Full data view for gene CUL7

Information The variants shown are described using the NM_014780.4 transcript reference sequence.

141 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2709G>A r.(?) p.(=) Unknown - VUS g.43024060C>T g.43056322C>T MRPL2(NM_015950.3):c.389G>A (p.(Arg130His)) - MRPL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2350G>T r.(?) p.(=) Unknown - likely benign g.43023701C>A - MRPL2(NM_001300848.1):c.565G>T (p.(Val189Leu)) - CUL7_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-787C>G r.(?) p.(=) Unknown - likely benign g.43022138G>C g.43054400G>C MRPL2(NM_015950.5):c.792C>G (p.R264=) - CUL7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-729C>G r.(?) p.(=) Unknown - VUS g.43022080G>C g.43054342G>C MRPL2(NM_015950.3):c.850C>G (p.(Arg284Gly)) - MRPL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-197C>T r.(?) p.(=) Unknown - likely benign g.43021548G>A g.43053810G>A CUL7(NM_001168370.1):c.49C>T (p.H17Y) - CUL7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-165G>A r.(?) p.(=) Unknown - VUS g.43021516C>T - CUL7(NM_001168370.2):c.-76G>A - CUL7_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82C>T r.(?) p.(Gln28Ter) Unknown - pathogenic g.43020445G>A - - - CUL7_000086 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>T r.(?) p.(Arg46Trp) Parent #1 - VUS g.43020391G>A g.43052653G>A - - CUL7_000043 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141692693 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.136C>T r.(?) p.(Arg46Trp) Unknown - VUS g.43020391G>A - CUL7(NM_001168370.1):c.292C>T (p.(Arg98Trp)) - CUL7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>T r.(?) p.(Arg47Cys) Unknown - VUS g.43020388G>A g.43052650G>A CUL7(NM_001168370.1):c.295C>T (p.(Arg99Cys)) - CUL7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>C r.(?) p.(Gly48Arg) Unknown - VUS g.43020385C>G - CUL7(NM_014780.5):c.142G>C (p.(Gly48Arg)) - CUL7_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183G>A r.(?) p.(Lys61=) Unknown - likely benign g.43020344C>T g.43052606C>T - - CUL7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205A>G r.(?) p.(Met69Val) Unknown - VUS g.43020322T>C - CUL7(NM_014780.5):c.205A>G (p.(Met69Val)) - CUL7_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.263del r.(?) p.(Val88Alafs*27) Both (homozygous) - likely pathogenic (recessive) g.43020264del g.43052526del NM_014780.4:c.263del:p.(Val88Alafs*27) - CUL7_000056 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1575 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
?/. - c.314C>T r.(?) p.(Ser105Phe) Unknown - VUS g.43020213G>A - CUL7(NM_001168370.1):c.470C>T (p.(Ser157Phe)) - CUL7_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.339C>T r.(?) p.(Asp113=) Unknown - benign g.43020188G>A g.43052450G>A - - CUL7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.462del r.(?) p.(Gly155GlufsTer16) Both (homozygous) - pathogenic (recessive) g.43020065del g.43052327del 462delT - CUL7_000078 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam26 PubMed: Huber 2005 see paper - yes Italy - - - - - 1 Johan den Dunnen
?/. - c.533G>T r.(?) p.(Arg178Leu) Parent #1 - VUS g.43019994C>A g.43052256C>A - - CUL7_000042 conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs183865568 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.533G>T r.(?) p.(Arg178Leu) Unknown - likely benign g.43019994C>A - CUL7(NM_001168370.1):c.689G>T (p.(Arg230Leu)) - CUL7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - likely benign g.43019979C>T - CUL7(NM_014780.5):c.548G>A (p.(Arg183Gln)) - CUL7_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580G>A r.(?) p.(Gly194Arg) Unknown - VUS g.43019947C>T - CUL7(NM_014780.5):c.580G>A (p.(Gly194Arg)) - CUL7_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580+5G>C r.spl? p.? Unknown - VUS g.43019942C>G - CUL7(NM_001168370.1):c.741G>C (p.(Glu247Asp)) - CUL7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.581-7G>A r.(=) p.