Unique 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.

145 entries on 2 pages. Showing entries 1 - 100.
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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.-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 - - - - - VKGL-NL_Leiden
-/? 1 3 c.-45G>T r.(?) p.(=) - benign g.108337269G>T g.105574988G>T - - FKTN_000057 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 5' UTR c.-7C>G r.(?) p.(=) - VUS g.108337307C>G g.105575026C>G - - FKTN_000094 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 3 c.21C>T r.(?) p.(=), p.(Asn7=) - likely benign, VUS g.108337334C>T g.105575053C>T FKTN(NM_006731.2):c.21C>T (p.N7=) - FKTN_000095 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
?/. 1 - c.22G>A r.(?) p.(Val8Met) - VUS g.108337335G>A g.105575054G>A - - FKTN_000093 - Papuc et al., submitted - rs368981218 Germline - - - - - Anaïs Begemann
?/. 2 - 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_Rotterdam, VKGL-NL_Utrecht
?/. 3 3 c.41C>T r.(?) p.(Thr14Met) - VUS g.108337354C>T g.105575073C>T FKTN(NM_001351496.2):c.41C>T (p.T14M) - FKTN_000058 no second variant, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline, Unknown - - - - - Madhuri Hegde, VKGL-NL_Groningen
+/. 1 - c.42del r.(?) p.(Leu15*) - pathogenic g.108337355del g.105575074del 42delG - FKTN_000092 - PubMed: Mercuri 2009 - - Germline - - - - - Johan den Dunnen
-/., -/? 3 3 c.42G>A r.(?) p.(=), 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 from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - 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
?/. 1 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 - - - - - Madhuri Hegde
-/? 1 3i c.106-40A>G r.(?) p.(=) - benign g.108358839A>G g.105596558A>G - - FKTN_000061 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-/., -/? 3 3i c.106-10G>A r.(=), r.(?) p.(=) - benign g.108358869G>A g.105596588G>A FKTN(NM_001079802.1):c.106-10G>A - FKTN_000062 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - Germline - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 11 4 c.139C>T r.(?) p.(Arg47*) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 no second variant PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002, PubMed: Kobayashi 2001, 4 more items - - Germline - - AluI+ - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde
?/. 1 4 c.143T>C r.(?) p.(Ile48Thr) - VUS g.108358916T>C g.105596635T>C - - FKTN_000096 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/? 1 4i c.165-6A>G r.(spl?) p.(?) - benign g.108358932A>G - - - FKTN_000031 1 more item PubMed: Godfrey 2007 - rs41277795 Germline - - - - - Johan den Dunnen
+?/. 1 - 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
?/. 1 4i c.165+29A>G r.(?) p.(=) - VUS g.108358967A>G g.105596686A>G - - FKTN_000063 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-?/. 1 4i c.165+835T>G r.(?) p.(=) - likely benign g.108359773T>G g.105597492T>G chr9:108359773T>G - FKTN_000091 - PubMed: Lim 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 - 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 - - - - - Johan den Dunnen
-?/. 1 - 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
-/., ?/. 3 4i c.166-6A>G r.(=), r.(?) p.(=) - benign, VUS 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 from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 3 4i c.166-4A>G r.(?), r.spl, r.spl? p.(ins), p.? - VUS g.108363422A>G g.105601141A>G FKTN(NM_006731.2):c.166-4A>G - FKTN_000046 no second variant, predicted by in an silico model to create a new splice acceptor, 1 more item PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Tom Winder, VKGL-NL_Rotterdam
