All variants in the FKTN gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001079802.1 transcript reference sequence.

358 entries on 4 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.-88-6T>C r.(=) p.(=) - likely benign g.108337220T>C g.105574939T>C FKTN(NM_001079802.1):c.-88-6T>C (p.(=)) - FKTN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/? 3 c.-45G>T r.(?) p.(=) - benign g.108337269G>T g.105574988G>T - - FKTN_000057 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 5' UTR c.-7C>G r.(?) p.(=) - VUS g.108337307C>G g.105575026C>G - - FKTN_000094 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.21C>T r.(?) p.(=) - VUS g.108337334C>T g.105575053C>T - - FKTN_000095 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.21C>T r.(?) p.(Asn7=) - likely benign g.108337334C>T g.105575053C>T FKTN(NM_006731.2):c.21C>T (p.N7=) - FKTN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.22G>A r.(?) p.(Val8Met) - VUS g.108337335G>A g.105575054G>A - - FKTN_000093 - Papuc et al., submitted - rs368981218 Germline - - - 0 - Anaïs Begemann
?/. - c.22G>T r.(?) p.(Val8Leu) - VUS g.108337335G>T g.105575054G>T FKTN(NM_001351496.2):c.22G>T (p.V8L), FKTN(NM_006731.2):c.22G>T (p.V8L) - FKTN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.22G>T r.(?) p.(Val8Leu) - VUS g.108337335G>T g.105575054G>T FKTN(NM_001351496.2):c.22G>T (p.V8L), FKTN(NM_006731.2):c.22G>T (p.V8L) - FKTN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3 c.41C>T r.(?) p.(Thr14Met) - VUS g.108337354C>T g.105575073C>T - - FKTN_000058 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 3 c.41C>T r.(?) p.(Thr14Met) - VUS g.108337354C>T g.105575073C>T - - FKTN_000058 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.41C>T r.(?) p.(Thr14Met) - VUS g.108337354C>T g.105575073C>T FKTN(NM_001351496.2):c.41C>T (p.T14M) - FKTN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.42del r.(?) p.(Leu15*) - pathogenic g.108337355del g.105575074del 42delG - FKTN_000092 - PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
-/. - c.42G>A r.(?) p.(Thr14=) - benign g.108337355G>A g.105575074G>A FKTN(NM_001079802.1):c.42G>A (p.T14=) - FKTN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.42G>A r.(?) p.(Thr14=) - benign g.108337355G>A g.105575074G>A FKTN(NM_001079802.1):c.42G>A (p.T14=) - FKTN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/? 3 c.42G>A r.(?) p.(=) - benign g.108337355G>A g.105575074G>A - - FKTN_000059 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-?/. - c.63G>C r.(?) p.(Leu21=) - likely benign g.108337376G>C g.105575095G>C FKTN(NM_001079802.1):c.63G>C (p.L21=) - FKTN_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3i c.105+36_105+39del r.(?) p.(=) - VUS g.108337454_108337457del g.105575173_105575176del 105+36_105+39delTCTT - FKTN_000060 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-/? 3i c.106-40A>G r.(?) p.(=) - benign g.108358839A>G g.105596558A>G - - FKTN_000061 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-/. - c.106-10G>A r.(=) p.(=) - benign g.108358869G>A g.105596588G>A FKTN(NM_001079802.1):c.106-10G>A - FKTN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.106-10G>A r.(=) p.(=) - benign g.108358869G>A g.105596588G>A FKTN(NM_001079802.1):c.106-10G>A - FKTN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/? 3i c.106-10G>A r.(?) p.(=) - benign g.108358869G>A g.105596588G>A - - FKTN_000062 - from website {DBsub-Emory} - - Unknown - Germline - 0 - Madhuri Hegde
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Kobayashi 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Matsumoto 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Vuillaumier-Barrot 2009 - - Germline - - - 0 - Rosário dos Santos
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Yis 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 4 c.143T>C r.(?) p.(Ile48Thr) - VUS g.108358916T>C g.105596635T>C - - FKTN_000096 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/? 4i c.165-6A>G r.(spl?) p.(?) - benign g.108358932A>G - - - FKTN_000031 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Godfrey 2007 - rs41277795 Germline - - - 0 - Johan den Dunnen