(=) Unknown - likely benign g.43019508C>T - CUL7(NM_014780.5):c.581-7G>A - CUL7_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682G>C r.(?) p.(Ala228Pro) Unknown - VUS g.43019400C>G - CUL7(NM_001168370.1):c.934G>C (p.(Ala312Pro)) - CUL7_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687G>A r.(?) p.(Thr229=) Unknown - likely benign g.43019395C>T g.43051657C>T - - CUL7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.920_929del r.(?) p.(Leu307ProfsTer29) Parent #1 - pathogenic (recessive) g.43019013_43019022del g.43051275_43051284del 920_929delTGGTGCAAGC - CUL7_000017 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam22 PubMed: Huber 2005 see paper - no Austria - - - - - 1 Johan den Dunnen
+/. 4 c.923T>G r.(?) p.(Val308Gly) Parent #1 - pathogenic (recessive) g.43019016A>C g.43051278A>C 923T>G - CUL7_000077 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam12 PubMed: Huber 2005 see paper - no Tunisia - - - - - 1 Johan den Dunnen
?/. - c.935G>A r.(?) p.(Arg312His) Unknown - VUS g.43019004C>T - CUL7(NM_014780.5):c.935G>A (p.(Arg312His)) - CUL7_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.938G>T r.(?) p.(Trp313Leu) Unknown - VUS g.43019001C>A - CUL7(NM_014780.5):c.938G>T (p.(Trp313Leu)) - CUL7_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073G>A r.(?) p.(Arg358His) Unknown - VUS g.43018866C>T - CUL7(NM_001168370.1):c.1325G>A (p.(Arg442His)) - CUL7_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1090G>A r.(?) p.(Ala364Thr) Unknown - likely benign g.43018849C>T g.43051111C>T CUL7(NM_001168370.1):c.1342G>A (p.(Ala448Thr)) - CUL7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1144C>T r.(?) p.(Arg382*) Both (homozygous) - pathogenic (recessive) g.43018795G>A g.43051057G>A NM_014780.4:c.1144C>T:p.(Arg382*) - CUL7_000055 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 08DG00138, 08DG00139 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
+/. - c.1144C>T r.(?) p.(Arg382Ter) Both (homozygous) - pathogenic (recessive) g.43018795G>A g.43051057G>A - - CUL7_000055 - PubMed: Alazami 2016 - - Germline - - - - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam16 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - 2 Johan den Dunnen
-?/. - c.1171_1173del r.(?) p.(Glu391del) Unknown - likely benign g.43018769_43018771del g.43051031_43051033del CUL7(NM_001168370.1):c.1423_1425del (p.(Glu475del)), CUL7(NM_001168370.1):c.1423_1425delGAG (p.E475del) - CUL7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1171_1173del r.(?) p.(Glu391del) Unknown - likely benign g.43018769_43018771del - CUL7(NM_001168370.1):c.1423_1425del (p.(Glu475del)), CUL7(NM_001168370.1):c.1423_1425delGAG (p.E475del) - CUL7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1183G>A r.(?) p.(Gly395Arg) Unknown - VUS g.43018756C>T - CUL7(NM_014780.5):c.1183G>A (p.(Gly395Arg)) - CUL7_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.1234-4_1235del r.spl p.? Both (homozygous) - pathogenic (recessive) g.43018136_43018141del g.43050398_43050403del IVS4-4_–1delCCAG, 1234_1235delCG - CUL7_000076 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam6 PubMed: Huber 2005 see paper - yes Morocco - - - - - 1 Johan den Dunnen
+?/. - c.1274G>A r.(?) p.(Trp425*) Both (homozygous) ACMG pathogenic (recessive) g.43018096C>T - NM_001168370:c.1526G>A p.Trp509* - CUL7_000057 - - - - Germline - - - - - DNA SEQ - - 3MC - - - - - (Brazil) - - - - - 1 Cynthia Silveira