-/., -/?, -?/., ?/. 9 5 c.166C>T r.(?), r.(spl?) p.(Arg56Cys) - benign, likely benign, VUS g.108363426C>T g.105601145C>T 165C>T (erroneous), FKTN(NM_001079802.1):c.166C>T (p.R56C, p.(Arg56Cys)) - FKTN_000030 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India), 2 more items from website {DBsub-Emory}, PubMed: Bouchet 2007, PubMed: Godfrey 2007, 1 more item - rs41277797 CLASSIFICATION record, Germline, Unknown - 1/2794 individuals, 11/2794 individuals, 7/214 - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
-?/., ?/. 3 5 c.167G>A r.(?) p.(Arg56His) - likely benign, VUS 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 from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - 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
+/. 1 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 - - - - - Johan den Dunnen
-?/. 2 - 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, VKGL-NL_Utrecht
+/. 1 - c.218T>C r.(?) p.(Phe73Ser) - pathogenic (recessive) g.108363478T>C g.105601197T>C - - FKTN_000141 - PubMed: Makrythanasis 2014 - - Germline - - - - - Johan den Dunnen
?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
?/. 1 5 c.293C>T r.(?) p.(Thr98Ile) - VUS g.108363553C>T g.105601272C>T - - FKTN_000097 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.296C>T r.(?) p.(Ser99Leu) - VUS g.108363556C>T g.105601275C>T - - FKTN_000098 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.301T>C r.(?) p.(Cys101Arg) - VUS g.108363561T>C g.105601280T>C - - FKTN_000099 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 5 c.302G>T r.(?) p.(Cys101Phe) - pathogenic g.108363562G>T g.105601281G>T - - FKTN_000037 - PubMed: Arimura 2008 - - Germline - - - - - Rosário dos Santos
+?/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/., +?/., ?/. 3 4 c.314G>T r.(?) p.(Cys105Phe) ACMG likely pathogenic, pathogenic, VUS g.108363574G>T g.105601293G>T - - FKTN_000056 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 1 5 c.330dup r.(?) p.(Thr111Tyrfs*13) - pathogenic g.108363590dup g.105601309dup 330dupT - FKTN_000100 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 4 5 c.340G>A r.(?) p.(Ala114Thr) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Godfrey 2007, PubMed: Puckett 2009 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 2 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 - - - - - Johan den Dunnen
+/. 1 5 c.346C>T r.(?) p.(Gln116*) - pathogenic g.108363606C>T g.105601325C>T - - FKTN_000050 - PubMed: Lim 2010 - - Germline - - - - - Johan den Dunnen
-?/. 1 - 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
?/. 1 5 c.366T>G r.(?) p.(Asn122Lys) - VUS g.108363626T>G g.105601345T>G - - FKTN_000101 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5i c.369+43C>T r.(?) p.(=) - VUS g.108363672C>T g.105601391C>T - - FKTN_000066 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/., -/., -/?, ?/. 14 6 c.373G>A r.(?) p.(Gly125Ser) - benign, pathogenic, VUS 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 from website {DBsub-Emory}, {PMID18177472 :Cotarelo 2008}, OMIM:var0012 - - CLASSIFICATION record, Germline, Unknown - - Alu+ - - Gerard C.P. Schaafsma, Rosário dos Santos, Madhuri Hegde, Tom Winder, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 3 6 c.374G>T r.(?) p.(Gly125Val) - likely benign, VUS g.108366500G>T g.105604219G>T - - FKTN_000102 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Nijmegen
-?/. 1 - c.382C>T r.(?) p.(Arg128Trp) - likely benign g.108366508C>T g.105604227C>T FKTN(NM_001079802.1):c.382C>T (p.(Arg128Trp)) - FKTN_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 6 c.383G>A r.(?) p.(Arg128Gln) - VUS g.108366509G>A g.105604228G>A - - FKTN_000103 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 6 c.385del r.(?) p.(Ile129*) - pathogenic g.108366511del g.105604230del - - FKTN_000038 - PubMed: Manzini 2008, PubMed: Willer 2012 - - Germline - - - - - Rosário dos Santos
