All variants in the F12 gene

Information The variants shown are described using the NM_000505.3 transcript reference sequence.

101 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.-62C>T r.(?) p.(=) - VUS g.176836590G>A g.177409589G>A F12(NM_000505.4):c.-62C>T - F12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-62C>T r.(?) p.(=) - likely benign g.176836590G>A - F12(NM_000505.4):c.-62C>T - F12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-62C>T r.(=) p.(=) - likely pathogenic (recessive) g.176836590G>A g.177409589G>A c.[-62C>T];[-62C>T] - F12_000025 Homozygous carrier of c.-62C>T variant displays a very low FXII activity Journal: Demidova 2023 ClinVar-VCV000369463.4 - Germline - - - - - Christian Drouet
-?/. - c.-57G>C r.(?) p.(=) - likely benign g.176836585C>G g.177409584C>G F12(NM_000505.4):c.-57G>C - F12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-57G>C r.(?) p.(=) - likely benign g.176836585C>G g.177409584C>G F12(NM_000505.4):c.-57G>C - F12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-57G>C r.(=) p.(=) - likely pathogenic (recessive) g.176836585C>G g.177409584C>G c.[-57G>C];[-57G>C] - F12_000024 Homozygous proband plasma samples displays a very low FXII activity Journal: Demidova 2023 ClinVar-VCV000369462.10 rs41309132 Germline no 0.00220 - - - Christian Drouet
-/. - c.-4T>C r.(?) p.(=) - benign g.176836532A>G g.177409531A>G F12(NM_000505.4):c.-4T>C - F12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-4T>C r.(?) p.(=) - likely benign g.176836532A>G g.177409531A>G F12(NM_000505.4):c.-4T>C - F12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 c.-4T>C r.(?) p.(=) ACMG association g.176836532A>G g.177409531A>G - - F12_000010 c.-4T>C creates a new up-stream translational start codon, thereby attenuating formation of the authentic FXII protein; the variant, alias Kozak polymorphism, has been shown to modify the course of C1-INH-HAE; variant is overrepresented in a Spanish FXII-HAE cohort and significantly influences the degree of kallikrein-kinin system activation and the clinical severity c.-4C>T also decreases FXII activity when associated with F12 variants c.-62C>T, c.-57G>C, and strongly with c.1532-1G>A PubMed: Corvillo 2020, Journal: Corvillo 2020 Journal: Demidova 2023 ClinVar-VCV000001167.14 rs1801020 Germline - 32/39 homozygous, 7/39 heterozygous cases - - - Christian Drouet
-?/. _1 - r.(=) p.(=) - likely benign g.176841339T>C g.177414338T>C 46 C/C, -4811A>G - F12_000051 - PubMed: Chou 2022, Journal: Chou 2022 - rs2545801 Germline - - - - - Johan den Dunnen
-?/. - c.115+6T>G r.(=) p.(=) - likely benign g.176836041A>C g.177409040A>C F12(NM_000505.3):c.115+6T>G - F12_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.218G>C r.(?) p.(Cys73Ser) - VUS g.176832804C>G - F12(NM_000505.3):c.218G>C (p.C73S) - F12_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.218G>C r.(?) p.(Cys73Ser) - likely pathogenic g.176832804C>G - F12(NM_000505.3):c.218G>C (p.C73S) - F12_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.348C>A r.(?) p.(Gly116=) - likely benign g.176832373G>T g.177405372G>T F12(NM_000505.3):c.348C>A (p.G116=) - F12_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.398-12C>T r.(=) p.(=) - benign g.176832198G>A g.177405197G>A - - F12_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.418C>G r.(?) p.(Leu140Val) - likely benign g.176832166G>C g.177405165G>C F12(NM_000505.3):c.418C>G (p.L140V) - F12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.418C>G r.(?) p.(Leu140Val) - likely benign g.176832166G>C g.177405165G>C F12(NM_000505.3):c.418C>G (p.L140V) - F12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.418C>G r.(?) p.(Leu140Val) - likely benign g.176832166G>C - F12(NM_000505.3):c.418C>G (p.L140V) - F12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.552C>T r.(?) p.(Leu184=) - likely benign g.176831893G>A - F12(NM_000505.3):c.552C>T (p.L184=) - F12_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 c.615del r.(?) p.(Gly206Glufs*45) - likely pathogenic g.176831831del g.177404830del - - F12_000055 - Journal: Demidova 2023 - - Germline - - - - - Christian Drouet
