Full data view for gene NOBOX

Information The variants shown are described using the NM_001080413.3 transcript reference sequence.

146 entries on 2 pages. Showing entries 1 - 100.
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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     
-/. 1 c.42T>C r.(?) p.(Gly14=) Parent #1 - benign g.144107279A>G g.144410186A>G - - NOBOX_000076 22/174 cases (heterozygous) PubMed: Bouilly 2011 - rs1208179 Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 22 Johan den Dunnen
-/. 1 c.42T>C r.(?) p.(Gly14=) Parent #1 - benign g.144107279A>G g.144410186A>G - - NOBOX_000076 27/96 heterozygous cases PubMed: Qin 2007 - rs1208179 Germline - - - - - DNA SEQ - - POF - PubMed: Qin 2007 analysis 96 primary ovarian failure cases F - United States - - - - - 27 Johan den Dunnen
-?/. 1 c.66T>C r.(?) p.(Asp22=) Parent #1 - likely benign g.144107255A>G g.144410162A>G - - NOBOX_000075 not in 724 control chromosomes, 3/174 cases PubMed: Bouilly 2011 - - Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 3 Johan den Dunnen
-?/. 1 c.66T>C r.(?) p.(Asp22=) Parent #1 - likely benign g.144107255A>G g.144410162A>G - - NOBOX_000075 not in 278 controls, 1/96 heterozygous cases PubMed: Qin 2007 - - Germline - - - - - DNA SEQ - - POF - PubMed: Qin 2007 analysis 96 primary ovarian failure cases F - United States - - - - - 1 Johan den Dunnen
?/. - c.67G>A r.(?) p.(Gly23Ser) Unknown - VUS g.144107254C>T - - - NOBOX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68G>A r.(?) p.(Gly23Asp) Parent #1 - likely benign g.144107253C>T g.144410160C>T - - NOBOX_000023 - PubMed: Li 2017 - rs563911669 Germline - - - - - DNA SEQ, SEQ-NG - WES POF patient PubMed: Li 2017 - F - China - - - - - 1 Johan den Dunnen
+?/. - c.79C>T r.(?) p.(Gln27*) Unknown - likely pathogenic g.144107242G>A - NOBOX(NM_001080413.3):c.79C>T (p.(Gln27*)) - NOBOX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.92C>T r.(?) p.(Pro31Leu) Unknown - VUS g.144101767G>A g.144404674G>A - - NOBOX_000074 significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
-?/. 10 c.131G>T r.(?) p.(Arg44Leu) Unknown - likely benign g.144101728C>A g.144404635C>A - - NOBOX_000073 no effect on transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs115206969 Germline/De novo (untested) - - - - - DNA SEQ - - POF - PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - France - - - - - 1 Johan den Dunnen
?/. 2 c.131G>T r.(?) p.(Arg44Leu) Unknown - VUS g.144101728C>A g.144404635C>A - - NOBOX_000073 overrepresented in POI cohort, no significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 14/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 13 Johan den Dunnen
?/. 2 c.131G>T r.(?) p.(Arg44Leu) Parent #1 - VUS g.144101728C>A g.144404635C>A - - NOBOX_000073 overrepresented in POI cohort, no significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 14/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
-?/. - c.131G>T r.(?) p.(Arg44Leu) Parent #1 - likely benign g.144101728C>A g.144404635C>A - - NOBOX_000073 - PubMed: Eskenazi 2021 - rs115206969 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat8 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
-?/. - c.131G>T r.(?) p.(Arg44Leu) Parent #1 - likely benign g.144101728C>A g.144404635C>A - - NOBOX_000073 - PubMed: Eskenazi 2021 - rs115206969 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat10 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
-?/. - c.131G>T r.(?) p.(Arg44Leu) Parent #1 - likely benign g.144101728C>A g.144404635C>A - - NOBOX_000073 - PubMed: Eskenazi 2021 - rs115206969 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat12 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
-?/. 2 c.138C>A r.(?) p.(Tyr46Ter) Unknown - likely benign g.144101721G>T g.144404628G>T - - NOBOX_000072 not overrepresented in POI cohort PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
-?/. 2 c.166_168del r.(?) p.(Phe56del) Unknown - likely benign g.144101695_144101697del g.144404602_144404604del - - NOBOX_000071 - PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. - c.222T>A r.(?) p.(Asp74Glu) Unknown - VUS g.144099032A>T - NOBOX(NM_001080413.3):c.222T>A (p.(Asp74Glu)) - NOBOX_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259C>A r.(259c>a) p.(Pro87Thr) Unknown - VUS g.144098995G>T g.144401902G>T - - NOBOX_000013 - - - - Germline ? 0,0000289 - - - DNA SEQ-NG-I - - POF5 patient - - F no Belgium Italy - - - - 1 Asma Sassi
