Unique variants in gene FH

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.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.? 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.? g.(?_241660857)_(241683085_?)del - Whole-gene deletion, c.1-? c.*100del - FH_000001 not found in 300 chrom, whole-gene deletion PubMed: Tomlinson, PubMed: Alam, PubMed: Alam, PubMed: Smit, PubMed: Gardie - - Germline - - - - - Jean-Pierre Bayley
?/-, ?/?, -?/. 4 1 c.-11C>T likely benign r.(=) p.(=) g.241683033G>A g.241519733G>A C>T -11 of ATG, p.?, FH:NM_000143.3(FH):c.-11C>T (?), FH:c.-11C>T - FH_000002 FH enzymatic activity : normal, VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Lehtonen - - Germline, Unknown, CLASSIFICATION record - - - - - Jean-Pierre Bayley, Audrey Remenieras, VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/? 1 - c.? - r.? p.? g.? - P131R/exon 2 splice variant - FH_000012 - PubMed: Pollard - - Germline - - - - - Jean-Pierre Bayley
?/., -?/. 2 - c.7C>G VUS, likely benign r.(?) p.(Arg3Gly) g.241683016G>C - FH:NM_000143.3:c.7C>G (Arg3Gly), FH:c.7C>G (R3G) - FH_000195 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.33G>C likely benign r.(=) p.(=) g.241682990C>G - FH:NM_000143.3(FH):c.33G>C (=) - FH_000216 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/-? 1 1 c.105G>A - r.(=) p.(=) g.241682918C>T g.241519618C>T c.-25G>A - FH_000133 FH enzymatic activity normal - - - Unknown - - - - - Audrey Remenieras
-?/. 1 - c.132+16C>A likely benign r.(=) p.(=) g.241682875G>T - FH:c.132+16C>A - FH_000194 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-? 2 1i c.132+71C>A - r.(=) p.(=) 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) 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*) g.241680610G>A g.241517310G>A - - FH_000161 - - - - Germline - - - - - Andreas Laner
?/+? 1 2 c.152G>A - r.(?) p.(Arg51Gln) g.241680597C>T g.241517297C>T Arg8Glu - FH_000005 - PubMed: Kiuru - - Somatic - - - - - Jean-Pierre Bayley
?/. 1 2 c.157G>A - r.(?) p.(Glu53Lys) g.241680592C>T g.241517292C>T - - FH_000176 - PubMed: Clark - - Unknown - - - - - Jean-Pierre Bayley
+/., +?/+ 3 2 c.157G>T pathogenic r.(?) p.(Glu53*) g.241680592C>A g.241517292C>A FH:NM_000143.2:c.157G>T (Glu53*), FH:c.157G>T (E53*) - FH_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Smit - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley, VKGL-NL_Groningen
+?/+ 1 2 c.178del - r.(?) p.(Leu60*) 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) g.241677013_241680554del g.241513713_241517254del 66del74bases - FH_000007 - PubMed: Coughlin - - De novo - - - - - Jean-Pierre Bayley
?/. 1 2 c.206G>T - r.(?) p.(Gly69Val) g.241680543C>A g.241517243C>A G69V - FH_000175 - PubMed: Laufer - - Unknown - - - - - Jean-Pierre Bayley
+/+ 1 2 c.221del - r.(?) p.(Arg74Asnfs*4) g.241680528del g.241517228del p.Arg31fs - FH_000146 - - - - Unknown - - - - - Audrey Remenieras
+?/+ 1 2 c.233del - r.(?) p.(Asn78Thrfs*7) g.241680516del g.241517216del 233delA/N78fsX85 - FH_000008 - PubMed: Badeloe - - Germline - - - - - Jean-Pierre Bayley
+?/+ 1 2 c.239dup - r.(?) p.(Ile81Aspfs*14) g.241680510dup g.241517210dup 111insA/K37 Frameshift - FH_000009 - PubMed: Wei - - Germline - - - - - Jean-Pierre Bayley
+/+ 1 2 c.256_257del - r.(?) p.(Glu86Thrfs*8) g.241680492_241680493del g.241517192_241517193del p.Glu43fs - FH_000147 FH enzymatic activity 43% - - - Unknown - - - - - Audrey Remenieras
