Unique variants in the FH gene

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

224 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
+?/+? 2 1 c.(?_-63)_(132+1_133-1)del r.spl? p.? - - - likely pathogenic g.(241680617_241682890)_(241683085_?)del - deletion exon 1, Deletion of Exon 1 - FH_000110, FH_000111 - PubMed: Ahvenainen - - Germline - - - - - Jean-Pierre Bayley
+?/+, ?/? 6 1_10 c.(?_-63)_(*271_?)del r.? p.? 0, 0.01 - - likely pathogenic, VUS g.(?_241660857)_(241683085_?)del - c.1-? c.*100del, Whole-gene deletion - FH_000001 not found in 300 chrom, whole-gene deletion PubMed: Alam, PubMed: Alam, PubMed: Gardie, PubMed: Smit, PubMed: Tomlinson - - Germline - - - - - Jean-Pierre Bayley
-?/., ?/-, ?/? 4 1 c.-11C>T r.(=), r.(?) p.(=) 0, 0.01 - - likely benign, VUS g.241683033G>A g.241519733G>A C>T -11 of ATG, FH(NM_000143.3):c.-11C>T, p.? - FH_000002 FH enzymatic activity : normal, VKGL data sharing initiative Nederland PubMed: Lehtonen - - CLASSIFICATION record, Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/? 1 - c.? r.? p.? - - - VUS g.? - P131R/exon 2 splice variant - FH_000012 - PubMed: Pollard - - Germline - - - - - Jean-Pierre Bayley
-?/., ?/. 4 - c.7C>G r.(?) p.(Arg3Gly) - - - likely benign, VUS g.241683016G>C g.241519716G>C FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G) - FH_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.33G>C r.(?) p.(Ser11=) - - - likely benign g.241682990C>G g.241519690C>G - - FH_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.53C>T r.(?) p.(Pro18Leu) - - - benign g.241682970G>A g.241519670G>A FH(NM_000143.3):c.53C>T (p.P18L) - FH_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/-? 1 1 c.105G>A r.(=) p.(=) - - - VUS g.241682918C>T g.241519618C>T c.-25G>A - FH_000133 FH enzymatic activity normal - - - Unknown - - - - - Audrey Remenieras
?/. 1 - c.132G>A r.(?) p.(Met44Ile) - - - VUS g.241682891C>T g.241519591C>T - - FH_000241 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863223982 Germline - 1/2791 individuals - - - Mohammed Faruq
-?/. 1 - c.132+16C>A r.(=) p.(=) - - - likely benign g.241682875G>T g.241519575G>T FH(NM_000143.3):c.132+16C>A - FH_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.132+20C>T r.(=) p.(=) - - - likely benign g.241682871G>A g.241519571G>A FH(NM_000143.3):c.132+20C>T - FH_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-? 2 1i c.132+71C>A r.(=) p.(=) - - - benign g.241682820G>T g.241519520G>T p.? - FH_000141 FH enzymatic activity normal, FH enzymatic activity: normal - - - Unknown - - - - - Audrey Remenieras
+?/+ 2 2 c.139C>A r.(?) p.(Gln47Lys) - - - likely pathogenic g.241680610G>T g.241517310G>T Gln4X, Q4X - FH_000003, FH_000004 not found in 300 chrom PubMed: Tomlinson, PubMed: Chuang - - Germline - - - - - Jean-Pierre Bayley
+/. 1 - c.139C>T r.(?) p.(Gln47*) - - - pathogenic g.241680610G>A g.241517310G>A - - FH_000161 - - - - Germline - - - - - Andreas Laner
?/+? 1 2 c.152G>A r.(?) p.(Arg51Gln) - - - VUS g.241680597C>T g.241517297C>T Arg8Glu - FH_000005 - PubMed: Kiuru - - Somatic - - - - - Jean-Pierre Bayley
?/. 1 2 c.157G>A r.(?) p.(Glu53Lys) damaging - - VUS g.241680592C>T g.241517292C>T - - FH_000176 - PubMed: Clark - - Unknown - - - - - Jean-Pierre Bayley