-/. - c.262C>T r.(?) p.(Leu88=) Unknown - benign g.144098992G>A g.144401899G>A NOBOX(NM_001080413.3):c.262C>T (p.L88=) - NOBOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.262C>T r.(?) p.(Leu88=) Both (homozygous) - benign g.144098992G>A g.144401899G>A - - NOBOX_000005 55/174 cases (homozygous) PubMed: Bouilly 2011 - rs727714 Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 55 Johan den Dunnen
-/. 3 c.262C>T r.(?) p.(Leu88=) Both (homozygous) - benign g.144098992G>A g.144401899G>A - - NOBOX_000005 41/96 homozygous cases PubMed: Qin 2007 - rs727714 Germline - - - - - DNA SEQ - - POF - PubMed: Qin 2007 analysis 96 primary ovarian failure cases F - United States - - - - - 41 Johan den Dunnen
-?/. 3 c.265G>T r.(?) p.(Val89Leu) Unknown - likely benign g.144098989C>A g.144401896C>A - - NOBOX_000070 - PubMed: Jordan 2024 - - Germline - 3/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 3 Johan den Dunnen
+?/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - likely pathogenic (dominant) g.144098983C>A g.144401890C>A - - NOBOX_000069 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.01) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat1 PubMed: Bouilly 2011 patient F - Guinea - - - - - 1 Johan den Dunnen
+?/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - likely pathogenic (dominant) g.144098983C>A g.144401890C>A - - NOBOX_000069 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.01) PubMed: Bouilly 2011 - - De novo - - - - - DNA SEQ - - POF Pat2 PubMed: Bouilly 2011 patient F - Senegal - - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat1 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - Senegal - - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat2 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - Benin - - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat3 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - Cote D'Ivoire (Ivory Coast) - - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat4 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - Mali - - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat5 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - France white - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat6 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - Haiti - - - - - 1 Johan den Dunnen
+/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - pathogenic g.144098983C>A g.144401890C>A - - NOBOX_000069 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs77587352 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat7 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - - - - - - - 1 Johan den Dunnen
?/. 3 c.271G>T r.(?) p.(Gly91Trp) Unknown - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 32/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 29 Johan den Dunnen
?/. 3 c.271G>T r.(?) p.(Gly91Trp) Parent #1 - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 32/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. 3 c.271G>T r.(?) p.(Gly91Trp) Parent #1 - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 32/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. 3 c.271G>T r.(?) p.(Gly91Trp) Both (homozygous) - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 32/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Gly91Trp) Both (homozygous) - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 - PubMed: Eskenazi 2021 - rs77587352 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat14 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Gly91Trp) Unknown - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 - PubMed: Eskenazi 2021 - rs77587352 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Gly91Trp) Unknown - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 - PubMed: Eskenazi 2021 - rs77587352 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Gly91Trp) Unknown - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 - PubMed: Eskenazi 2021 - rs77587352 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Gly91Trp) Unknown - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 - PubMed: Eskenazi 2021 - rs77587352 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.271G>T r.(?) p.(Gly91Trp) Unknown - VUS g.144098983C>A g.144401890C>A - - NOBOX_000069 - PubMed: Eskenazi 2021 - rs77587352 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.280_292+1del r.spl? p.? Unknown - VUS g.144098963_144098976del g.144401870_144401883del NOBOX(NM_001080413.3):c.280_292+1delGAACTCACAAGGGG - NOBOX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.292+39C>T r.(?) p.(=) Both (homozygous) - benign g.144098923G>A g.144401830G>A - - NOBOX_000068 3/174 cases (homozygous) PubMed: Bouilly 2011 - - Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 3 Johan den Dunnen