-/. - c.619G>C r.(?) p.(Ala207Pro) - benign g.176831826C>G g.177404825C>G F12(NM_000505.4):c.619G>C (p.A207P) - F12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.619G>C r.(?) p.(Ala207Pro) - benign g.176831826C>G g.177404825C>G F12(NM_000505.4):c.619G>C (p.A207P) - F12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.711C>T r.(?) p.(Pro237=) - benign g.176831589G>A g.177404588G>A - - F12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.711C>T r.(=) p.(=) - benign g.176831589G>A g.177404588G>A - - F12_000009 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17876047 Germline - 15/2794 individuals - - - Mohammed Faruq
?/. 8 c.721T>G r.(?) p.(Trp241Gly) - VUS g.176831579A>C - - - F12_000043 - Journal: Matsukuma 2011 - - Germline - - - - - Christian Drouet
-/. - c.756C>T r.(?) p.(Ala252=) - benign g.176831544G>A g.177404543G>A - - F12_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 9 c.827G>A r.(?) p.(Trp276*) - VUS g.176831388C>T g.177404387C>T - - F12_000001 - PubMed: Bosch 2015, Journal: Bosch 2015 - - Germline - - - - - Danielle Bosch
-?/. - c.849C>T r.(?) p.(Asp283=) - likely benign g.176831366G>A g.177404365G>A F12(NM_000505.3):c.849C>T (p.D283=) - F12_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 9 c.859T>A r.(?) p.(Trp287Arg) - pathogenic g.176831356A>T - - - F12_000040 A spontaneously active p.(Trp287Arg) variant in the recombinantly production medium; prone to intracellular autoactivation and accelerationg FXII activation and overriding C1-INH control function. Journal: Hofman 2020 Journal: Scheffel 2020 - - Germline yes - - - - Christian Drouet
+?/. 9 c.894_911dup r.(?) p.(Gln300_Thr305dup) ACMG likely pathogenic g.176831306_176831323dup g.177404305_177404322dup - - F12_000036 Incomplete penetrance: 3 symptomatic individuals within 6 carriers of c.892_909dup variant Journal: Kiss 2013 - - Germline yes - - - - Christian Drouet
-?/. - c.914C>T r.(?) p.(Thr305Ile) - likely benign g.176831301G>A - F12(NM_000505.3):c.914C>T (p.T305I) - F12_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.922T>A r.(?) p.(Ser308Thr) - VUS g.176831293A>T - F12(NM_000505.3):c.922T>A (p.S308T) - F12_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9_9i c.971_1018+24del r.? p.? ACMG pathogenic g.176831175_176831246del g.177404174_177404245del - - F12_000037 - Journal: Bork 2011 Journal: Bork 2014 Journal: Veronez 2018 Journal: Veronez 2021 ClinVar-VCV000441533.1 rs1554097246 Germline yes - - - - Christian Drouet
+/. 9_9i c.971_1018+24del r.? p.? ACMG pathogenic g.176831175_176831246del g.177404174_177404245del - - F12_000037 - Journal: Bork 2011 ClinVar-VCV000441533.1 rs1554097246 Germline yes - - - - Christian Drouet
+/. - c.983C>A r.(?) p.(Thr328Lys) - pathogenic g.176831232G>T g.177404231G>T F12(NM_000505.4):c.983C>A (p.T328K) - F12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Charignon 2018 ClinVar-000001169 rs118204456 Germline yes - - - - Christian Drouet
+/. - c.983C>A r.(?) p.(Thr328Lys) - pathogenic g.176831232G>T - F12(NM_000505.4):c.983C>A (p.T328K) - F12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Numerous Brazilian pedigrees have been recorded as carrying a c.983C>A variant, with 94 families and 174 heterozygous carriers. Incomplete prenetrance: 56 asymptomatic relatives within 180 carriers of a c.983C>A variant. Journal: Veronez 2018 Journal: Veronez 2021 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (GnomAD_exome) - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T [983C>A];[983C>A] - F12_000008 Two Brazilian pedigrees have been recorded as segregating a c.983 C>A;(p.Thr328Lys) variant, with 1 homozygous carrier, one male and one female, in each family. Journal: Grumach 2016 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (GnomAD_exome) - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Important Italian cohort from that has been assessed a prevalence of 1:1.4 × E6 for HAE-F12 Journal: Bova 2020 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T c.1032C>A - F12_000008 The first French pedigree affected by HAE-F12. Incomplete penetrance: 8/13 affected individuals. Plasma displays a gain-of-function of kallikrein-kinin system; p.