Full data view for gene FZD5

Information The variants shown are described using the NM_003468.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-196689_*168905dup r.? p.? Paternal (confirmed) - pathogenic g.208462801_208830422dup g.207598077_207965698dup - - CCNYL1_000001 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.513_521del r.(?) p.(Pro172_Gly174del) Unknown - VUS g.208632948_208632956del - FZD5(NM_003468.4):c.513_521del (p.(Pro172_Gly174del)) - FZD5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.820del r.(?) p.(Leu274CysfsTer73) Unknown ACMG likely pathogenic (dominant) g.208632645del g.207767921del - - FZD5_000005 ACMG PVS1, PM2; father not available PubMed: Aubert-Mucca 2021 SCV000998820 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OCCO ADN120143 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected, unaffected non-carrier mother F no France Algeria;Morocco - - - - 1 Johan den Dunnen
?/. - c.973_975del r.(?) p.(Phe325del) Unknown - VUS g.208632493_208632495del - FZD5(NM_003468.4):c.973_975delTTC (p.F325del) - FZD5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1044G>A r.(?) p.(Trp348*) Unknown - likely pathogenic g.208632420C>T - FZD5(NM_003468.4):c.1044G>A (p.W348*) - FZD5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1081_1082insGAA r.(?) p.(His361delinsArgAsn) Unknown ACMG likely pathogenic (dominant) g.208632382_208632383insTTC g.207767658_207767659insTTC - - FZD5_000004 ACMG PM1, PM2, PM4, PP3 PubMed: Aubert-Mucca 2021 SCV000998821 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OCCO ADN140259 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected, unaffected parents/sibs F no France Algeria - - - - 1 Johan den Dunnen
+?/. - c.1181_1246del r.(?) p.(Asn394_Gly415del) Maternal (confirmed) ACMG likely pathogenic (dominant) g.208632225_208632290del g.207767501_207767566del - - FZD5_000003 ACMG PM1, PM2, PM4, PP3 PubMed: Aubert-Mucca 2021 SCV000998822 - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OCCO SG170145/Pat3 PubMed: Aubert-Mucca 2021 2-generation family, affected mother/daughter F - France - - - - - 2 Johan den Dunnen
+?/. - c.1181_1246del r.(?) p.(Asn394_Gly415del) Unknown ACMG likely pathogenic (dominant) g.208632225_208632290del g.207767501_207767566del - - FZD5_000003 ACMG PM1, PM2, PM4, PP3 PubMed: Aubert-Mucca 2021 SCV000998822 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OCCO SG170145/Pat4 PubMed: Aubert-Mucca 2021 mother F - France - - - - - 1 Johan den Dunnen
?/. - c.1270G>C r.(?) p.(Val424Leu) Unknown - VUS g.208632194C>G - FZD5(NM_003468.3):c.1270G>C (p.(Val424Leu)), FZD5(NM_003468.4):c.1270G>C (p.V424L) - FZD5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270G>C r.(?) p.(Val424Leu) Unknown - VUS g.208632194C>G - FZD5(NM_003468.3):c.1270G>C (p.(Val424Leu)), FZD5(NM_003468.4):c.1270G>C (p.V424L) - FZD5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388T>C r.(?) p.(Ile463Thr) Unknown - VUS g.208632076A>G - FZD5(NM_003468.4):c.1388T>C (p.(Ile463Thr)) - FZD5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1513C>G r.(?) p.(Leu505Val) Unknown - likely benign g.208631951G>C - FZD5(NM_003468.3):c.1513C>G (p.(Leu505Val)) - FZD5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1630G>A r.(?) p.(Gly544Ser) Unknown - VUS g.208631834C>T - FZD5(NM_003468.3):c.1630G>A (p.(Gly544Ser)) - FZD5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1706C>T r.(?) p.(Pro569Leu) Unknown - likely benign g.208631758G>A - FZD5(NM_003468.3):c.1706C>T (p.(Pro569Leu)) - FZD5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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