-/. 3i c.292+65A>G r.(?) p.(=) Both (homozygous) - benign g.144098897A>C g.144401804A>C - - NOBOX_000067 58/174 cases (homozygous) PubMed: Bouilly 2011 - rs727713 Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 58 Johan den Dunnen
-?/. 3i c.293-71G>A r.(?) p.(=) Parent #1 - likely benign g.144098761C>T g.144401668C>T - - NOBOX_000066 not in 724 control chromosomes, 2/178 cases PubMed: Bouilly 2011 - - Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 2 Johan den Dunnen
-?/. 3i c.293-23C>T r.(?) p.(=) Parent #1 - likely benign g.144098713G>A g.144401620G>A - - NOBOX_000065 1 homozygote in 362 controls, no heterozygous controls, 1/178 cases PubMed: Bouilly 2011 - - Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 1 Johan den Dunnen
-?/. - c.331G>A r.(?) p.(Gly111Arg) Unknown - likely benign g.144098652C>T g.144401559C>T NOBOX(NM_001080413.3):c.331G>A (p.G111R) - NOBOX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.331G>A r.(?) p.(Gly111Arg) Unknown - pathogenic g.144098652C>T g.144401559C>T - - NOBOX_000008 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat8 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - France white - - - - 1 Johan den Dunnen
+?/. 4 c.349C>T r.(?) p.(Arg117Trp) Parent #1 - likely pathogenic (dominant) g.144098634G>A g.144401541G>A - - NOBOX_000064 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline yes - - - - DNA SEQ - - POF Pat3 PubMed: Bouilly 2011 family, 2 affected sister F - Congo - - - - - 2 Johan den Dunnen
+?/. 4 c.349C>T r.(?) p.(Arg117Trp) Parent #1 - likely pathogenic (dominant) g.144098634G>A g.144401541G>A - - NOBOX_000064 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline yes - - - - DNA SEQ - - POF Pat4 PubMed: Bouilly 2011 sister F - Congo - - - - - 1 Johan den Dunnen
+?/. 4 c.349C>T r.(?) p.(Arg117Trp) Unknown - likely pathogenic (dominant) g.144098634G>A g.144401541G>A - - NOBOX_000064 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat5 PubMed: Bouilly 2011 patient F - Mali - - - - - 1 Johan den Dunnen
+?/. 4 c.349C>T r.(?) p.(Arg117Trp) Unknown - likely pathogenic (dominant) g.144098634G>A g.144401541G>A - - NOBOX_000064 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat6 PubMed: Bouilly 2011 patient F - - French Caribbean - - - - 1 Johan den Dunnen
+/. 4 c.349C>T r.(?) p.(Arg117Trp) Unknown - pathogenic g.144098634G>A g.144401541G>A - - NOBOX_000064 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs7800847 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat9 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - France white - - - - 1 Johan den Dunnen
+/. 4 c.349C>T r.(?) p.(Arg117Trp) Unknown - pathogenic g.144098634G>A g.144401541G>A - - NOBOX_000064 total loss transactivation KIT-L/GDF9 reporter PubMed: Bouilly 2015 - rs7800847 Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat10 PubMed: Bouilly 2015 analysis 213 unrelated primary ovarian insufficiency cases F - France white - - - - 1 Johan den Dunnen
-?/. 4 c.349C>T r.(?) p.(Arg117Trp) Unknown - likely benign g.144098634G>A g.144401541G>A - - NOBOX_000064 no significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 36/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 34 Johan den Dunnen
-?/. 4 c.349C>T r.(?) p.(Arg117Trp) Both (homozygous) - likely benign g.144098634G>A g.144401541G>A - - NOBOX_000064 no significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 36/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
-?/. 4 c.349C>T r.(?) p.(Arg117Trp) Unknown - likely benign g.144098634G>A g.144401541G>A - - NOBOX_000064 no significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 36/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Parent #1 - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat5 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Parent #1 - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat9 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Unknown - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Unknown - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Unknown - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Unknown - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.349C>T r.(?) p.(Arg117Trp) Unknown - VUS g.144098634G>A g.144401541G>A - - NOBOX_000064 - PubMed: Eskenazi 2021 - rs7800847 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF Pat3 PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