+/., +?/+ 3 2 c.157G>T r.(?) p.(Glu53*), p.(Glu53Ter) - - - likely pathogenic, pathogenic g.241680592C>A g.241517292C>A FH(NM_000143.3):c.157G>T (p.E53*) - FH_000115 VKGL data sharing initiative Nederland PubMed: Smit - - CLASSIFICATION record, Germline - - - - - Jean-Pierre Bayley, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/+ 1 2 c.178del r.(?) p.(Leu60*) - - - likely pathogenic g.241680571del g.241517271del 1-bp del. in codon 17 - FH_000006 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
+?/+ 1 2_3 c.195_268del r.(?) p.(Lys66Profs*4) - - - likely pathogenic g.241677015_241680556del g.241513715_241517256del 66del74bases - FH_000007 - PubMed: Coughlin - - De novo - - - - - Jean-Pierre Bayley
?/. 1 2 c.206G>T r.(?) p.(Gly69Val) - - - VUS g.241680543C>A g.241517243C>A G69V - FH_000175 - PubMed: Laufer - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.217G>A r.(?) p.(Val73Met) - - - likely benign g.241680532C>T g.241517232C>T - - FH_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 2 c.221del r.(?) p.(Arg74Asnfs*4) - - - pathogenic g.241680528del g.241517228del p.Arg31fs - FH_000146 - - - - Unknown - - - - - Audrey Remenieras
+?/+ 1 2 c.233del r.(?) p.(Asn78Thrfs*7) 0.01 - - likely pathogenic g.241680517del g.241517217del 233delA/N78fsX85 - FH_000008 - PubMed: Badeloe - - Germline - - - - - Jean-Pierre Bayley
+?/+ 1 2 c.239dup r.(?) p.(Ile81Aspfs*14) - - - likely pathogenic g.241680511dup g.241517211dup 111insA/K37 Frameshift - FH_000009 - PubMed: Wei - - Germline - - - - - Jean-Pierre Bayley
+/+ 1 2 c.256_257del r.(?) p.(Glu86Thrfs*8) - - - pathogenic g.241680493_241680494del g.241517193_241517194del p.Glu43fs - FH_000147 FH enzymatic activity 43% - - - Unknown - - - - - Audrey Remenieras
?/. 1 - c.260G>A r.(?) p.(Arg87His) - - - VUS g.241680489C>T g.241517189C>T FH(NM_000143.3):c.260G>A (p.R87H) - FH_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.263T>A r.(?) p.(Met88Lys) - - - VUS g.241680486A>T g.241517186A>T - - FH_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 1 2i c.267+1G>C r.spl? p.(=) - - - VUS g.241680481C>G g.241517181C>G (IVS2) 138+1G>C - FH_000010 - PubMed: Wei - - Germline - - - - - Jean-Pierre Bayley
+/+ 1 2i c.267+1_267+10del r.spl? p.(=) - - - pathogenic g.241680474_241680483del g.241517174_241517183del p.? - FH_000137 FH enzymatic activity 51% - - - Unknown - - - - - Audrey Remenieras
-/- 1 2i c.267+223A>T r.(=) p.(=) - - - benign g.241680259T>A g.241516959T>A IVS2 222A/T - FH_000011 - PubMed: Ylisaukko-oja - - Germline - - - - - Jean-Pierre Bayley
?/-? 1 2i c.268-87A>C r.(=) p.(=) - - - VUS g.241677100T>G g.241513800T>G p.? - FH_000144 - - - - Unknown - - - - - Audrey Remenieras
-/. 4 - c.268-22A>T r.(=) p.(=) - - - benign g.241677035T>A g.241513735T>A FH(NM_000143.3):c.268-22A>T - FH_000160 in combination with p.Arg233His (path. Mut.), VKGL data sharing initiative Nederland - - rs2275162 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/+ 1 2i c.268-2A>G r.spl? p.(=) - - - VUS g.241677015T>C g.241513715T>C (IVS2) A>G -2 IVS1 - FH_000013 - PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
+/. 1 - c.268-1G>C r.spl? p.? - - - pathogenic g.241677014C>G g.241513714C>G - - FH_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.276del r.(?) p.(Ile93Leufs*7) - - - pathogenic g.241677006del g.241513706del p.Ile50fs - FH_000134 FH enzymatic activity 41% - - - Unknown - - - - - Audrey Remenieras
