu) Unknown - - g.119694399G>A - - - CUL4B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194_202del r.(?) p.(Ser65_Ser67del) Unknown - likely benign g.119694356_119694364del g.120560501_120560509del CUL4B(NM_001079872.1):c.140_148del (p.(Ser47_Ser49del)), CUL4B(NM_003588.3):c.194_202delGCAGCAGTA (p.S65_S67del) - CUL4B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.194_202del r.(?) p.(Ser65_Ser67del) Unknown - benign g.119694356_119694364del g.120560501_120560509del CUL4B(NM_001079872.1):c.140_148del (p.(Ser47_Ser49del)), CUL4B(NM_003588.3):c.194_202delGCAGCAGTA (p.S65_S67del) - CUL4B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373C>G r.(?) p.(Leu125Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.429_431del r.(?) p.(Ser146del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/? 3 c.429_431dup r.(?) p.(Ser146dup) Unknown - likely pathogenic g.119694134_119694136dup g.120560279_120560281dup - - CUL4B_000010 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - M - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+/. 3 c.481_482del r.(?) p.(Ser161Tyrfs*24) Maternal (confirmed) - pathogenic g.119694068_119694069del g.120560213_120560214del - - CUL4B_000014 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - - - - - - 0 - - 2 Anneke Vulto-van Silfhout
./. - c.481_482del r.(?) p.(Ser161Tyrfs*24) Maternal (confirmed) - pathogenic g.119694068_119694069del g.120560213_120560214del CUL4B S143Yfs*24 - CUL4B_000059 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD287 PubMed: Hu 2016 family, 2 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
?/? 4 c.638C>T r.(?) p.(Thr213Ile) Parent #1 - VUS g.119691867G>A g.120558012G>A - - CUL4B_000007 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377139-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.648C>A r.(?) p.(Thr216=) Unknown - - g.119691857G>T - CUL4B(NM_003588.3):c.648C>A (p.T216=) - CUL4B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.750C>A r.(?) p.(Tyr250Ter) Unknown - likely pathogenic g.119681071G>T g.120547216G>T - - CUL4B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.809del r.(?) p.(Ala270Aspfs*17) Maternal (confirmed) - pathogenic g.119681012del g.120547157del CUL4B A252Dfs*17 - CUL4B_000058 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamT131 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. - c.811_812del r.(?) p.(Gln271Aspfs*11) Maternal (confirmed) - pathogenic (recessive) g.119681011_119681012del g.120547156_120547157del - - CUL4B_000074 - PubMed: Redin 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 226-gene ID panel ID APN-137 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother M - France - - 0 - - 1 Johan den Dunnen
-?/. - c.817C>A r.(?) p.(His273Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.817C>G r.(?) p.(His273Asp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.830+11dup r.(=) p.(=) Unknown - likely benign g.119680984dup g.120547129dup CUL4B(NM_003588.3):c.830+11dupT - CUL4B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.830+12A>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.831-12C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.867T>C r.(?) p.(Ile289=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.901-10del r.(=) p.(=) Unknown - benign g.119679390del g.120545535del CUL4B(NM_003588.3):c.901-10delT - CUL4B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.923dup r.(?) p.(Leu308PhefsTer5) Unknown - likely pathogenic g.119679356dup g.120545501dup - - CUL4B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.949C>T r.(?) p.(Gln317Ter) Unknown - pathogenic g.119679324G>A g.120545469G>A - - CUL4B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.964C>T r.(?) p.(Pro322Ser) Unknown - VUS g.119679309G>A g.120545454G>A - - CUL4B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003C>T r.(?) p.(His335Tyr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 8 c.1007_1011del r.(?) p.(Ile336Lysfs*2) Parent #1 - VUS g.119678465_119678469del g.120544610_120544614del 1007_1011delTTATA - CUL4B_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377133-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 8 c.1007_1011del r.(?) p.(Ile336Lysfs*2) Maternal (confirmed) - pathogenic g.119678465_119678469del g.120544610_120544614del - - CUL4B_000001 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - M - - - - 0 - - 1 Anneke Vulto-van Silfhout
