Unique variants in the FAH gene

Information The variants shown are described using the NM_000137.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Reported     

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     
-/. 1 - c.-105G>C r.(?) p.(=) - benign g.80445292G>C g.80152950G>C FAH(NM_000137.2):c.-105G>C - FAH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1A>G r.(?) p.(Met1?) - VUS g.80445397A>G - FAH(NM_000137.2):c.1A>G (p.M1?) - FAH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.14C>G r.(?) p.(Pro5Arg) - likely benign g.80445410C>G g.80153068C>G - - FAH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.82-13G>A r.(=) p.(=) - benign g.80450389G>A g.80158047G>A FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.150T>C r.(?) p.(Phe50=) - likely benign g.80450470T>C g.80158128T>C FAH(NM_000137.2):c.150T>C (p.F50=) - FAH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.181G>T r.(?) p.(Val61Phe) - benign, likely benign g.80450501G>T g.80158159G>T FAH(NM_000137.2):c.181G>T (p.V61F, p.(Val61Phe)) - FAH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 - c.190C>T r.(?) p.(Gln64Ter) - pathogenic g.80450510C>T g.80158168C>T - - FAH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.192G>C r.(?) p.(Gln64His) - likely pathogenic g.80450512G>C g.80158170G>C FAH(NM_000137.2):c.192G>C (p.Q64H) - FAH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., +/. 2 - c.192G>T r.(?) p.(Gln64His) - likely pathogenic, pathogenic g.80450512G>T g.80158170G>T FAH(NM_000137.2):c.192G>T (p.Q64H) - FAH_000005 VKGL data sharing initiative Nederland, 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338894 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.193-23T>C r.(=) p.(=) - benign g.80452075T>C g.80159733T>C FAH(NM_000137.2):c.193-23T>C - FAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.231C>T r.(?) p.(Ala77=) - likely benign g.80452136C>T g.80159794C>T FAH(NM_000137.2):c.231C>T (p.A77=) - FAH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., -/. 2 - c.267G>C r.(?) p.(Leu89=) - likely benign, benign g.80452172G>C g.80159830G>C FAH(NM_000137.2):c.267G>C (p.L89=) - FAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
-?/. 1 - c.306T>C r.(?) p.(Leu102=) - likely benign g.80452211T>C g.80159869T>C FAH(NM_000137.2):c.306T>C (p.L102=) - FAH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.314+26dup r.(=) p.(=) - likely benign g.80452245dup g.80159903dup FAH(NM_000137.2):c.314+26dupG - FAH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.314+49G>A r.(=) p.(=) - benign g.80452268G>A g.80159926G>A FAH(NM_000137.2):c.314+49G>A - FAH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.315-14G>A r.(=) p.(=) - benign g.80452738G>A g.80160396G>A FAH(NM_000137.2):c.315-14G>A - FAH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.315-3C>G r.spl? p.? - VUS g.80452749C>G g.80160407C>G FAH(NM_000137.2):c.315-3C>G (p.?) - FAH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.398A>C r.(?) p.(His133Pro) - likely pathogenic g.80454621A>C g.80162279A>C - - FAH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 5 c.424A>G r.(?) p.(Arg142Gly) - pathogenic g.80454647A>G g.80162305A>G - - FAH_000002 - - - - Germline - - - - - Patrick R. Blackburn
-/. 1 - c.483C>T r.(?) p.(Gly161=) - benign g.80460421C>T g.80168079C>T FAH(NM_000137.2):c.483C>T (p.G161=) - FAH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.497T>G r.(?) p.(Val166Gly) - pathogenic g.80460435T>G g.80168093T>G FAH(NM_000137.2):c.497T>G (p.V166G) - FAH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.553+10C>T r.(=) p.(=) - likely benign g.80460501C>T g.80168159C>T FAH(NM_000137.2):c.553+10C>T - FAH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.554-15C>T r.(=) p.