?/. 1 - c.290G>A r.(?) p.(Gly97Asp) - - - VUS g.241676991C>T g.241513691C>T - - FH_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +?/+ 9 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic, pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435, p.Arg58X - FH_000014 FH enzymatic activity reduced, UK, USA, not found in 620 chrom PubMed: Pithukpakorn 2006, PubMed: Pollard, PubMed: Tomlinson, PubMed: Wei - - Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley
?/+? 1 3 c.302G>C r.(?) p.(Arg101Pro) - - - VUS g.241676979C>G g.241513679C>G 173 CGA>CCA R58P - FH_000015 - PubMed: Chan, PubMed: Heinritz - - Germline - - - - - Jean-Pierre Bayley
?/. 1 - c.308C>T r.(?) p.(Ala103Val) - - - VUS g.241676973G>A g.241513673G>A FH(NM_000143.3):c.308C>T (p.A103V) - FH_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/-?, -/., ?/? 5 3 c.309C>T r.(=), r.(?) p.(=), p.(Ala103=) - - - benign, VUS g.241676972G>A g.241513672G>A 309C>T (Ala103Ala), FH(NM_000143.3):c.309C>T (p.A103=), p.Ala60Ala - FH_000016 Fh activity : normal, VKGL data sharing initiative Nederland PubMed: Barker - rs10926501 CLASSIFICATION record, Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/+? 9 3 c.320A>C r.(?) p.(Asn107Thr) - - - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - - - Jean-Pierre Bayley
+?/. 1 - c.320A>T r.(?) p.(Asn107Ile) - - - likely pathogenic g.241676961T>A g.241513661T>A - - FH_000217 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/+ 7 3 c.349G>C r.(?) p.(Ala117Pro) 0, 0.42 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro, p.Ala74Pro - FH_000018 Fh enzymatic activity 41%, UK, not found in 300 chrom PubMed: Tomlinson - - Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley
+/+ 2 3 c.376_378+1delinsA r.spl? p.? 1 - - pathogenic g.241676902_241676905delinsT g.241513602_241513605delinsT p.Glu83fs - FH_000145 FH enzymatic activity 55%. Splicesite mutation. - - - Unknown - - - - - Audrey Remenieras
+/. 1 - c.378G>C r.(?) p.(Glu126Asp) - - - pathogenic g.241676903C>G g.241513603C>G - - FH_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 3i c.378+1del r.spl? p.(=) - - - likely pathogenic g.241676903del g.241513603del IVS3+1delG, Splice site - FH_000022 - PubMed: Badeloe - - Germline - - - - - Jean-Pierre Bayley
+/. 1 - c.378+2T>C r.spl? p.? - - - pathogenic g.241676901A>G g.241513601A>G - - FH_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.378+19G>A r.(=) p.(=) - - - likely benign g.241676884C>T - - - FH_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.378+145G>A r.(=) p.(=) - - - benign g.241676758C>T g.241513458C>T FH(NM_000143.3):c.378+145G>A - FH_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.379-49G>A r.(=) p.(=) - - - likely benign g.241675492C>T g.241512192C>T - - FH_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/- 1 3i c.379-22A>T r.(=) p.(=) - - - VUS g.241675465T>A g.241512165T>A (IVS3) IVS3-22A>T - FH_000021 - PubMed: Barker - - Germline - - - - - Jean-Pierre Bayley
-?/. 1 - c.379-15A>T r.(=) p.(=) - - - likely benign g.241675458T>A - - - FH_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 3 3i c.379-2A>G r.spl? p.(=) - - - pathogenic g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 50%, FH enzymatic activity 53% - - - Unknown - - - - - Audrey Remenieras