?/+ 1 2i c.267+1G>C - r.spl? p.(=) 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.(=) g.241680472_241680481del g.241517172_241517181del p.? - FH_000137 FH enzymatic activity 51% - - - Unknown - - - - - Audrey Remenieras
-/- 1 2i c.267+223A>T - r.(=) p.(=) 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.(=) g.241677100T>G g.241513800T>G p.? - FH_000144 - - - - Unknown - - - - - Audrey Remenieras
-/. 4 - c.268-22A>T benign r.(=) p.(=) g.241677035T>A g.241513735T>A FH:c.268-22A>T, FH:NM_000143.3:c.268-22A>T (?) - FH_000160 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item - - rs2275162 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Andreas Laner, VKGL-NL_Nijmegen
?/+ 1 2i c.268-2A>G - r.spl? p.(=) g.241677015T>C g.241513715T>C (IVS2) A>G -2 IVS1 - FH_000013 - PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
+/. 1 - c.268-1G>C pathogenic r.spl? p.? g.241677014C>G - FH:NM_000143.3:c.268-1G>C (?) - FH_000214 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.276del - r.(?) p.(Ile93Leufs*7) g.241677005del g.241513705del p.Ile50fs - FH_000134 FH enzymatic activity 41% - - - Unknown - - - - - Audrey Remenieras
?/. 1 - c.290G>A VUS r.(?) p.(Gly97Asp) g.241676991C>T - FH:NM_000143.3:c.290G>A (Gly97Asp) - FH_000213 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+, +/+ 10 3 c.301C>T pathogenic r.(?) p.(Arg101*) g.241676980G>A g.241513680G>A FH:NM_000143.3:c.301C>T (Arg101*), Arg58X, R58X, AAAins435, p.Arg58X - FH_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked, UK, USA, not found in 620 chrom, 1 more item PubMed: Tomlinson, PubMed: Wei, PubMed: Pollard, PubMed: Pithukpakorn 2006 - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley, Audrey Remenieras
?/+? 1 3 c.302G>C - r.(?) p.(Arg101Pro) g.241676979C>G g.241513679C>G 173 CGA>CCA R58P - FH_000015 - PubMed: Chan, PubMed: Heinritz - - Germline - - - - - Jean-Pierre Bayley
-/., ?/?, -/-? 5 3 c.309C>T benign r.(=) p.(=) g.241676972G>A g.241513672G>A FH:NM_000143.3:c.309C>T (=), FH:c.309C>T (=), 309C>T (Ala103Ala), p.Ala60Ala - FH_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked, Fh activity : normal PubMed: Barker - rs10926501 CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, Jean-Pierre Bayley, Audrey Remenieras
?/+? 9 3 c.320A>C - r.(?) p.(Asn107Thr) 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) g.241676961T>A - - - FH_000217 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/+ 7 3 c.349G>C - r.(?) p.(Ala117Pro) g.241676932C>G g.241513632C>G Ala74Pro, p.Ala74Pro - FH_000018 UK, not found in 300 chrom, Fh enzymatic activity 41% PubMed: Tomlinson - - Germline, Unknown - - - - - Jean-Pierre Bayley, Audrey Remenieras
+/+ 2 3 c.376_378+1delinsA - r.spl? p.? g.241676902_241676905delinsT g.241513602_241513605delinsT p.Glu83fs - FH_000145 FH enzymatic activity 55%. Splicesite mutation. - - - Unknown - - - - - Audrey Remenieras
+?/. 1 - c.378G>C likely pathogenic r.(?) p.(Glu126Asp) g.241676903C>G - FH:NM_000143.3:c.378G>C (Glu126Asp) - FH_000212 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 3i c.378+1del - r.spl? p.(=) g.241676902del g.241513602del IVS3+1delG, Splice site - FH_000022 - PubMed: Badeloe - - Germline - - - - - Jean-Pierre Bayley
+/. 1 - c.378+2T>C pathogenic r.spl? p.? g.241676901A>G - FH:NM_000143.2:c.378+2T>C (?) - FH_000211 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.378+145G>A benign r.(=) p.(=) g.241676758C>T - FH:c.378+145G>A - FH_000193 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/- 1 3i c.379-22A>T - r.(=) p.(=) g.241675465T>A g.241512165T>A (IVS3) IVS3-22A>T - FH_000021 - PubMed: Barker - - Germline - - - - - Jean-Pierre Bayley