-?/. - c.1387C>T r.(?) p.(Arg463Cys) Unknown - likely benign g.43017883G>A g.43050145G>A CUL7(NM_001168370.1):c.1639C>T (p.R547C) - CUL7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1412A>G r.(?) p.(Tyr471Cys) Unknown - VUS g.43017858T>C g.43050120T>C CUL7(NM_001168370.1):c.1664A>G (p.(Tyr555Cys)) - CUL7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1457G>A r.(?) p.(Cys486Tyr) Unknown - likely benign g.43017813C>T - CUL7(NM_001168370.1):c.1709G>A (p.(Cys570Tyr)) - CUL7_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1542G>T r.(?) p.(Gln514His) Parent #1 - VUS g.43017728C>A g.43049990C>A - - CUL7_000041 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146808129 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1780G>A r.(?) p.(Ala594Thr) Unknown - likely benign g.43017190C>T g.43049452C>T CUL7(NM_001168370.1):c.2032G>A (p.(Ala678Thr)) - CUL7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.1938dup r.(?) p.(Thr647AspfsTer33) Both (homozygous) - pathogenic (recessive) g.43016198dup g.43048460dup 1939insG - CUL7_000075 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam19 PubMed: Huber 2005 see paper - yes Turkey - - - - - 1 Johan den Dunnen
+/. 9 c.2111G>A r.(?) p.(Trp704Ter) Both (homozygous) - pathogenic (recessive) g.43015944C>T g.43048206C>T 2111G>A - CUL7_000074 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam23 PubMed: Huber 2005 see paper - no Austria - - - - - 1 Johan den Dunnen
?/. - c.2132G>T r.(?) p.(Cys711Phe) Unknown - VUS g.43015923C>A - CUL7(NM_001168370.1):c.2384G>T (p.(Cys795Phe)) - CUL7_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2164C>T r.(?) p.(Arg722Ter) Unknown - pathogenic g.43015891G>A g.43048153G>A - - CUL7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2169+8del r.(=) p.(=) Unknown - likely benign g.43015878del - CUL7(NM_014780.5):c.2169+8del - CUL7_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2201G>A r.(?) p.(Arg734His) Unknown - likely benign g.43014814C>T g.43047076C>T CUL7(NM_001168370.1):c.2453G>A (p.R818H) - CUL7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.2212_2234del r.(?) p.(Val738AlafsTer35) Both (homozygous) - pathogenic (recessive) g.43014781_43014803del g.43047043_43047065del 2212_2235delTGAGCAGGGACTATGCCGTGGTG - CUL7_000073 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam11 PubMed: Huber 2005 see paper - yes Syria - - - - - 1 Johan den Dunnen
-?/. - c.2260G>A r.(?) p.(Ala754Thr) Unknown - likely benign g.43014755C>T - CUL7(NM_001168370.1):c.2512G>A (p.(Ala838Thr)) - CUL7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2318G>A r.(?) p.(Arg773Gln) Unknown - VUS g.43014697C>T - CUL7(NM_014780.5):c.2318G>A (p.(Arg773Gln)) - CUL7_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2397+4A>C r.spl? p.? Unknown - VUS g.43014614T>G g.43046876T>G CUL7(NM_001168370.1):c.2649+4A>C - CUL7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2398-6C>G r.(=) p.(=) Unknown - likely benign g.43014345G>C - CUL7(NM_014780.5):c.2398-6C>G - CUL7_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2416G>A r.(?) p.(Glu806Lys) Unknown - likely benign g.43014321C>T - CUL7(NM_014780.5):c.2416G>A (p.(Glu806Lys)) - CUL7_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2438A>G r.(?) p.(Gln813Arg) Unknown - benign g.43014299T>C g.43046561T>C CUL7(NM_001168370.2):c.2534A>G (p.Q845R) - CUL7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2438A>G r.(?) p.(Gln813Arg) Unknown - benign g.43014299T>C g.43046561T>C CUL7(NM_001168370.2):c.2534A>G (p.Q845R) - CUL7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2439A>G r.(?) p.(Gln813=) Unknown - benign g.43014298T>C g.43046560T>C CUL7(NM_001168370.2):c.2535A>G (p.Q845=) - CUL7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2439A>G r.(?) p.(Gln813=) Unknown - benign g.43014298T>C g.43046560T>C CUL7(NM_001168370.2):c.2535A>G (p.Q845=) - CUL7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2492C>T r.(?) p.(Ser831Phe) Unknown - VUS g.43014142G>A - CUL7(NM_014780.5):c.2492C>T (p.(Ser831Phe)) - CUL7_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2555G>A r.(?) p.(Arg852Gln) Unknown - likely benign g.43014079C>T - CUL7(NM_001168370.1):c.2807G>A (p.(Arg936Gln)) - CUL7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 12 c.2592T>G r.(?) p.(Tyr864*) Both (homozygous) - pathogenic g.43014042A>C g.43046304A>C - - CUL7_000001 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - - - DNA PCR - - 3M1 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - M yes Saudi Arabia Arab - - - - 1 Fowzan Alkuraya