+/. 1 - c.379-1G>A r.spl? p.? - - - pathogenic g.241675444C>T g.241512144C>T - - FH_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 4 c.395T>C r.(?) p.(Leu132Ser) - - - VUS g.241675427A>G g.241512127A>G L89S - FH_000023 not in 320 chrom, reduced FH activity PubMed: Wei - - Germline - - - - - Jean-Pierre Bayley
?/+? 1 4 c.404A>G r.(?) p.(His135Arg) - - - VUS g.241675418T>C g.241512118T>C H92R - FH_000024 - PubMed: Chuang - - Germline - - - - - Jean-Pierre Bayley
?/+ 1 4 c.418del r.(?) p.(Val140Tyrfs*12) - - - VUS g.241675405del g.241512105del Gdel @ 288fs/97rSTOP - FH_000025 not found in 420 chrom PubMed: Toro 2003 - - Germline yes - - - - Jean-Pierre Bayley
?/. 1 4 c.419T>G r.(?) p.(Val140Gly) - - - VUS g.241675403A>C g.241512103A>C - - FH_000174 - PubMed: España - - Unknown - - - - - Jean-Pierre Bayley
?/+? 1 4 c.424C>A r.(?) p.(Gln142Lys) - - - VUS g.241675398G>T g.241512098G>T 424G > A/Q142K - FH_000026 - PubMed: Badeloe - - Germline - - - - - Jean-Pierre Bayley
+/+ 1 4 c.427del r.(?) p.(Thr143Leufs*9) - - - pathogenic g.241675395del g.241512095del p.Thr100fs - FH_000150 Fh enzymatic activity 45% - - - Unknown - - - - - Audrey Remenieras
+/., +?/+ 2 4 c.434C>G r.(?) p.(Ser145*), p.(Ser145Ter) - - - likely pathogenic, pathogenic g.241675388G>C g.241512088G>C S102X - FH_000027 not found in 320 chrom, VKGL data sharing initiative Nederland PubMed: Wei - - CLASSIFICATION record, Germline - - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
+/+ 1 4 c.442C>T r.(?) p.(Gln148*) - - - pathogenic g.241675380G>A g.241512080G>A p.Gln313X - FH_000123 - - - - Unknown - - - - - Audrey Remenieras
?/+? 1 4 c.473G>T r.(?) p.(Ser158Ile) - - - VUS g.241675349C>A g.241512049C>A S115I - FH_000028 - PubMed: Martinez-Mir - - Germline - - - - - Jean-Pierre Bayley
?/+? 1 4 c.478A>G r.(?) p.(Arg160Gly) - - - VUS g.241675344T>C g.241512044T>C R117G - FH_000029 not found in 320 chrom PubMed: Wei - - Germline - - - - - Jean-Pierre Bayley
+/? 2 4 c.512G>A r.(?) p.(Ser171Asn) - - - pathogenic g.241675310C>T g.241512010C>T - - FH_000154 - - - - Unknown - - - - - LAURENCE HUBERT
+/., +?/., ?/., ?/? 7 4 c.521C>G r.(?) p.(Pro174Arg) 0.15 missense - likely pathogenic, pathogenic, VUS g.241675301G>C g.241512001G>C 392C>G/P131R, 492C to G, P131R, FH(NM_000143.3):c.521C>G (p.P174R) - FH_000030 VKGL data sharing initiative Nederland Kimonis VE, Shih K, Mandell R, Shih VE., PubMed: Alam, PubMed: Pollard, PubMed: Zeng - - CLASSIFICATION record, Germline - - - - - James Whitworth, Jean-Pierre Bayley, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.532A>C r.(?) p.(Asn178His) - - - VUS g.241675290T>G - FH(NM_000143.3):c.532A>C (p.N178H) - FH_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+?, ?/+? 3 4 c.539A>G r.(?) p.(His180Arg) - - - pathogenic, VUS g.241675283T>C g.241511983T>C His137Arg, H137R, p.His137Arg - FH_000031 FH enzymatic activity : 45%, UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam - - Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley
?/+ 1 4 c.553C>T r.(?) p.(Gln185*) - - - VUS g.241675269G>A g.241511969G>A Q142X - FH_000032 - PubMed: Martinez-Mir - - Germline - - - - - Jean-Pierre Bayley