(Thr328Lys) exhibits a lower glycosylation, with subsequent increased autoactivation of zymogen F12. Thr to Lys transition has consequence on the protein’s folding and conformation, with an open or relaxed conformation facilitating the access of kallikrein and plasmin and exposing cryptic proteolytic targets for thrombin that are normally concealed and not accessible in the compact conformation of FXII. Journal: Martin 2001 Journal: Cichon 2006 Journal: Björkvist 2015 Journal: de Maat 2016 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (1/234142, GnomAD_exome) - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T c.1032C>A - F12_000008 Four independent German kindreds have been found as carrying a c.983C>A variant Journal: Dewald 2006 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 First Australian HAE-F12 case Journal: Bell 2008 - - Germline - - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 3 female individuals have been shown as affected. A single male carrier of c.983C>A variant is shown asymptomatic Journal: Prieto 2009 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 A single Canadian pedigree with 6 affected female individuals Affected females have polymorphisms associated with lower levels of both APP and ACE, the major enzymes responsible for bradykinin catabolism, making this observation the first one with multiple genes might contribute to estrogen-dependent or estrogenassociated HAE-F12 Journal: Duan 2009 - - Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 - Journal: Bork 2009 - - Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 A single French pedigree with women and man. C1Inh function drops of 10% to 40% compared to normal in female individuals, in line with the cleavage of the serpin from 105 to 95 kd without development of serpin-protease association, suggesting p.(Met328Lys) beyond the control of C1-INH Journal: Martin 2007 ClinVar-VCV000001169 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Symptomatic individuals have been found as carriers of a c.-2399C variant of XPNPEP2 gene, and a DD or ID polymporphism of ACE gene. Journal: Piñero-Saavedra 2016 ClinVar-VCV000001169.8 rs118204456 Germline/De novo (untested) yes 0.000004 (GnomAD_exome) - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Moreno 2015 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (GnomAD_exome) - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Four independent kindreds have been found as carrying a c.983C>A variant. Family 1, n=5 (female) Family 2, n=7 (female) Family 3, n=1 (female) Family 4, n=2 (female) All carriers also carry the same combined SNPs already described by Cichon 2006, demonstrating a common ancestor. Journal: Firinu 2015 ClinVar-VCV000001170.4 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Thirteen kindreds from North-Western Spain have been found as carrying a c.983C>A variant, with 29 affected individuals Journal: Marcos 2012 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 - Journal: Baeza 2011 - - Germline ? - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 Two families with 3 affected female individuals presenting with severe obstetrical complications Journal: Picone 2010 - - Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 A single British pedigree with 3 affected female individuals. The patients also carry the same combination of SNPs already observed in the first description by Cichon et al 2006, demonstrating c983C>A as a common ancestral variant among affected individuals in western Europe. Journal: Nagy 2009 - - Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T - - - F12_000008 A Spanish kindred has been shown as carrying a c.983C>A variant, with 2 affected individuals Journal: Veronez 2019 - - Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 24 French pedigrees have been shown as carrying a c.983C>A variant, with 57 affected individuals. Family origin: 12/24 from Northern Africa. Journal: Deroux 2016 ClinVar-VCV000001169 rs118204456 Germline yes - - - - Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Mendoza-Alvarez 2022 - - Germline yes - - - - Christian Drouet
+/. 9 c.983C>G r.(?) p.(Thr328Arg) ACMG pathogenic g.176831232G>C g.177404231G>C c.1032C>G - F12_000039 The first c.983C>G variant that has never been found Journal: Dewald 2006 VCV000001170.4 rs118204456 Germline yes - - - - Christian Drouet