?/. 1 - c.389C>T r.(?) p.(Ala130Val) - VUS g.108366515C>T g.105604234C>T FKTN(NM_001351497.2):c.320C>T (p.A107V) - FKTN_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.411C>A r.(?) p.(Cys137*) - likely pathogenic g.108366537C>A g.105604256C>A - - FKTN_000138 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs537001725 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 6 c.443A>G r.(?) p.(Asp148Gly) - VUS g.108366569A>G g.105604288A>G - - FKTN_000104 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 6 c.445G>A r.(?) p.(Gly149Arg) - VUS g.108366571G>A g.105604290G>A - - FKTN_000105 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 6 c.448A>G r.(?) p.(Ile150Val) - VUS g.108366574A>G g.105604293A>G - - FKTN_000106 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 6 c.454dup r.(?) p.(Ser152Phefs*6) - pathogenic g.108366580dup g.105604299dup 504insT - FKTN_000010 - PubMed: Silan 2003, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
?/. 2 6 c.485A>G r.(?) p.(Tyr162Cys) - VUS g.108366611A>G g.105604330A>G - - FKTN_000107 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 6 c.509C>A r.(?) p.(Ala170Glu) - pathogenic g.108366635C>A g.105604354C>A - - FKTN_000041 - PubMed: Vuillaumier-Barrot 2009 - - Germline - - - - - Rosário dos Santos
+/. 1 6 c.515A>G r.(?) p.(His172Arg) - pathogenic g.108366641A>G g.105604360A>G - - FKTN_000018 - PubMed: Matsumoto 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.526T>G r.(?) p.(Phe176Val) - VUS g.108366652T>G g.105604371T>G - - FKTN_000108 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 6 c.527T>C r.(?) p.(Phe176Ser) - pathogenic g.108366653T>C g.105604372T>C - - FKTN_000023 not in 180 control chromosomes PubMed: Puckett 2009 - - Germline - - - - - Tom Winder
+/. 4 6 c.536G>C r.(?) p.(Arg179Thr) - pathogenic g.108366662G>C g.105604381G>C - - FKTN_000044 not in 100 control chromosomes PubMed: Murakami 2006, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.556C>T r.(?) p.(His186Tyr) - VUS g.108366682C>T g.105604401C>T FKTN(NM_001351502.2):c.160C>T (p.H54Y) - FKTN_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 6 c.557A>G r.(?) p.(His186Arg) - pathogenic g.108366683A>G g.105604402A>G - - FKTN_000040 - PubMed: Manzini 2008 - - Germline - - - - - Rosário dos Santos
+/. 1 - c.607C>T r.(?) p.(Arg203*) - pathogenic g.108366733C>T g.105604452C>T NM_001351497.1:c.538C>T - FKTN_000150 ACMG PVS1 PS4 PM2 PP3 PP5; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.607_608delinsTA r.(?) p.(Arg203*) - pathogenic g.108366733_108366734delinsTA g.105604452_105604453delinsTA - - FKTN_000015 - PubMed: Kobayashi 2001 - - Germline - - - - - Johan den Dunnen
-/., -/? 10 6 c.608G>A r.(?) p.(Arg203Gln) - benign g.108366734G>A g.105604453G>A FKTN(NM_001079802.1):c.608G>A (p.R203Q), FKTN(NM_006731.2):c.608G>A (p.R203Q) - FKTN_000007 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Cao 2001, PubMed: Godfrey 2007, PubMed: Kobayashi 2001, 1 more item - rs34787999 CLASSIFICATION record, Germline, Unknown - 9/20 - - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 6 c.626G>A r.(?) p.(Arg209His) - VUS g.108366752G>A g.105604471G>A - - FKTN_000109 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/., ?/. 3 6 c.642dup r.(?) p.(Asp215*) - likely pathogenic, pathogenic, VUS g.108366768dup g.105604487dup 642dupT - FKTN_000024, FKTN_000067 - from website {DBsub-Emory} - - Germline, Unknown - - - - - Madhuri Hegde, Tom Winder, Tom Winder
