Full data view for gene ZNRF3

Information The variants shown are described using the NM_001206998.1 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.190del r.(?) p.(Val64CysfsTer58) Unknown - likely pathogenic (dominant) g.29279944del g.28883956del - - ZNRF3_000004 - PubMed: Boonsawat 2024 SCV005050162 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.301-10827_426+11057del r.(?) p.(Met101_Lys142del) Unknown - likely pathogenic (dominant) g.29372237_29394246del g.28976249_28998258del - - ZNRF3_000005 22 Kb deletion incl. ex2 PubMed: Boonsawat 2024 SCV005050163 - Unknown - - - - - DNA SEQ, SEQ-NG - WES NDD FamPat10 PubMed: Boonsawat 2024 2-generation family, affected father/son M - - - - - - - 2 Johan den Dunnen
+?/. - c.301-10827_426+11057del r.(?) p.(Met101_Lys142del) Paternal (confirmed) - likely pathogenic (dominant) g.29372237_29394246del g.28976249_28998258del - - ZNRF3_000005 22 Kb deletion incl. ex2 PubMed: Boonsawat 2024 SCV005050163 - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPat11 PubMed: Boonsawat 2024 son M - - - - - - - 1 Johan den Dunnen
+?/. - c.311T>C r.(?) p.(Leu104Pro) Unknown - likely pathogenic (dominant) g.29383074T>C g.28987086T>C - - ZNRF3_000006 - PubMed: Boonsawat 2024 SCV005050154 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.536C>T r.(?) p.(Pro179Leu) Unknown - likely pathogenic (dominant) g.29439321C>T g.29043333C>T - - ZNRF3_000007 - PubMed: Boonsawat 2024 SCV005050155 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.878G>A r.(?) p.(Cys293Tyr) Unknown - likely pathogenic (dominant) g.29442837G>A g.29046849G>A - - ZNRF3_000008 - PubMed: Boonsawat 2024 SCV005050156 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.887G>A r.(?) p.(Cys296Tyr) Unknown - likely pathogenic (dominant) g.29442846G>A g.29046858G>A - - ZNRF3_000009 - PubMed: Boonsawat 2024 SCV005050157 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.920G>A r.(?) p.(Arg307Gln) Unknown - likely pathogenic (dominant) g.29444384G>A g.29048396G>A - - ZNRF3_000010 - PubMed: Boonsawat 2024 SCV005050158 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.932G>A r.(?) p.(Cys311Tyr) Unknown - likely pathogenic g.29444396G>A - - - ZNRF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.956G>A r.(?) p.(Cys319Tyr) Unknown - likely pathogenic (dominant) g.29444420G>A g.29048432G>A - - ZNRF3_000011 - PubMed: Boonsawat 2024 SCV005050159 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.965C>G r.(?) p.(Pro322Arg) Unknown - likely pathogenic (dominant) g.29444429C>G g.29048441C>G - - ZNRF3_000012 - PubMed: Boonsawat 2024 SCV005050160 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1000C>T r.(?) p.(Arg334Trp) Unknown - likely pathogenic (dominant) g.29444464C>T g.29048476C>T - - ZNRF3_000013 - PubMed: Boonsawat 2024 SCV005050161 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1031del r.(?) p.(Pro344GlnfsTer19) Unknown - likely pathogenic (dominant) g.29445200del g.29049212del - - ZNRF3_000014 - PubMed: Boonsawat 2024 SCV005050164 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Boonsawat 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1053C>T r.(?) p.(Thr351=) Unknown - likely benign g.29445222C>T - ZNRF3(NM_001206998.1):c.1053C>T (p.T351=) - ZNRF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1446G>C r.(?) p.(Gln482His) Unknown - VUS g.29445615G>C g.29049627G>C ZNRF3(NM_001206998.1):c.1446G>C (p.Q482H) - ZNRF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2258G>A r.(?) p.(Gly753Glu) Unknown - VUS g.29446427G>A - - - ZNRF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2526G>A r.(?) p.(=) Unknown - VUS g.29446695G>A - ZNRF3(NM_001206998.2):c.2526G>A (p.(Leu842=)) - ZNRF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5146A>G r.(=) p.(=) Unknown - VUS g.29454756A>G g.29058768A>G C22orf31(NM_015370.1):c.847T>C (p.W283R) - C22orf31_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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