+/+? 3 3i c.379-2A>G - r.spl? p.(=) g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 53%, FH enzymatic activity 50% - - - Unknown - - - - - Audrey Remenieras
+/. 1 - c.379-1G>A pathogenic r.spl? p.? g.241675444C>T - FH:NM_000143.3:c.379-1G>A (?) - FH_000210 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 4 c.395T>C - r.(?) p.(Leu132Ser) 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) g.241675418T>C g.241512118T>C H92R - FH_000024 - PubMed: Chuang - - Germline - - - - - Jean-Pierre Bayley
?/+ 1 4 c.418del - r.(?) p.(Val140Tyrfs*12) g.241675404del g.241512104del Gdel @ 288fs/97rSTOP - FH_000025 not found in 420 chrom PubMed: Toro - - Germline yes - - - - Jean-Pierre Bayley
?/. 1 4 c.419T>G - r.(?) p.(Val140Gly) g.241675403A>C g.241512103A>C - - FH_000174 - PubMed: España - - Unknown - - - - - Jean-Pierre Bayley
?/+? 1 4 c.424C>A - r.(?) p.(Gln142Lys) 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) g.241675395del g.241512095del p.Thr100fs - FH_000150 Fh enzymatic activity 45% - - - Unknown - - - - - Audrey Remenieras
+/., +?/+ 2 4 c.434C>G pathogenic r.(?) p.(Ser145*) g.241675388G>C g.241512088G>C FH:NM_000143.3:c.434C>G (Ser145*), S102X - FH_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked, not found in 320 chrom PubMed: Wei - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley
+/+ 1 4 c.442C>T - r.(?) p.(Gln148*) g.241675380G>A g.241512080G>A p.Gln313X - FH_000123 - - - - Unknown - - - - - Audrey Remenieras
?/+? 1 4 c.473G>T - r.(?) p.(Ser158Ile) g.241675349C>A g.241512049C>A S115I - FH_000028 - PubMed: Martinez-Mir - - Germline - - - - - Jean-Pierre Bayley
?/+? 1 4 c.478A>G - r.(?) p.(Arg160Gly) 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) g.241675310C>T g.241512010C>T - - FH_000154 - - - - Unknown - - - - - LAURENCE HUBERT
?/? 4 4 c.521C>G - r.(?) p.(Pro174Arg) g.241675301G>C g.241512001G>C 392C>G/P131R, 492C to G, P131R - FH_000030 - PubMed: Alam, PubMed: Zeng, PubMed: Pollard, Kimonis VE, Shih K, Mandell R, Shih VE. - - Germline - - - - - Jean-Pierre Bayley
?/+?, +/+? 3 4 c.539A>G - r.(?) p.(His180Arg) g.241675283T>C g.241511983T>C His137Arg, H137R, p.His137Arg - FH_000031 UK, not found in 300 chrom, FH enzymatic activity : 45% PubMed: Tomlinson, PubMed: Alam - - Germline, Unknown - - - - - Jean-Pierre Bayley, Audrey Remenieras
?/+ 1 4 c.553C>T - r.(?) p.(Gln185*) g.241675269G>A g.241511969G>A Q142X - FH_000032 - PubMed: Martinez-Mir - - Germline - - - - - Jean-Pierre Bayley
+/+? 1 4 c.554A>G - r.(?) p.(Gln185Arg) 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.(=) g.241675266C>T g.241511966C>T IVS4+1G > A, Splice site, p.? - FH_000034, FH_000127 FH enzymatic activity 61% PubMed: Badeloe - - Germline, Unknown - - - - - Jean-Pierre Bayley, Audrey Remenieras
?/- 1 4i c.555+32A>G - r.(=) p.(=) g.241675235T>C g.241511935T>C (IVS4) IVS3 + 32A>G - FH_000035 - PubMed: Lehtonen - - Germline - - - - - Jean-Pierre Bayley
-/. 1 - c.555+148C>G benign r.(=) p.(=) g.241675119G>C - FH:c.555+148C>G - FH_000192 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/+? 1 5 c.560C>T - r.(?) p.(Ser187Leu) g.241672081G>A g.241508781G>A S144L - FH_000037 not found in 420 chrom PubMed: Toro - - Germline yes - - - - Jean-Pierre Bayley
?/., +/., ?/+? 3 5 c.563A>G pathogenic r.(?) p.(Asn188Ser) g.241672078T>C g.241508778T>C FH:NM_000143,3:c.563A>G (Asn188Ser), N145S - FH_000038 HGMD, VKGL data sharing initiative Nederland; correct HGVS to be checked, not found in 420 chrom PubMed: Toro - - Germline, CLASSIFICATION record yes - - - - Andreas Laner, VKGL-NL_Nijmegen, Jean-Pierre Bayley