+?/. - c.165+1G>T r.spl? p.? - likely pathogenic g.108358939G>T - FKTN(NM_001351502.2):c.-350+1G>T - FKTN_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 4i c.165+29A>G r.(?) p.(=) - VUS g.108358967A>G g.105596686A>G - - FKTN_000063 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-?/. 4i c.165+835T>G r.(?) p.(=) - likely benign g.108359773T>G g.105597492T>G chr9:108359773T>G - FKTN_000091 - PubMed: Lim 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.165+1427A>G r.spl p.? - pathogenic g.108360365A>G g.105598084A>G NM_001351497.1:c.-2-2A>G - FKTN_000149 ACMG PVS1 PM2 PM3 PP3; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.165+1491G>A r.(=) p.(=) - likely benign g.108360429G>A g.105598148G>A FKTN(NM_001351497.2):c.61G>A (p.A21T) - FKTN_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.166-6A>G r.(=) p.(=) - benign g.108363420A>G g.105601139A>G FKTN(NM_001079802.1):c.166-6A>G, FKTN(NM_006731.2):c.166-6A>G - FKTN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.166-6A>G r.(=) p.(=) - benign g.108363420A>G g.105601139A>G FKTN(NM_001079802.1):c.166-6A>G, FKTN(NM_006731.2):c.166-6A>G - FKTN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 4i c.166-6A>G r.(?) p.(=) - VUS g.108363420A>G g.105601139A>G - - FKTN_000064 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 4i c.166-4A>G r.(?) p.(ins) - VUS g.108363422A>G g.105601141A>G - - FKTN_000046 predicted by in an silico model to create a new splice acceptor - - - Germline - - - 0 - Tom Winder
?/. 4i c.166-4A>G r.spl p.? - VUS g.108363422A>G g.105601141A>G - - FKTN_000046 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.166-4A>G r.spl? p.? - VUS g.108363422A>G g.105601141A>G FKTN(NM_006731.2):c.166-4A>G - FKTN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.166C>T r.(?) p.(Arg56Cys) - likely benign g.108363426C>T g.105601145C>T FKTN(NM_001079802.1):c.166C>T (p.R56C, p.(Arg56Cys)) - FKTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.166C>T r.(?) p.(Arg56Cys) - benign g.108363426C>T g.105601145C>T FKTN(NM_001079802.1):c.166C>T (p.R56C, p.(Arg56Cys)) - FKTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.166C>T r.(?) p.(Arg56Cys) - likely benign g.108363426C>T g.105601145C>T FKTN(NM_001079802.1):c.166C>T (p.R56C, p.(Arg56Cys)) - FKTN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/? 5 c.166C>T r.(spl?) p.(Arg56Cys) - benign g.108363426C>T g.105601145C>T 165C>T (erroneous) - FKTN_000030 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys) - likely benign g.108363426C>T g.105601145C>T - - FKTN_000030 - PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys) - likely benign g.108363426C>T g.105601145C>T - - FKTN_000030 - PubMed: Bouchet 2007 - - Germline - 7/214 - 0 - Johan den Dunnen
-/? 5 c.166C>T r.(?) p.(Arg56Cys) - benign g.108363426C>T g.105601145C>T - - FKTN_000030 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. - c.166C>T r.(?) p.(Arg56Cys) - VUS g.108363426C>T g.105601145C>T - - FKTN_000030 conflicting interpretations of pathogenicity; 11 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277797 Germline - 11/2794 individuals - 0 - Mohammed Faruq
?/. - c.166C>T r.(?) p.(Arg56Cys) - VUS g.108363426C>T g.105601145C>T - - FKTN_000030 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277797 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-?/. - c.167G>A r.(?) p.(Arg56His) - likely benign g.108363427G>A g.105601146G>A FKTN(NM_001079802.1):c.167G>A (p.(Arg56His)), FKTN(NM_001351497.1):c.98G>A (p.R33H) - FKTN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.167G>A r.(?) p.(Arg56His) - likely benign g.108363427G>A g.105601146G>A FKTN(NM_001079802.1):c.167G>A (p.(Arg56His)), FKTN(NM_001351497.1):c.98G>A (p.R33H) - FKTN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 5 c.167G>A r.(?) p.(Arg56His) - VUS g.108363427G>A g.105601146G>A - - FKTN_000065 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-?/. - c.187A>G r.(?) p.(Met63Val) - likely benign g.108363447A>G - FKTN(NM_006731.2):c.187A>G (p.M63V) - FKTN_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.187_188del r.(?) p.(Met63Valfs*13) - pathogenic g.108363447_108363448del g.105601166_105601167del - - FKTN_000003 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 138-195-143-191 PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.207T>C r.(?) p.(Asn69=) - likely benign g.108363467T>C g.105601186T>C FKTN(NM_001079802.1):c.207T>C (p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=) - FKTN_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.207T>C r.(?) p.(Asn69=) - likely benign g.108363467T>C g.105601186T>C FKTN(NM_001079802.1):c.207T>C (p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=) - FKTN_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.218T>C r.(?) p.(Phe73Ser) - pathogenic (recessive) g.108363478T>C g.105601197T>C - - FKTN_000141 - PubMed: Makrythanasis 2014 - - Germline - - - 0 - Johan den Dunnen