-?/. - c.984G>C r.(?) p.(Thr328=) - likely benign g.176831231C>G g.177404230C>G F12(NM_000505.3):c.984G>C (p.T328=) - F12_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1018+13G>C r.(=) p.(=) - likely benign g.176831184C>G g.177404183C>G F12(NM_000505.3):c.1018+13G>C - F12_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1018+19del r.(=) p.(=) - benign g.176831186del g.177404185del F12(NM_000505.4):c.1018+19delG - F12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1018+19dup r.(=) p.(=) - likely benign g.176831186dup g.177404185dup F12(NM_000505.3):c.1018+19dupG - F12_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1018+19G>A r.(=) p.(=) - likely benign g.176831178C>T g.177404177C>T - - F12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1019-5C>T r.spl? p.? - likely benign g.176831096G>A - F12(NM_000505.4):c.1019-5C>T - F12_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1019-2A>C r.spl? p.? - pathogenic g.176831093T>G - F12(NM_000505.4):c.1019-2A>C - F12_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1025C>T r.(?) p.(Pro342Leu) - likely benign g.176831085G>A - F12(NM_000505.3):c.1025C>T (p.P342L) - F12_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1027G>C r.(?) p.(Ala343Pro) - likely benign g.176831083C>G g.177404082C>G F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P) - F12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1027G>C r.(?) p.(Ala343Pro) - likely benign g.176831083C>G g.177404082C>G - - F12_000014 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.023 - - - Global Variome, with Curator vacancy
-?/. - c.1027G>C r.(?) p.(Ala343Pro) - likely benign g.176831083C>G - F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P) - F12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 10 c.1027G>C r.(?) p.(Ala343Pro) - likely pathogenic g.176831083C>G g.177404082C>G - - F12_000014 Conflicting interpretations of pathogenicity Journal: Gelincik 2014 - rs183643295 De novo - 0.00315 (gnomAD, exome) - - - Christian Drouet
+?/. 10 c.1027G>C r.(?) p.(Ala343Pro) - likely benign g.176831083C>G g.177404082C>G 9775G>C - F12_000014 Conflicting interpretations of pathogenicity. Factor XII exhibits partially defective prekallikrein cleavage activity. Journal: Iijima 2011 ClinVar-VCV000225352.7 rs183643295 Germline yes - - - - Christian Drouet
-?/. - c.1027G>C r.(?) p.(Ala343Pro) - likely benign g.176831083C>G - F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P) - F12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1107G>C r.(?) p.(Ser369=) - likely benign g.176831003C>G g.177404002C>G F12(NM_000505.3):c.1107G>C (p.S369=) - F12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1140A>C r.(?) p.(Leu380=) - likely benign g.176830970T>G g.177403969T>G F12(NM_000505.3):c.1140A>C (p.L380=) - F12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 10 c.1182_1183del r.(?) p.(His394Glnfs*39) - likely pathogenic g.176830929_176830930del g.177403928_177403929del 1180_1181del - F12_000056 - Journal: Demidova 2023 - - Germline - - - - - Christian Drouet
-?/. - c.1251-9C>G r.(=) p.(=) - likely benign g.176830627G>C g.177403626G>C F12(NM_000505.3):c.1251-9C>G - F12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1251-9C>G r.(=) p.(=) - likely benign g.176830627G>C - F12(NM_000505.3):c.1251-9C>G - F12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1251-9C>T r.(=) p.(=) - benign g.176830627G>A g.177403626G>A F12(NM_000505.4):c.1251-9C>T - F12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1251-9C>T r.(=) p.(=) - benign g.176830627G>A g.177403626G>A F12(NM_000505.4):c.1251-9C>T - F12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1251-1G>A r.spl? p.? - pathogenic g.176830619C>T - F12(NM_000505.3):c.1251-1G>A - F12_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1281C>T r.(?) p.(Leu427=) - likely benign g.176830588G>A - F12(NM_000505.3):c.1281C>T (p.L427=) - F12_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1299C>T r.(?) p.(Asn433=) - likely benign g.176830570G>A g.177403569G>A F12(NM_000505.3):c.1299C>T (p.N433=) - F12_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1387+31G>A r.(=) p.(=) - likely benign g.176830451C>T g.177403450C>T - - F12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1388-15C>G r.(=) p.(=) - likely benign g.176830413G>C - F12(NM_000505.3):c.1388-15C>G - F12_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 12 c.1396C>A r.(?) p.(Arg466Ser) - likely pathogenic g.176830390G>T g.177403121G>T - - F12_000042 - Journal: Matsukuma 2011 - - Germline - - - - - Christian Drouet