+/. 1 - c.565G>A pathogenic r.(?) p.(Asp189Asn) g.241672076C>T - FH:NM_000143.3:c.565G>A (Asp189Asn) - FH_000209 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 5 c.575C>T - r.(?) p.(Pro192Leu) g.241672066G>A g.241508766G>A P149L - FH_000039 - PubMed: Chuang - - Germline - - - - - Jean-Pierre Bayley
?/. 1 5 c.580G>A - r.(?) p.(Ala194Thr) g.241672061C>T g.241508761C>T - - FH_000173 - PubMed: Castro-Vega - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 5 c.583A>G - r.(?) p.(Met195Val) g.241672058T>C g.241508758T>C - - FH_000172 0/94 healthy Finnish controlls, LOH PubMed: Tolvanen - - Unknown - - - - - Jean-Pierre Bayley
?/? 1 5 c.584T>C - r.(?) p.(Met195Thr) g.241672057A>G g.241508757A>G M152T - FH_000040 not found in 420 chrom PubMed: Toro - - Germline yes - - - - Jean-Pierre Bayley
+/., ?/? 4 5 c.587A>G pathogenic r.(?) p.(His196Arg) g.241672054T>C g.241508754T>C FH:NM_000143.2:c.587A>G (His196Arg), His153Arg - FH_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked, Finland, not in 268 chrom PubMed: Kiuru, PubMed: Lehtonen - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley
+/? 1 5 c.632T>C - r.(?) p.(Leu211Pro) g.241672009A>G g.241508709A>G p.Leu168Pro - FH_000143 FH enzymatic activity 53% - - - Unknown - - - - - Audrey Remenieras
-?/. 2 - c.648T>A likely benign r.(?) p.(Asp216Glu) g.241671993A>T - FH:c.648T>A (D216E) - FH_000215 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/? 1 5 c.653T>C - r.(?) p.(Leu218Pro) g.241671988A>G g.241508688A>G - - FH_000153 - - - - Unknown - - - - - LAURENCE HUBERT
?/+ 3 5 c.671_672del - r.(?) p.(Glu224Valfs*25) g.241671969_241671970del g.241508669_241508670del 2-bp del. in codon 181, 541delAG - FH_000042 Finland, not found in 300 chrom PubMed: Tomlinson, PubMed: Kiuru - - Germline, Somatic - - - - - Jean-Pierre Bayley
+/?, ?/? 2 5 c.686T>C - r.(?) p.(Ile229Thr) g.241671955A>G g.241508655A>G I186T - FH_000044 - PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
?/? 1 5 c.686_688del - r.(?) p.(Ile229del) g.241671953_241671955del g.241508653_241508655del delI186 - FH_000043 - PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
+/., +/+?, ?/+? 8 5 c.689A>G pathogenic r.(?) p.(Lys230Arg) g.241671952T>C g.241508652T>C FH:NM_000143.3:c.689A>G (Lys230Arg), Lys187Arg, K187R - FH_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked, UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Coughlin, PubMed: Manning, PubMed: Pollard, 1 more item - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley
?/? 1 5 c.689_691del - r.(?) p.(Lys230del) g.241671950_241671952del g.241508650_241508652del 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) g.241671946del g.241508646del - - FH_000112 - PubMed: Parmentier - - Germline - - - - - Jean-Pierre Bayley
+/+, +/., ?/+, +?/+ 9 5 c.697C>T pathogenic r.(?) p.(Arg233Cys) g.241671944G>A g.241508644G>A p.Arg190Cys, FH:NM_000143.3:c.697C>T (Arg233Cys), R190C - FH_000046 Fh enzymatic activity 47%, VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Rustin, PubMed: Chuang, PubMed: Wei, PubMed: Smit - - Unknown, CLASSIFICATION record, Germline - - - - - Audrey Remenieras, VKGL-NL_Nijmegen, Jean-Pierre Bayley
+/+?, ?/+?, ?/?, +/. 8 5 c.698G>A pathogenic r.(?) p.(Arg233His) g.241671943C>T g.241508643C>T Arg190His, R190H, R233H, FH:NM_000143.3:c.698G>A (Arg233His) - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom, 1 more item PubMed: Tomlinson, PubMed: Alam, PubMed: Wei, PubMed: Chuang, PubMed: Toro 17960613, PubMed: Loeffen, 4 more items - - Germline, Somatic, CLASSIFICATION record - - - - - Jean-Pierre Bayley, Andreas Laner, VKGL-NL_Nijmegen