(=) - benign g.80460591C>T g.80168249C>T FAH(NM_000137.2):c.554-15C>T - FAH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.554-1G>T r.spl? p.? - pathogenic g.80460605G>T g.80168263G>T FAH(NM_000137.2):c.554-1G>T - FAH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.578G>A r.(?) p.(Cys193Tyr) - pathogenic g.80460630G>A g.80168288G>A FAH(NM_000137.2):c.578G>A (p.C193Y) - FAH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.607-1G>A r.spl? p.? - pathogenic g.80464490G>A g.80172148G>A FAH(NM_000137.2):c.607-1G>A - FAH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.608C>T r.(?) p.(Ala203Val) - VUS g.80464492C>T g.80172150C>T FAH(NM_000137.2):c.608C>T (p.A203V) - FAH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.674T>G r.(?) p.(Ile225Ser) - VUS g.80464558T>G g.80172216T>G FAH(NM_000137.2):c.674T>G (p.I225S) - FAH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.709C>T r.(?) p.(Arg237Ter) - pathogenic g.80465358C>T g.80173016C>T FAH(NM_000137.2):c.709C>T (p.R237*) - FAH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.782C>T r.(?) p.(Pro261Leu) - VUS g.80465431C>T g.80173089C>T FAH(NM_000137.2):c.782C>T (p.P261L) - FAH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.837+2T>C r.spl? p.? - VUS g.80465488T>C g.80173146T>C FAH(NM_000137.2):c.837+2T>C - FAH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.921A>G r.(?) p.(Gly307=) - benign g.80469886A>G - FAH(NM_000137.2):c.921A>G (p.G307=) - FAH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.974C>T r.(?) p.(Thr325Met) - VUS g.80472479C>T g.80180137C>T FAH(NM_000137.2):c.974C>T (p.T325M) - FAH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1008C>T r.(?) p.(Asn336=) - likely benign g.80472513C>T g.80180171C>T FAH(NM_000137.2):c.1008C>T (p.N336=) - FAH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1009G>A r.(?) p.(Gly337Ser) - likely pathogenic g.80472514G>A g.80180172G>A - - FAH_000045 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338900 Germline - 2/2794 individuals - - - Mohammed Faruq
-/., ?/., -?/. 6 12 c.1021C>T r.(?) p.(Arg341Trp) - benign, VUS, likely benign g.80472526C>T g.80180184C>T FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland, 39 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11555096 CLASSIFICATION record, Germline - 39/2794 individuals - - - VKGL-NL_Utrecht, Gerard C.P. Schaafsma, VKGL-NL_VUmc, VKGL-NL_Groningen, Mohammed Faruq
?/. 1 - c.1025C>T r.(?) p.(Pro342Leu) - VUS g.80472530C>T g.80180188C>T FAH(NM_000137.2):c.1025C>T (p.P342L) - FAH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.1056C>T r.(?) p.(Ser352=) - benign g.80472561C>T g.80180219C>T FAH(NM_000137.2):c.1056C>T (p.S352=) - FAH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
?/., +?/. 2 - c.1062+5G>A r.spl? p.? - VUS, likely pathogenic g.80472572G>A g.80180230G>A FAH(NM_000137.2):c.1062+5G>A - FAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1069G>T r.(?) p.(Glu357Ter) - VUS g.80473390G>T g.80181048G>T FAH(NM_000137.2):c.1069G>T (p.E357*) - FAH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1090G>T r.(?) p.(Glu364Ter) - pathogenic g.80473411G>T g.80181069G>T FAH(NM_000137.2):c.1090G>T (p.E364*) - FAH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1097_1099del r.(?) p.(Ser366del) - likely pathogenic g.80473418_80473420del g.80181076_80181078del FAH(NM_000137.2):c.1097_1099delCGT (p.S366del) - FAH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1164T>C r.(?) p.(Asp388=) - likely benign g.80473485T>C g.80181143T>C - - FAH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1209C>T r.(?) p.(Ile403=) - benign g.80478500C>T g.80186158C>T FAH(NM_000137.2):c.1209C>T (p.I403=) - FAH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.1259G>A r.(?) p.(Ter420=) - benign, likely benign g.80478550G>A g.80186208G>A FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_Groningen
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