-?/. - c.350G>A r.(?) p.(Arg117Gln) Unknown - likely benign g.144098633C>T g.144401540C>T - - NOBOX_000024 - PubMed: Li 2017 - rs528754192 Germline - - - - - DNA SEQ, SEQ-NG - WES POF patient PubMed: Li 2017 - F - China - - - - - 1 Johan den Dunnen
-?/. 4 c.362C>T r.(?) p.(Pro121Leu) Unknown - likely benign g.144098621G>A g.144401528G>A - - NOBOX_000063 - PubMed: Jordan 2024 - - Germline - 4/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 4 Johan den Dunnen
?/. 4 c.454G>A r.(?) p.(Gly152Arg) Unknown - VUS g.144098529C>T g.144401436C>T - - NOBOX_000062 overrepresented in POI cohort, no significant overrepresentation African POI cohort, significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 12/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 12 Johan den Dunnen
?/. - c.454G>A r.(?) p.(Gly152Arg) Unknown - VUS g.144098529C>T g.144401436C>T - - NOBOX_000062 - PubMed: Eskenazi 2021 - rs201806397 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.454G>A r.(?) p.(Gly152Arg) Unknown - VUS g.144098529C>T g.144401436C>T - - NOBOX_000062 - PubMed: Eskenazi 2021 - rs201806397 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. - c.454G>A r.(?) p.(Gly152Arg) Unknown - VUS g.144098529C>T g.144401436C>T - - NOBOX_000062 - PubMed: Eskenazi 2021 - rs201806397 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
-?/. 4 c.480G>A r.(?) p.(Pro160=) Both (homozygous) - likely benign g.144098503C>T g.144401410C>T - - NOBOX_000061 not in 724 control chromosomes, 1/178 cases (homozygous) PubMed: Bouilly 2011 - - Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 1 Johan den Dunnen
?/. 4 c.487C>G r.(?) p.(Arg163Gly) Unknown - VUS g.144098496G>C g.144401403G>C - - NOBOX_000060 significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 3/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 3 Johan den Dunnen
?/. 4 c.487C>T r.(?) p.(Arg163Cys) Unknown - VUS g.144098496G>A g.144401403G>A - - NOBOX_000059 significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 2/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. 4 c.487C>T r.(?) p.(Arg163Cys) Unknown - VUS g.144098496G>A g.144401403G>A - - NOBOX_000059 significant overrepresentation African POI cohort PubMed: Jordan 2024 - - Germline - 2/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. 4 c.547G>T r.(?) p.(Glu183Ter) Unknown - VUS g.144098436C>A g.144401343C>A - - NOBOX_000058 significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 2/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 2 Johan den Dunnen
+/. - c.569del r.(?) p.(Gly190GlufsTer3) Both (homozygous) - pathogenic g.144098416del g.144401323del 567delG - NOBOX_000022 - PubMed: Li 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES POF patient PubMed: Li 2017 - F - China - - - - - 1 Johan den Dunnen
?/. 4 c.628A>G r.(?) p.(Asn210Asp) Unknown - VUS g.144098355T>C g.144401262T>C - - NOBOX_000057 - PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
+/. 4 c.822del r.(?) p.(Thr275Hisfs*13) Both (homozygous) - pathogenic g.144098161del g.144401068del NM_001080413.2:c.567delG - NOBOX_000001 - PubMed: Li 2017 - - Germline ? - - - - DNA SEQ-NG-I Blood - POF - PubMed: Li 2017 - F ? China Han Chinese - - - - 1 Lin Li
+/. 4 c.822del r.(?) p.Thr275Hisfs*13 Unknown - NA g.144098161del g.144401068del - - NOBOX_000001 cDNA expression cloning in 293FT cells showed normal protein expression (truncated), reduced (0.2) GDF9 promoter activation and reduced gene expression activation of CPSF4L, MYOT, RFPL4A, UNC13C, GDF9, NLRP14 and RSPO2 PubMed: Li 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.826C>T r.(?) p.(Arg276*) Paternal (confirmed) ACMG pathogenic (recessive) g.144098157G>A g.144401064G>A - - NOBOX_000012 ACMG PVS1, PM2, PP3 PubMed: Sassi 2021 - - Germline yes - - - - DNA SEQ-NG blood WES POF FamPatIV1 PubMed: Sassi 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Belgium white - - - - 2 Asma Sassi
+/. - c.826C>T r.(?) p.(Arg276*) Paternal (confirmed) ACMG pathogenic (recessive) g.144098157G>A g.144401064G>A - - NOBOX_000012 ACMG PVS1, PM2, PP3 PubMed: Sassi 2021 - - Germline yes - - - - DNA SEQ-NG blood WES POF FamPatIV2 PubMed: Sassi 2021 sister F no Belgium white - - - - 1 Asma Sassi