+/+? 1 4 c.554A>G r.(?) p.(Gln185Arg) 0.14 - - pathogenic g.241675268T>C g.241511968T>C Gln142Arg - FH_000033 UK, not found in 300 chrom PubMed: Tomlinson - - Germline - - - - - Jean-Pierre Bayley
+/+?, +?/+? 2 4i c.555+1G>A r.spl? p.(=) 0.15 - - likely pathogenic, pathogenic g.241675266C>T g.241511966C>T IVS4+1G > A, Splice site, p.? - FH_000034, FH_000127 FH enzymatic activity 61% PubMed: Badeloe - - Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley
?/- 1 4i c.555+32A>G r.(=) p.(=) - - - VUS g.241675235T>C g.241511935T>C (IVS4) IVS3 + 32A>G - FH_000035 - PubMed: Lehtonen - - Germline - - - - - Jean-Pierre Bayley
-/. 1 - c.555+148C>G r.(=) p.(=) - - - benign g.241675119G>C g.241511819G>C FH(NM_000143.3):c.555+148C>G - FH_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.557G>A r.(?) p.(Ser186Asn) - - - likely pathogenic g.241672084C>T g.241508784C>T - - FH_000240 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587782618 Germline - 1/2776 individuals - - - Mohammed Faruq
?/+? 1 5 c.560C>T r.(?) p.(Ser187Leu) 0.8 - - VUS g.241672081G>A g.241508781G>A S144L - FH_000037 not found in 420 chrom PubMed: Toro 2003 - - Germline yes - - - - Jean-Pierre Bayley
+/., ?/+?, ?/. 3 5 c.563A>G r.(?) p.(Asn188Ser) - - - pathogenic, VUS g.241672078T>C g.241508778T>C N145S - FH_000038 HGMD, not found in 420 chrom, VKGL data sharing initiative Nederland PubMed: Toro 2003 - - CLASSIFICATION record, Germline yes - - - - Andreas Laner, Jean-Pierre Bayley, VKGL-NL_Nijmegen
+/. 1 - c.565G>A r.(?) p.(Asp189Asn) - - - pathogenic g.241672076C>T g.241508776C>T - - FH_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 5 c.575C>T r.(?) p.(Pro192Leu) - - - VUS g.241672066G>A g.241508766G>A P149L - FH_000039 - PubMed: Chuang - - Germline - - - - - Jean-Pierre Bayley
?/. 1 5 c.580G>A r.(?) p.(Ala194Thr) - - - VUS g.241672061C>T g.241508761C>T - - FH_000173 - PubMed: Castro-Vega - - Unknown - - - - - Jean-Pierre Bayley
?/. 2 5 c.583A>G r.(?) p.(Met195Val) - - - VUS g.241672058T>C g.241508758T>C - - FH_000172 0/94 healthy Finnish controlls, LOH, VKGL data sharing initiative Nederland PubMed: Tolvanen - - CLASSIFICATION record, Unknown - - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
?/? 1 5 c.584T>C r.(?) p.(Met195Thr) - - - VUS g.241672057A>G g.241508757A>G M152T - FH_000040 not found in 420 chrom PubMed: Toro 2003 - - Germline yes - - - - Jean-Pierre Bayley
+/., ?/? 4 5 c.587A>G r.(?) p.(His196Arg) - - - pathogenic, VUS g.241672054T>C g.241508754T>C His153Arg - FH_000041 Finland, not in 268 chrom, VKGL data sharing initiative Nederland PubMed: Kiuru, PubMed: Lehtonen - - CLASSIFICATION record, Germline - - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
+/? 1 5 c.632T>C r.(?) p.(Leu211Pro) - - - pathogenic g.241672009A>G g.241508709A>G p.Leu168Pro - FH_000143 FH enzymatic activity 53% - - - Unknown - - - - - Audrey Remenieras
-?/. 3 - c.648T>A r.(?) p.(Asp216Glu) - - - likely benign g.241671993A>T g.241508693A>T FH(NM_000143.3):c.648T>A (p.D216E) - FH_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/? 1 5 c.653T>C r.(?) p.(Leu218Pro) - - - pathogenic g.241671988A>G g.241508688A>G - - FH_000153 - - - - Unknown - - - - - LAURENCE HUBERT
?/+ 3 5 c.671_672del r.(?) p.(Glu224Valfs*25) - - - VUS g.241671971_241671972del g.241508671_241508672del 2-bp del. in codon 181, 541delAG - FH_000042 Finland, not found in 300 chrom PubMed: Kiuru, PubMed: Tomlinson - - Germline, Somatic - - - - - Jean-Pierre Bayley
