Full data view for gene FUZ

Information The variants shown are described using the NM_025129.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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     

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Owner     
+/. 1 c.98_111+9del r.? p.? Both (homozygous) - pathogenic (recessive) g.50316244_50316266del - NM_025129.4:c.98_111+9del - FUZ_000008 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R11-569 PubMed: Zhang 2018 - - - - African American - - - - 1 LOVD
-?/. - c.112-9C>G r.(=) p.(=) Unknown - likely benign g.50316002G>C - FUZ(NM_025129.5):c.112-9C>G - AP2A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.115C>T r.(?) p.(Pro39Ser) Unknown - likely pathogenic (dominant) g.50315990G>A g.49812733G>A - - FUZ_000022 not in 130 controls PubMed: Seo 2011 - - De novo - 1/234 NTD cases - - - DNA SEQ - - NTD Pat1 PubMed: Seo 2011 2-generation family, 1 affected, unaffected non-carrier parents - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.131G>A r.(?) p.(Gly44Asp) Unknown - VUS g.50315974C>T g.49812717C>T NM_025129.5:c.131C>T - FUZ_000009 - PubMed: Mansoorshahi 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV166 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
?/. - c.158G>A r.(?) p.(Gly53Glu) Unknown - VUS g.50315947C>T - FUZ(NM_025129.4):c.158G>A (p.(Gly53Glu)) - AP2A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.319-4C>G r.spl? p.? Unknown - likely benign g.50314960G>C - FUZ(NM_025129.5):c.319-4C>G - AP2A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.388-14T>G r.(=) p.(=) Unknown - benign g.50314738A>C g.49811481A>C FUZ(NM_025129.4):c.388-14T>G - FUZ_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>T r.(?) p.(=) Unknown - likely benign g.50314707G>A - FUZ(NM_025129.5):c.405C>T (p.(Ile135=)) - AP2A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.419G>A r.(?) p.(Gly140Glu) Unknown - likely benign g.50314693C>T g.49811436C>T - - FUZ_000021 not in 130 controls PubMed: Seo 2011 - - Germline - 1/234 NTD cases - - - DNA SEQ - - NTD Pat2 PubMed: Seo 2011 - - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.424T>A r.(?) p.(Ser142Thr) Unknown - likely benign g.50314688A>T g.49811431A>T - - FUZ_000020 not in 130 controls PubMed: Seo 2011 - - Germline - 1/234 NTD cases - - - DNA SEQ - - NTD Pat3 PubMed: Seo 2011 - - - Italy - - - - - 2 Johan den Dunnen
-/. - c.492+161del r.(=) p.(=) Unknown - benign g.50314470del g.49811213del FUZ(NM_025129.5):c.492+161delT - FUZ_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.524G>A r.(?) p.(Gly175Asp) Parent #1 - likely benign g.50312801C>T g.49809544C>T - - FUZ_000019 found in 3 controls PubMed: Seo 2011 - rs35002951 Germline - 11/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 11 Johan den Dunnen
-?/. - c.546G>A r.(?) p.(Val182=) Parent #1 - likely benign g.50312779C>T g.49809522C>T - - FUZ_000018 not in 130 controls PubMed: Seo 2011 - - Germline - 1/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 1 Johan den Dunnen
+?/. 6 c.601G>A r.(?) p.(Glu201Lys) Both (homozygous) ACMG VUS (!) g.50312724C>T g.49809467C>T - - FUZ_000010 ACMG: VUS (BP4, PM2_supporting, PM3); observed in homozygous state and in compound heterozygous state with a VUS in individuals affected with Orofaciodigital syndrome PMID: 38702430, 39706863 - - Germline ? - - - - DNA SEQ-NG-I Blood - NTD 349716 - - F likely India - - - - - 1 Andreas Laner
+/. - c.601G>A r.(?) p.(Glu201Lys) Both (homozygous) - pathogenic (recessive) g.50312724C>T g.49809467C>T - - FUZ_000010 - PubMed: Singh 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat1 PubMed: Singh 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - 2 Johan den Dunnen
+/. - c.601G>A r.(?) p.(Glu201Lys) Paternal (confirmed) - pathogenic (recessive) g.50312724C>T g.49809467C>T - - FUZ_000010 - PubMed: Singh 2024, PubMed: Jacob 2025 SCV004036154.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat2;? PubMed: Singh 2024, PubMed: Jacob 2025 2-generation family, affected fetus, unaffected heterozygous carrier parents - no India - <00y00m00d - - - 1 Johan den Dunnen
+/. - c.625_636del r.(?) p.(Val209_Leu212del) Maternal (confirmed) - pathogenic (recessive) g.50312692_50312703del g.49809435_49809446del - - FUZ_000011 - PubMed: Singh 2024, PubMed: Jacob 2025 SCV004036155.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat2;? PubMed: Singh 2024, PubMed: Jacob 2025 2-generation family, affected fetus, unaffected heterozygous carrier parents - no India - <00y00m00d - - - 1 Johan den Dunnen