?/. - c.2612C>T r.(?) p.(Ala871Val) Unknown - VUS g.43014022G>A g.43046284G>A - - CUL7_000021 - - - rs61732148 Germline yes - - - - DNA SEQ-NG-I Blood gene panel cancer, colon Fam301 - - - - - - - - - - 3 Xiang Jiao
-/. - c.2612C>T r.(?) p.(Ala871Val) Unknown - benign g.43014022G>A g.43046284G>A CUL7(NM_001168370.1):c.2864C>T (p.(Ala955Val)) - CUL7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2614G>A r.(?) p.(Gly872Ser) Unknown - likely benign g.43014020C>T - CUL7(NM_014780.5):c.2614G>A (p.(Gly872Ser)) - CUL7_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2706_2707dup r.(?) p.(Ala903GlyfsTer22) Both (homozygous) - pathogenic (recessive) g.43013783_43013784dup g.43046045_43046046dup 2706insGG - CUL7_000072 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam17 PubMed: Huber 2005 see paper - yes Turkey - - - - - 1 Johan den Dunnen
+/. 13 c.2710C>T r.(?) p.(Arg904Ter) Both (homozygous) - pathogenic (recessive) g.43013780G>A g.43046042G>A 2710C>T - CUL7_000071 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam28 PubMed: Huber 2005 see paper - yes India - - - - - 1 Johan den Dunnen
-?/. - c.2723G>A r.(?) p.(Cys908Tyr) Unknown - likely benign g.43013767C>T g.43046029C>T CUL7(NM_001168370.1):c.2975G>A (p.C992Y) - CUL7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2725G>A r.(?) p.(Gly909Arg) Parent #1 - pathogenic (recessive) g.43013765C>T g.43046027C>T 2725G>A - CUL7_000070 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam9 PubMed: Huber 2005 see paper - no France - - - - - 1 Johan den Dunnen
-?/. - c.2754G>A r.(?) p.(=) Unknown - likely benign g.43013736C>T - CUL7(NM_014780.5):c.2754G>A (p.(Thr918=)) - CUL7_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2765C>A r.(?) p.(Ser922*) Maternal (confirmed) - pathogenic (recessive) g.43013725G>T - - - CUL7_000080 - - - - Germline yes - - - - DNA SEQ-NG Peripheral blood - 3M, MPS2 - - 2-generation family, the proband has two disease phenotypes. M no China Chinese - - - - 1 Xiuli Zhao
?/. - c.2819G>A r.(?) p.(Arg940His) Unknown - VUS g.43013368C>T g.43045630C>T - - CUL7_000020 - - - rs201130952 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, colon Fam110 - - - - - - - - - - 2 Xiang Jiao
?/. - c.2852G>A r.(?) p.(Arg951His) Unknown - VUS g.43013335C>T g.43045597C>T - - CUL7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2863-1G>C r.spl? p.? Both (homozygous) - pathogenic (recessive) g.43013141C>G g.43045403C>G NM_014780.4:c.2863-1G>C - CUL7_000053 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG1592, 10DG0199, 10DG1592, 10DG1593 PubMed: Maddirevula 2018 family, 4 affected (3F, M) F;M yes - Arab - - - - 4 LOVD
+/. - c.2863-1G>C r.spl? p.? Both (homozygous) - pathogenic (recessive) g.43013141C>G g.43045403C>G NM_014780.4:c.2863-1G>C - CUL7_000053 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0787 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - 1 LOVD
?/. - c.2957G>A r.(?) p.(Arg986His) Unknown - VUS g.43013046C>T g.43045308C>T CUL7(NM_001168370.1):c.3209G>A (p.(Arg1070His)) - CUL7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2988G>A r.(?) p.(Trp996*) Both (homozygous) - pathogenic (recessive) g.43013015C>T g.43045277C>T NM_014780.4:c.2988G>A:p.(Trp996*) - CUL7_000052 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG1211, 11DG1210 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - 2 LOVD
+/. - c.3041T>G r.(?) p.(Leu1014Arg) Unknown - pathogenic g.43012621A>C g.43044883A>C CUL7(NM_001168370.2):c.3137T>G (p.L1046R) - CUL7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3041T>G r.(?) p.(Leu1014Arg) Unknown - likely pathogenic g.43012621A>C - CUL7(NM_001168370.2):c.3137T>G (p.L1046R) - CUL7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.3041T>G r.(?) p.(Leu1014Arg) Both (homozygous) - pathogenic (recessive) g.43012621A>C g.43044883A>C 3041T>G - CUL7_000013 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam20 PubMed: Huber 2005 see paper - yes Germany - - - - - 1 Johan den Dunnen