+?/. 5 c.907C>T r.(?) p.(Arg303Ter) Unknown - likely pathogenic (dominant) g.144097343G>A g.144400250G>A - - NOBOX_000056 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat7 PubMed: Bouilly 2011 patient F - - Congo;France - - - - 1 Johan den Dunnen
?/. - c.944G>A r.(?) p.(Arg315His) Unknown - VUS g.144097306C>T - NOBOX(NM_001080413.3):c.944G>A (p.(Arg315His)) - NOBOX_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.961del r.(?) p.(Ala321ProfsTer27) Unknown - pathogenic g.144097293del g.144400200del - - NOBOX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.963C>T r.(?) p.(Ala321=) Parent #1 - likely benign g.144097287G>A g.144400194G>A - - NOBOX_000055 not in 724 control chromosomes, 1/178 cases PubMed: Bouilly 2011 - - Germline - - - - - DNA SEQ - - POF - PubMed: Bouilly 2011 analysis 178 primary ovarian insufficiency cases - - - - - - - - 1 Johan den Dunnen
+?/. 5 c.1025G>C r.(?) p.(Ser342Thr) Unknown - likely pathogenic (dominant) g.144097225C>G g.144400132C>G - - NOBOX_000054 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat8 PubMed: Bouilly 2011 patient F - France white - - - - 1 Johan den Dunnen
+?/. 5 c.1025G>C r.(?) p.(Ser342Thr) Unknown - likely pathogenic (dominant) g.144097225C>G g.144400132C>G - - NOBOX_000054 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat9 PubMed: Bouilly 2011 patient F - France white - - - - 1 Johan den Dunnen
+?/. 5 c.1025G>C r.(?) p.(Ser342Thr) Unknown - likely pathogenic (dominant) g.144097225C>G g.144400132C>G - - NOBOX_000054 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat10 PubMed: Bouilly 2011 patient F - France white - - - - 1 Johan den Dunnen
+?/. 5 c.1025G>C r.(?) p.(Ser342Thr) Unknown - likely pathogenic (dominant) g.144097225C>G g.144400132C>G - - NOBOX_000054 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat11 PubMed: Bouilly 2011 patient F - France white - - - - 1 Johan den Dunnen
?/. 5 c.1031G>A r.(?) p.(Arg344His) Unknown - VUS g.144097219C>T g.144400126C>T - - NOBOX_000053 - PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. 5 c.1037C>T r.(?) p.(Ala346Val) Unknown - VUS g.144097213G>A g.144400120G>A - - NOBOX_000052 significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
+?/. 6 c.1048G>T r.(?) p.(Val350Leu) Unknown - likely pathogenic (dominant) g.144096956C>A g.144399863C>A - - NOBOX_000051 not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05) PubMed: Bouilly 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - POF Pat12 PubMed: Bouilly 2011 patient F - France white - - - - 1 Johan den Dunnen
?/. 6 c.1063C>T r.(?) p.(Arg355Cys) Unknown - VUS g.144096941G>A g.144399848G>A - - NOBOX_000050 significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
+/. - c.1064G>A r.(?) p.(Arg355His) Parent #1 - pathogenic g.144096940C>T g.144399847C>T - - NOBOX_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201947677 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
+?/. 6 c.1064G>A r.(?) p.(Arg355His) Parent #1 - likely pathogenic (dominant) g.144096940C>T g.144399847C>T - - NOBOX_000009 not in 278 controls, 1/96 heterozygous cases; electrophoretic mobility shift assay (EMSA) confirms variant disrupts binding to NOBOX DNA-binding element PubMed: Qin 2007 - - Germline - - - - - DNA SEQ - - POF - PubMed: Qin 2007 analysis 96 primary ovarian failure cases F - United States - - - - - 1 Johan den Dunnen
?/. 6 c.1064G>C r.(?) p.(Arg355Pro) Unknown - VUS g.144096940C>G g.144399847C>G - - NOBOX_000049 - PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
?/. - c.1064G>C r.(?) p.(Arg355Pro) Unknown - VUS g.144096940C>G g.144399847C>G - - NOBOX_000049 - PubMed: Eskenazi 2021 - rs201947677 Germline - - - - - DNA SEQ, SEQ-NG - 18-gene panel POF - PubMed: Eskenazi 2021 analysis 269 cases POI F - France - - - - - 1 Johan den Dunnen
?/. 6 c.1075T>C r.(?) p.(Trp359Arg) Unknown - VUS g.144096929A>G g.144399836A>G - - NOBOX_000048 significant overrepresentation European POI cohort PubMed: Jordan 2024 - - Germline - 1/810 cases POF - - - DNA SEQ - 7-gene panel POF - PubMed: Jordan 2024 analysis 810 cases POF F - - - - - - - 1 Johan den Dunnen
+?/. - c.1078C>T r.(?) p.(Arg360Ter) Both (homozygous) - likely pathogenic g.144096926G>A g.144399833G>A - - NOBOX_000021 - PubMed: Jolly 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES POF BAB6985 PubMed: Jolly 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.1079G>A r.(?) p.(Arg360Gln) Unknown - VUS g.144096925C>T - NOBOX(NM_001080413.3):c.1079G>A (p.R360Q) - NOBOX_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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