./. - c.1007_1011del r.(?) p.(Ile336Lysfs*2) Maternal (confirmed) - pathogenic g.119678465_119678469del g.120544610_120544614del CUL4B I318Kfs*2 - CUL4B_000057 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN146 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-/. - c.1138-38C>T r.(=) p.(=) Unknown - benign g.119678096G>A g.120544241G>A CUL4B(NM_003588.3):c.1138-38C>T - CUL4B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1139T>G r.(?) p.(Ile380Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1148A>G r.(?) p.(Asp383Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 9 c.1162C>T r.(?) p.(Arg388*) Parent #1 - VUS g.119678034G>A g.120544179G>A - - CUL4B_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377134-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 9 c.1162C>T r.(?) p.(Arg388*) Parent #1 ACMG pathogenic g.119678034G>A g.120544179G>A - - CUL4B_000002 - PubMed: Tumienė 2018 - - Germline - - - 0 - DNA SEQ-NG - WES ? 29286531-Pat17 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - 1 Johan den Dunnen
+/. - c.1162C>T r.(?) p.(Arg388Ter) Unknown - pathogenic g.119678034G>A g.120544179G>A CUL4B(NM_003588.3):c.1162C>T (p.R388*) - CUL4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1258C>G r.(?) p.(Arg420Gly) Maternal (confirmed) ACMG likely pathogenic (recessive) g.119677634G>C g.120543779G>C - - CUL4B_000076 - PubMed: Helbig 2016 - - Germline - - - 0 - DNA SEQ-NG - WES seizures Pat29 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.1293_1296del r.(?) p.(Tyr431Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311-19T>C r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1311-9del r.(=) p.(=) Unknown - benign g.119676907del g.120543052del CUL4B(NM_003588.3):c.1311-9delT - CUL4B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1378+15G>A r.(=) p.(=) Unknown - benign g.119676806C>T g.120542951C>T CUL4B(NM_003588.3):c.1378+15G>A - CUL4B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1450C>T r.(?) p.(Arg484*) Maternal (confirmed) - pathogenic g.119675504G>A g.120541649G>A CUL4B R466* - CUL4B_000056 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP194 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. 12 c.1450C>T r.(?) p.(Arg484*) Unknown ACMG pathogenic g.119675504G>A g.120541649G>A - - CUL4B_000056 - - - - De novo - - - 0 - DNA SEQ-NG-IT Blood whole exome sequencing LFIT-2, MRX15, SOPH ED2150 Ritelli et al., 2020 submitted - M no Italy - - 0 - - 1 Marco Ritelli
?/. - c.1451_1462del r.(?) p.(Arg484_Val487del) Unknown - VUS g.119675498_119675509del g.120541643_120541654del - - CUL4B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1497+76C>T r.(=) p.(=) Unknown - benign g.119675381G>A g.120541526G>A CUL4B(NM_003588.3):c.1497+76C>T - CUL4B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1497+102del r.(=) p.(=) Unknown - benign g.119675367del g.120541512del CUL4B(NM_003588.3):c.1497+102delT - CUL4B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1599C>T r.(?) p.(Cys533=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 14 c.1714C>T r.(?) p.(Arg572Cys) Parent #1 - VUS g.119673204G>A g.120539349G>A - - CUL4B_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377135-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.1728del r.(?) p.(Glu577LysfsTer15) Unknown - likely pathogenic g.119673192del g.120539337del CUL4B(NM_003588.3):c.1728del (p.(Glu577LysfsTer15)) - CUL4B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1776C>T r.(?) p.(Ile592=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1858_1860dup r.(?) p.(Ser620dup) Maternal (confirmed) - pathogenic g.119672561_119672563dup g.120538706_120538708dup CUL4B insGCA S603_D604insA - CUL4B_000055 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP142 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. 15 c.1860_1862dup r.(?) p.(Ala621dup) Maternal (confirmed) - pathogenic g.119672559_119672561dup g.120538704_120538706dup - - CUL4B_000019 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - M - (France) - - 0 - - 3 Anneke Vulto-van Silfhout
+?/. - c.1906+1G>A r.spl p.? Maternal (inferred) ACMG likely pathogenic g.119672514C>T g.120538659C>T - - CUL4B_000075 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat28 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 15i c.1906+1G>T r.1796_1906del p.Gly599_His635del Maternal (confirmed) - pathogenic g.119672514C>A g.120538659C>A - - CUL4B_000016 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MRX15 - - - M - - - - 0 - - 1 Anneke Vulto-van Silfhout