-?/. - c.666G>A r.(?) p.(Val222=) Unknown - likely benign g.50312659C>T g.49809402C>T FUZ(NM_025129.4):c.666G>A (p.V222=) - FUZ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.672G>A r.(?) p.(Leu224=) Unknown - benign g.50312653C>T g.49809396C>T FUZ(NM_025129.4):c.672G>A (p.L224=) - FUZ_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819C>T r.(?) p.(Asp273=) Parent #1 - likely benign g.50312048G>A g.49808791G>A - - FUZ_000017 found in 11 controls PubMed: Seo 2011 - rs11557714 Germline - 23/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 23 Johan den Dunnen
-?/. - c.851G>C r.(?) p.(Arg284Pro) Unknown - likely benign g.50312016C>G g.49808759C>G FUZ(NM_001171937.1):c.743G>C (p.(Arg248Pro)) - FUZ_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851G>C r.(?) p.(Arg284Pro) Both (homozygous) ACMG VUS g.50312016C>G g.49808759C>G - - FUZ_000005 - Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis - - Germline yes - - - - DNA SEQ-NG whole blood - craniosynost. - Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis - F yes (Turkey) - - - - - 2 Jacqueline Goos
?/. 8 c.851G>C r.851G>C p.Arg284Pro Unknown - VUS g.50312016C>G g.49808759C>G - - FUZ_000005 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+?/. 8 c.851G>T r.(?) p.(Arg284Leu) Unknown - likely pathogenic (recessive) g.50312016C>A - NM_025129.4:c.851G>T - FUZ_000007 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R98-523A PubMed: Zhang 2018 Unsolved case: biallelic causative mutations not identify - - - white - - - - 1 LOVD
-?/. - c.870C>T r.(?) p.(Phe290=) Parent #1 - likely benign g.50311997G>A g.49808740G>A - - FUZ_000016 not in 130 controls PubMed: Seo 2011 - - Germline - 1/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.945C>T r.(?) p.(Pro315=) Parent #1 - likely benign g.50311844G>A g.49808587G>A - - FUZ_000015 not in 130 controls PubMed: Seo 2011 - - Germline - 1/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.1002T>C r.(?) p.(Tyr334=) Parent #1 - likely benign g.50311702A>G g.49808445A>G - - FUZ_000014 found in 1 control PubMed: Seo 2011 - - Germline - 3/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 3 Johan den Dunnen
+?/. - c.1060G>T r.(?) p.(Asp354Tyr) Paternal (confirmed) - likely pathogenic g.50310605C>A g.49807348C>A - - FUZ_000013 not in 130 controls PubMed: Seo 2011 - - Germline - 1/234 NTD cases - - - DNA SEQ - - NTD Pat4 PubMed: Seo 2011 2-generation family, 1 affected, unaffected carrier father F yes Italy Sicily - - - - 1 Johan den Dunnen
-?/. - c.1199C>T r.(?) p.(Thr400Ile) Parent #1 - likely benign g.50310466G>A g.49807209G>A - - FUZ_000012 found in 1 control PubMed: Seo 2011 - rs12610577 Germline - 1/234 NTD cases - - - DNA SEQ - - NTD - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - 1 Johan den Dunnen
?/. - c.1211G>A r.(?) p.(Arg404Gln) Parent #1 - VUS g.50310454C>T g.49807197C>T - - FUZ_000004 risk factor; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137955120 Germline - 2/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - VUS g.50310454C>T - FUZ(NM_025129.4):c.1211G>A (p.(Arg404Gln)) - FUZ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - likely pathogenic g.50310454C>T g.49807197C>T - - FUZ_000004 not in 130 controls PubMed: Seo 2011 - - Germline/De novo (untested) - 1/234 NTD cases - - - DNA SEQ - - NTD Pat5 PubMed: Seo 2011 - M - Italy white - - - - 1 Johan den Dunnen
-?/. - c.*1613C>A r.(=) p.(=) Unknown - likely benign g.50308795G>T g.49805538G>T AP2A1(NM_014203.2):c.2496G>T (p.R832=) - AP2A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4160A>C r.(=) p.(=) Unknown - VUS g.50306248T>G - AP2A1(NM_014203.2):c.2223T>G (p.D741E) - AP2A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4590G>A r.(=) p.(=) Unknown - VUS g.50305818C>T g.49802561C>T AP2A1(NM_014203.2):c.2142C>T (p.(=)) - AP2A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8210G>A r.(=) p.(=) Unknown - likely benign g.50302198C>T g.49798941C>T AP2A1(NM_014203.2):c.954C>T (p.I318=) - AP2A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24557C>T r.(=) p.(=) Unknown - VUS g.50285851G>A g.49782594G>A AP2A1(NM_014203.2):c.343G>A (p.(Ala115Thr)) - AP2A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24599G>A r.(=) p.(=) Unknown - likely benign g.50285809C>T - AP2A1(NM_130787.3):c.301C>T (p.(Leu101=)) - AP2A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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