+/. 16 c.3041T>G r.(?) p.(Leu1014Arg) Both (homozygous) - pathogenic (recessive) g.43012621A>C g.43044883A>C 3041T>G - CUL7_000013 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam21 PubMed: Huber 2005 see paper - no Germany - - - - - 1 Johan den Dunnen
+/. 16 c.3041T>G r.(?) p.(Leu1014Arg) Parent #2 - pathogenic (recessive) g.43012621A>C g.43044883A>C 3041T>G - CUL7_000013 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam22 PubMed: Huber 2005 see paper - no Austria - - - - - 1 Johan den Dunnen
-?/. - c.3049G>A r.(?) p.(Ala1017Thr) Unknown - likely benign g.43012613C>T - CUL7(NM_001168370.1):c.3301G>A (p.(Ala1101Thr)) - CUL7_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3053T>C r.(?) p.(Leu1018Pro) Paternal (confirmed) - likely pathogenic (recessive) g.43012609A>G - - - CUL7_000079 - - - - Germline yes - - - - DNA SEQ-NG Peripheral blood - 3M, MPS2 - - 2-generation family, the proband has two disease phenotypes. M no China Chinese - - - - 1 Xiuli Zhao
?/. - c.3097G>A r.(?) p.(Glu1033Lys) Unknown - VUS g.43012565C>T - CUL7(NM_014780.5):c.3097G>A (p.(Glu1033Lys)) - CUL7_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3136del r.(?) p.(Leu1046Trpfs*95) Unknown - pathogenic g.43012528del - CUL7(NM_001168370.1):c.3388delC (p.L1130Wfs*95) - CUL7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3136del r.(?) p.(Leu1046Trpfs*95) Both (homozygous) ACMG pathogenic (recessive) g.43012528del g.43044790del 3184-2A>C - CUL7_000051 ACMG PVS1, PP4, PM3, PM2 PubMed: Silveira 2021, Journal: Silveira 2021 - - Germline - - - - - DNA SEQ - - 3M Pat2 PubMed: Silveira 2021, Journal: Silveira 2021 - F - Brazil - - - - - 1 Cynthia Silveira
+/. 16 c.3136del r.(?) p.(Leu1046TrpfsTer95) Both (homozygous) - pathogenic (recessive) g.43012528del g.43044790del 3136delC - CUL7_000051 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam5 PubMed: Huber 2005 see paper - yes Morocco - - - - - 1 Johan den Dunnen
-?/. - c.3158A>G r.(?) p.(Asn1053Ser) Unknown - likely benign g.43012504T>C - CUL7(NM_001168370.1):c.3410A>G (p.(Asn1137Ser)) - CUL7_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.3167_3168delinsGA r.(?) p.(Ser1056Ter) Parent #1 - pathogenic (recessive) g.43012494_43012495delinsTC g.43044756_43044757delinsTC 3167_3168CC>GA - CUL7_000069 - PubMed: Huber 2005 - - Germline - - - - - DNA SEQ - - 3M Fam8 PubMed: Huber 2005 see paper - no France - - - - - 1 Johan den Dunnen
+?/. - c.3173-1G>C r.spl? p.? Unknown - likely pathogenic g.43011369C>G g.43043631C>G - - CUL7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3254G>A r.(?) p.(Arg1085His) Unknown - VUS g.43011287C>T - - - CUL7_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3273G>A r.(?) p.(Ser1091=) Unknown - likely benign g.43011268C>T g.43043530C>T CUL7(NM_001168370.1):c.3525G>A (p.S1175=) - CUL7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3284G>A r.(?) p.(Arg1095His) Unknown - likely benign g.43011257C>T g.43043519C>T CUL7(NM_001168370.1):c.3536G>A (p.(Arg1179His)) - CUL7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3286C>G r.(?) p.(Leu1096Val) Unknown - VUS g.43011255G>C - - - CUL7_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3331C>T r.(?) p.(Pro1111Ser) Unknown - VUS g.43011210G>A - CUL7(NM_014780.4):c.3331C>T (p.(Arg1111Cys)) - CUL7_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3376G>A r.(?) p.(Asp1126Asn) Unknown - VUS g.43010898C>T - CUL7(NM_014780.5):c.3376G>A (p.(Asp1126Asn)) - CUL7_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3439T>C r.(?) p.(Trp1147Arg) Unknown - VUS g.43010835A>G - - - CUL7_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3463-1G>T r.(?) p.(?) Unknown - pathogenic g.43010723C>A - - - CUL7_000085 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3490C>T r.(?) p.(Arg1164Trp) Parent #1 - VUS g.43010695G>A g.43042957G>A - - CUL7_000040 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201135654 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.