+/?, ?/? 2 5 c.686T>C r.(?) p.(Ile229Thr) - - - pathogenic, VUS g.241671955A>G g.241508655A>G I186T - FH_000044 - PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
?/? 1 5 c.686_688del r.(?) p.(Ile229del) 0 - - VUS g.241671957_241671959del g.241508657_241508659del delI186 - FH_000043 - PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
+/+?, +/., ?/+? 8 5 c.689A>G r.(?) p.(Lys230Arg) 0 - - pathogenic, VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom, VKGL data sharing initiative Nederland PubMed: Coughlin, PubMed: Manning, PubMed: Pollard, PubMed: Tomlinson, 1 more item - - CLASSIFICATION record, Germline yes - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
?/? 1 5 c.689_691del r.(?) p.(Lys230del) - - - VUS g.241671951_241671953del g.241508651_241508653del Lys del. in codon 187 - FH_000107 UK, not found in 300 chrom PubMed: Tomlinson - - Germline - - - - - Jean-Pierre Bayley
+?/+ 1 5 c.695del r.(?) p.(Gly232Aspfs*24) 0.03 - - likely pathogenic g.241671947del g.241508647del - - FH_000112 - PubMed: Parmentier - - Germline - - - - - Jean-Pierre Bayley
+/+, +/., +?/+, ?/+ 9 5 c.697C>T r.(?) p.(Arg233Cys) 0 - - likely pathogenic, pathogenic, VUS g.241671944G>A g.241508644G>A p.Arg190Cys, R190C - FH_000046 Fh enzymatic activity 47%, Not in 320 chrom, Ecuador, VKGL data sharing initiative Nederland PubMed: Chuang, PubMed: Wei, PubMed: Rustin, PubMed: Smit - - CLASSIFICATION record, Germline, Unknown - - - - - Audrey Remenieras, Jean-Pierre Bayley, VKGL-NL_Nijmegen
+/+?, +/., ?/+?, ?/? 9 5 c.698G>A r.(?) p.(Arg233His) 0.06, 0.25 - - pathogenic, VUS g.241671943C>T g.241508643C>T Arg190His, R190H, R233H, FH(NM_000143.3):c.698G>A (p.R233H) - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom, 1 more item PubMed: Gatalica, PubMed: Huter, PubMed: Loeffen, PubMed: Pollard, PubMed: Tomlinson, 1 more item - - CLASSIFICATION record, Germline, Somatic - - - - - Andreas Laner, Jean-Pierre Bayley, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/+? 2 5 c.698G>T r.(?) p.(Arg233Leu) 0 - - VUS g.241671943C>A g.241508643C>A R190L - FH_000047 not found in 420 chrom PubMed: Chuang, PubMed: Toro 2003 - - Germline yes - - - - Jean-Pierre Bayley
+/? 1 5 c.704A>G r.(?) p.(His235Arg) - - - pathogenic g.241671937T>C g.241508637T>C p.His192Arg - FH_000148 FH enzymatic activity 45% - - - Unknown - - - - - Audrey Remenieras
+/. 1 - c.709C>T r.(?) p.(Gln237Ter) - - - pathogenic g.241671932G>A g.241508632G>A - - FH_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 5 c.715G>A r.(?) p.(Ala239Thr) - - - VUS g.241671926C>T g.241508626C>T 586G>A/Ala196Thr - FH_000049 - PubMed: Lehtonen - - Somatic - - - - - Jean-Pierre Bayley
-?/. 1 - c.720T>C r.(?) p.(Val240=) - - - likely benign g.241671921A>G g.241508621A>G - - FH_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.731T>C r.(?) p.(Leu244Pro) - - - pathogenic g.241671910A>G g.241508610A>G - - FH_000163 - - - - Germline - - - - - Andreas Laner
+/+? 1 5i c.738+3A>G r.spl? p.(=) - - - pathogenic g.241671900T>C g.241508600T>C (IVS5) IVS4+ 3A>G - FH_000050 Leads to exon 4 deletion PubMed: Lehtonen - - Somatic - - - - - Jean-Pierre Bayley
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