?/+? 2 5 c.698G>T - r.(?) p.(Arg233Leu) g.241671943C>A g.241508643C>A R190L - FH_000047 not found in 420 chrom PubMed: Chuang, PubMed: Toro - - Germline yes - - - - Jean-Pierre Bayley
+/? 1 5 c.704A>G - r.(?) p.(His235Arg) g.241671937T>C g.241508637T>C p.His192Arg - FH_000148 FH enzymatic activity 45% - - - Unknown - - - - - Audrey Remenieras
?/+? 1 5 c.715G>A - r.(?) p.(Ala239Thr) g.241671926C>T g.241508626C>T 586G>A/Ala196Thr - FH_000049 - PubMed: Lehtonen - - Somatic - - - - - Jean-Pierre Bayley
-?/. 1 - c.720T>C likely benign r.(=) p.(=) g.241671921A>G - FH:NM_000143.3:c.720T>C (=) - FH_000208 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.731T>C - r.(?) p.(Leu244Pro) g.241671910A>G g.241508610A>G - - FH_000163 - - - - Germline - - - - - Andreas Laner
+/+? 1 5i c.738+3A>G - r.spl? p.(=) g.241671900T>C g.241508600T>C (IVS5) IVS4+ 3A>G - FH_000050 Leads to exon 4 deletion PubMed: Lehtonen - - Somatic - - - - - Jean-Pierre Bayley
?/- 1 5i c.739-15T>G - r.(=) p.(=) g.241669483A>C g.241506183A>C -15 splice site 5 - FH_000051 not found in 300 chrom PubMed: Tomlinson - - Germline - - - - - Jean-Pierre Bayley
+/? 1 6 c.761A>G - r.(?) p.(Gln254Arg) g.241669446T>C g.241506146T>C p.Gln211Arg - FH_000139 FH enzymatic activity 35% - - - Unknown - - - - - Audrey Remenieras
+/. 1 - c.773C>A pathogenic r.(?) p.(Ala258Glu) g.241669434G>T - FH:NM_000143.2:c.874_877delAAGG (Lys292fs) - FH_000207 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 6 c.782G>T - r.(?) p.(Arg261Ile) g.241669425C>A g.241506125C>A - - FH_000171 - PubMed: Ezgu - - Unknown - - - - - Jean-Pierre Bayley
+/? 1 6 c.795del - r.(?) p.(Met266Cysfs*18) g.241669412del g.241506112del p.Met223fs - FH_000136 FH enzymatic activity 49% - - - Unknown - - - - - Audrey Remenieras
-/. 1 - c.802A>G benign r.(?) p.(Arg268Gly) g.241669405T>C - FH:NM_000143.3:c.802A>G (Arg268Gly) - FH_000206 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.816_836del pathogenic r.(?) p.(Ala273_Val279del) g.241669371_241669391del - FH:NM_000143.2:c.816_836del (Ala273_Val279del) - FH_000204 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 6 c.820G>A - r.(?) p.(Ala274Thr) g.241669387C>T g.241506087C>T 691G>A/Ala231Thr - FH_000053 - PubMed: Ylisaukko-oja - - Germline - - - - - Jean-Pierre Bayley
?/? 1 6 c.821C>T - r.(?) p.(Ala274Val) g.241669386G>A g.241506086G>A - - FH_000156 Low Grantham and high SIFT score - pathogenic? PubMed: Marque - - Germline - - - - - Jean-Pierre Bayley
+?/+?, +/. 2 6 c.824G>A pathogenic r.(?) p.(Gly275Glu) g.241669383C>T g.241506083C>T FH:NM_000143.3:c.824G>A (Gly275Glu) - FH_000114 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Smit - - Germline, CLASSIFICATION record - - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
+?/. 1 - c.830C>T likely pathogenic r.(?) p.(Thr277Ile) g.241669377G>A - FH:NM_000143.2:c.830C>T (Thr277Ile) - FH_000205 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+?, ?/+? 3 6 c.845G>T - r.(?) p.(Gly282Val) g.241669362C>A g.241506062C>A Gly239Val, G239V - FH_000054 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam - - Germline - - - - - Jean-Pierre Bayley
?/+ 1 6 c.848T>G - r.(?) p.(Leu283*) g.241669359A>C g.241506059A>C Leu240Stop - FH_000055 - PubMed: Kiuru - - Somatic - - - - - Jean-Pierre Bayley
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