./. - c.1906+1G>T r.spl? p.? Maternal (confirmed) - pathogenic g.119672514C>A g.120538659C>A CUL4B splice donor - CUL4B_000016 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD102 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-?/. - c.1911C>T r.(?) p.(Cys637=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>T r.(?) p.(Cys637=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>T r.(?) p.(Cys637=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1993-5T>C r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2016G>A r.(?) p.(Pro672=) Unknown - - g.119670866C>T - CUL4B(NM_003588.3):c.2016G>A (p.P672=) - CUL4B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 17 c.2060G>A r.(?) p.(Trp687*) Maternal (confirmed) - pathogenic g.119670822C>T g.120536967C>T - - CUL4B_000009 - - - - Germline ? - - 0 - DNA SEQ - - MRX;IDX - - - M - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+/. - c.2061G>A r.(?) p.(Trp687Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2193_2194del r.(?) p.(Leu732Lysfs*5) Both (homozygous) - pathogenic g.119669710_119669711del g.120535855_120535856del 2193_2194delGT - CUL4B_000050 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
?/. 18i c.2214+101_2214+102del r.(=) p.(=) Unknown - VUS g.119669584_119669585del g.120535729_120535730del - - CUL4B_000012 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 18i c.2214+101_2214+104del r.(=) p.(=) Unknown - VUS g.119669583_119669586del g.120535728_120535731del - - CUL4B_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2215-15T>G r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 19 c.2234T>C r.(?) p.(Val745Ala) Parent #1 - VUS g.119668422A>G g.120534567A>G - - CUL4B_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377136-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2287A>G r.(?) p.(Ser763Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2320+113del r.(=) p.(=) Unknown - benign g.119668232del g.120534377del CUL4B(NM_003588.3):c.2320+113delT - CUL4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2320+123del r.(=) p.(=) Unknown - benign g.119668221del g.120534366del CUL4B(NM_003588.3):c.2320+123delT - CUL4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 20 c.2353_2355del r.(?) p.(Leu785del) Maternal (confirmed) - pathogenic g.119666416_119666418del g.120532561_120532563del - - CUL4B_000020 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - M ? Germany - - 0 yes - 3 Anneke Vulto-van Silfhout
./. - c.2353_2355del r.(?) p.(Leu785del) Maternal (confirmed) - pathogenic g.119666416_119666418del g.120532561_120532563del CUL4B L767del12 - CUL4B_000054 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD112 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
+/. 20 c.2361dup r.(?) p.(Gly788Trpfs*4) Maternal (confirmed) - pathogenic g.119666410dup - - - CUL4B_000017 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
./. - c.2361dup r.(?) p.(Gly788Trpfs*4) Maternal (confirmed) - pathogenic g.119666409dup g.120532554dup CUL4B insA G770Wfs*4 - CUL4B_000017 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD203 PubMed: Hu 2016 family, 3 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
+?/? 20 c.2469C>G r.(?) p.(Ile823Met) Maternal (confirmed) - likely pathogenic g.119666301G>C g.120532446G>C - - CUL4B_000008 - - - - Germline ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Andreas Tzschach
?/? 20 c.2493G>A r.(spl?) p.(=) Parent #1 - VUS g.119666277C>T g.120532422C>T T831T - CUL4B_000005 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377137-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 20i c.2493+3A>G r.[2414_2493del, 2429_2493del] p.Asp806*; p.Asn811* Maternal (confirmed) - pathogenic g.119666274T>C g.120532419T>C - - CUL4B_000018 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MRX15 - - - M - - - - 0 - - 1 Anneke Vulto-van Silfhout
-?/. - c.2493+7C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2494-5G>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 21 c.2566C>T r.(?) p.(Arg856*) Parent #1 - VUS g.119664037G>A g.120530182G>A - - CUL4B_000006 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377138-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 21 c.2590_2593del r.(?) p.(Leu864Alafs*13) Maternal (confirmed) - pathogenic g.119664011_119664014del g.120530156_120530159del - - CUL4B_000021 - - - - Germline yes - - 0 - DNA SEQ-NG blood - MRX15 - - - M no Netherlands Caucasian - 0 yes - 3 Anneke Vulto-van Silfhout
+/. 21 c.2626C>T r.(?) p.(Gln876*) Maternal (confirmed) - pathogenic g.119663977G>A g.120530122G>A - - CUL4B_000015 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
-?/. - c.2712A>G r.(?) p.(Glu904=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
Legend