+?/. 12 c.1530G>C r.(?) p.(Glu510Asp) ACMG VUS g.176830256C>G g.177403255C>G - - F12_000044 The variant c.1530G>C has been found in the asymptomatic father's DNA, congruent with an incomplete penetrance of HAE-FXII. c.1530G>C variant has been predicted as probably damaging by both the bioinformatic tools SIFT and PolyPhen2 Vatsiou 2018 (Alergia Astma Immunologia 2018, 23 (4): 205-210) VCV000983440.1 - Germline no - - - - Christian Drouet
+/. 12i c.1532-1G>A r.spl p.? - likely pathogenic g.176829700C>T g.177402699C>T - - F12_000054 - Journal: Demidova 2023 - - Germline - - - - - Christian Drouet
+/. 13 c.1556T>A r.(?) p.(Leu519Gln) - likely pathogenic (recessive) g.176829675A>T g.177402674A>T - - F12_000049 - PubMed: Chou 2022, Journal: Chou 2022 - - Germline - - - - - Christian Drouet
+/. 13 c.1561G>A r.(?) p.(Glu521Lys) - likely pathogenic (recessive) g.176829670C>T g.177402669C>T - - F12_000050 - PubMed: Chou 2022, Journal: Chou 2022 - - Germline - - - - - Christian Drouet
-?/. - c.1681-7G>A r.(=) p.(=) - likely benign g.176829467C>T g.177402466C>T F12(NM_000505.3):c.1681-7G>A - F12_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 13i c.1681-1G>A r.spl? p.? - VUS g.176829461C>T g.177402460C>T - - F12_000041 Conflicting interpretations of pathogenicity​. Variant described in an association with a FXII deficiency and also implicated in aHUS. No family history Journal: Gelincik 2014 ClinVar-VCV000001166.5 rs199988476 Germline/De novo (untested) - 0.00029 (gnomAD) - - - Christian Drouet
+/. 13i c.1681-1G>A r.spl? p.? - likely pathogenic g.176829461C>T g.177402460C>T 11396G>A - F12_000041 A truncated transcript has been shown. There are at least 2 more F12 variants of unknown nature that could impair FXII expression in affected individuals in the family Journal: Schloesser 1995 ClinVar-VCV000001166.5 rs199988476 Germline yes - - - - Christian Drouet
+/. 14 c.1681G>A r.(?) p.(Gly561Ser) - likely pathogenic (recessive) g.176829460C>T g.177402459C>T - - F12_000048 - PubMed: Chou 2022, Journal: Chou 2022 - - Germline - - - - - Christian Drouet
+/. 14 c.1681G>A r.(?) p.(Gly561Ser) - likely pathogenic (recessive) g.176829460C>T g.177402459C>T - - F12_000048 - PubMed: Chou 2022, Journal: Chou 2022 - - Germline - - - - - Christian Drouet
+/. 14 c.1681G>A r.(?) p.(Gly561Ser) - likely pathogenic (recessive) g.176829460C>T g.177402459C>T - - F12_000048 - PubMed: Chou 2022, Journal: Chou 2022 - - Germline - - - - - Christian Drouet
+/. 14 c.1681G>A r.(?) p.(Gly561Ser) - likely pathogenic (recessive) g.176829460C>T g.177402459C>T - - F12_000048 - PubMed: Chou 2022, Journal: Chou 2022 - - Germline - - - - - Christian Drouet
+/. 14 c.1748T>A r.(?) p.(Ile583Asn) - likely pathogenic (recessive) g.176829393A>T g.177402392A>T - - F12_000052 - PubMed: Jiang 2022, Journal: Jiang 2022 - - Germline - - - - - Christian Drouet
+?/. 14 c.1768T>G r.(?) p.(Cys590Gly) ACMG VUS g.176829373A>C g.177402372A>C - - F12_000038 p.(Cys590Gly) could affect the catalytic domain of F12 in a hotspot associated with protein deficiency and could be beneficial to C1-INH-HAE (Veronez CL 2019). Bioinformatic analysis by SIFT and PolyPhen2 algorithms predicted this mutation as deleterious and possibly damaging, respectively. Considered as of uncertain significance according to ACMG criteria PM2,PP3. Journal: Veronez 2019 ClinVar-VCV000983441.1 rs1157280571 Germline - 0/125,748 exomes - - - Christian Drouet
-/. - c.*4224G>A r.(=) p.(=) - benign g.176825069C>T g.177398068C>T SLC34A1(NM_003052.5):c.1702C>T (p.H568Y) - SLC34A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*4224G>A r.(=) p.(=) - benign g.176825069C>T g.177398068C>T SLC34A1(NM_003052.5):c.1702C>T (p.H568Y) - SLC34A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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