?/. - c.239T>C r.(?) p.(Leu80Pro) - VUS g.108363499T>C g.105601218T>C FKTN(NM_001351497.2):c.170T>C (p.L57P) - FKTN_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.266A>G r.(?) p.(Gln89Arg) - likely benign g.108363526A>G g.105601245A>G FKTN(NM_001079802.1):c.266A>G (p.(Gln89Arg)) - FKTN_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.277A>G r.(?) p.(Thr93Ala) - VUS g.108363537A>G g.105601256A>G FKTN(NM_006731.2):c.277A>G (p.T93A) - FKTN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.285T>C r.(?) p.(His95=) - likely benign g.108363545T>C - FKTN(NM_006731.2):c.285T>C (p.H95=) - FKTN_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 5 c.293C>T r.(?) p.(Thr98Ile) - VUS g.108363553C>T g.105601272C>T - - FKTN_000097 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.296C>T r.(?) p.(Ser99Leu) - VUS g.108363556C>T g.105601275C>T - - FKTN_000098 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.301T>C r.(?) p.(Cys101Arg) - VUS g.108363561T>C g.105601280T>C - - FKTN_000099 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.302G>T r.(?) p.(Cys101Phe) - pathogenic g.108363562G>T g.105601281G>T - - FKTN_000037 - PubMed: Arimura 2008 - - Germline - - - 0 - Rosário dos Santos
+?/. - c.314G>A r.(?) p.(Cys105Tyr) - likely pathogenic g.108363574G>A g.105601293G>A FKTN(NM_001079802.1):c.314G>A (p.C105Y) - FKTN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 4 c.314G>T r.(?) p.(Cys105Phe) - VUS g.108363574G>T g.105601293G>T - - FKTN_000056 - - - - Germline - - - 0 - Tom Winder
+?/. 4 c.314G>T r.(?) p.(Cys105Phe) - likely pathogenic g.108363574G>T g.105601293G>T - - FKTN_000056 - - - - Germline - - - 0 - Tom Winder
+/. - c.314G>T r.(?) p.(Cys105Phe) ACMG pathogenic g.108363574G>T g.105601293G>T - - FKTN_000056 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.330dup r.(?) p.(Thr111Tyrfs*13) - pathogenic g.108363590dup g.105601309dup 330dupT - FKTN_000100 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.340G>A r.(?) p.(Ala114Thr) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Puckett 2009 - - Germline - - - 0 - Tom Winder
+/. 5 c.340G>A r.(?) p.(Ala114Thr) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Puckett 2009 - - Germline - - - 0 - Tom Winder
+/. 5 c.340G>A r.(?) p.(Ala114Thr) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.340G>A r.(?) p.(Ala114Thr) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.345_346delinsCT r.(?) p.(Gln116*) - pathogenic g.108363605_108363606delinsCT g.105601324_105601325delinsCT - - FKTN_000011 not in 210 control chromosomes (Netherlands, Turkey) PubMed: Beltran-Valero 2003, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.345_346delinsCT r.(?) p.(Gln116*) - pathogenic g.108363605_108363606delinsCT g.105601324_105601325delinsCT - - FKTN_000011 not in 210 control chromosomes (Netherlands, Turkey) PubMed: Beltran-Valero 2003, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.(?) p.(Gln116*) - pathogenic g.108363606C>T g.105601325C>T - - FKTN_000050 - PubMed: Lim 2010 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.357A>G r.(?) p.(Leu119=) - likely benign g.108363617A>G g.105601336A>G FKTN(NM_006731.2):c.357A>G (p.L119=) - FKTN_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 5 c.366T>G r.(?) p.(Asn122Lys) - VUS g.108363626T>G g.105601345T>G - - FKTN_000101 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5i c.369+43C>T r.(?) p.(=) - VUS g.108363672C>T g.105601391C>T - - FKTN_000066 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.373G>A r.(?) p.(Gly125Ser) - benign g.108366499G>A g.105604218G>A FKTN(NM_001079802.1):c.373G>A (p.G125S), FKTN(NM_006731.2):c.373G>A (p.G125S) - FKTN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.373G>A r.(?) p.(Gly125Ser) - benign g.108366499G>A g.105604218G>A FKTN(NM_001079802.1):c.373G>A (p.G125S), FKTN(NM_006731.2):c.373G>A (p.G125S) - FKTN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 6 c.373G>A r.(?) p.(Gly125Ser) - pathogenic g.108366499G>A g.105604218G>A - - FKTN_000035 - {PMID18177472 :Cotarelo 2008}, OMIM:var0012 - - Germline - - Alu+ 0 - Rosário dos Santos
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - 0 - Tom Winder
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - 0 - Tom Winder
?/. 6 c.373G>A r.(?) p.(Gly125Ser) - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - 0 - Tom Winder
-/? 6 c.373G>A r.(?) p.(Gly125Ser) - benign g.108366499G>A g.105604218G>A - - FKTN_000035 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 6 c.374G>T r.(?) p.(Gly125Val) - VUS g.108366500G>T g.105604219G>T - - FKTN_000102 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
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