-?/. 2 - c.647+12G>A r.(=) p.(=) - likely benign g.108366785G>A g.105604504G>A FKTN(NM_001079802.1):c.647+12G>A, FKTN(NM_006731.2):c.647+12G>A - FKTN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 5 6i c.648-1243G>T r.647_648ins648-1312_648-1249, r.647_648ins648-1312_648-1250, r.647_648ins648-1312_648-1251, 2 more items p.(del) - pathogenic g.108368857G>T g.105606576G>T 647+2084G>T - FKTN_000049 not in 192 control chromosomes PubMed: Lim 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.658C>T r.(?) p.(Gln220Ter) - VUS g.108370110C>T g.105607829C>T FKTN(NM_001079802.1):c.658C>T (p.(Gln220Ter)) - FKTN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.668C>T r.(?) p.(Thr223Ile) - likely benign g.108370120C>T g.105607839C>T FKTN(NM_006731.2):c.668C>T (p.T223I) - FKTN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.676G>A r.(?) p.(Gly226Arg) - VUS g.108370128G>A g.105607847G>A FKTN(NM_001351502.1):c.280G>A (p.G94R) - FKTN_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.681G>A r.(?) p.(Leu227=) - likely benign g.108370133G>A g.105607852G>A FKTN(NM_001079802.1):c.681G>A (p.L227=) - FKTN_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 7 c.703C>A r.(?) p.(Pro235Thr) - likely benign, VUS g.108370155C>A g.105607874C>A FKTN(NM_001351502.2):c.307C>A (p.P103T), FKTN(NM_006731.2):c.703C>A (p.P235T) - FKTN_000110 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 7 c.706A>G r.(?) p.(Met236Val) - VUS g.108370158A>G g.105607877A>G - - FKTN_000111 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 7 c.736A>G r.(?) p.(Arg246Gly) - pathogenic g.108370188A>G g.105607907A>G - - FKTN_000042 - PubMed: Vuillaumier-Barrot 2009 - - Germline - - - - - Rosário dos Santos
+/. 2 7 c.748T>G r.(?) p.(Cys250Gly) - pathogenic g.108370200T>G g.105607919T>G - - FKTN_000004 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 158-201-151-197 PubMed: Kondo-Iida 1999, PubMed: Matsumoto 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 7 c.757A>G r.(?) p.(Lys253Glu) - VUS g.108370209A>G g.105607928A>G - - FKTN_000112 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.766C>A r.(?) p.(Arg256=) - likely benign g.108370218C>A g.105607937C>A - - FKTN_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 7 c.770C>T r.(?) p.(Ala257Val) - VUS g.108370222C>T g.105607941C>T - - FKTN_000113 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 7i c.780+2T>A r.spl? p.? - pathogenic (recessive) g.108370234T>A - - - FKTN_000147 - Luce 2021, submitted - - Unknown - - - - - Florencia Giliberto
-?/. 1 - c.787C>T r.(?) p.(Leu263Phe) - likely benign g.108377565C>T g.105615284C>T FKTN(NM_001079802.1):c.787C>T (p.L263F) - FKTN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.788T>G r.(?) p.(Leu263Arg) - likely benign g.108377566T>G g.105615285T>G - - FKTN_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.802G>T r.(?) p.(Val268Leu) - likely benign g.108377580G>T g.105615299G>T FKTN(NM_001079802.1):c.802G>T (p.V268L) - FKTN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 8 c.818T>C r.(?) p.(Phe273Ser) - VUS g.108377596T>C g.105615315T>C - - FKTN_000045 - - - - Germline - - - - - Tom Winder
?/. 1 8 c.820C>T r.(?) p.(Arg274Trp) - VUS g.108377598C>T g.105615317C>T - - FKTN_000114 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.821G>A r.(?) p.(Arg274Gln) - VUS g.108377599G>A g.105615318G>A FKTN(NM_001079802.1):c.821G>A (p.R274Q) - FKTN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.837A>G r.(?) p.(Glu279=) - likely benign g.108377615A>G g.105615334A>G FKTN(NM_006731.2):c.837A>G (p.E279=) - FKTN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 8 c.842T>C r.(?) p.(Leu281Pro) - pathogenic g.108377620T>C g.105615339T>C - - FKTN_000054 not in 108 control chromosomes PubMed: Yis 2010 - - Germline - - HpyCH4V - - Johan den Dunnen
?/. 1 8 c.854C>T r.(?) p.(Ala285Val) - VUS g.108377632C>T g.105615351C>T - - FKTN_000047 - - - - Germline - - - - - Tom Winder
+/. 2 8 c.859del r.(?) p.(Thr287Hisfs*2) - pathogenic g.108377637del g.105615356del - - FKTN_000029 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.906T>A r.(?) p.(Cys302*) - pathogenic g.108377684T>A g.105615403T>A - - FKTN_000005 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 126-200-149-183 PubMed: Kondo-Iida 1999 - - Germline - - - - - Johan den Dunnen
-/., -/?, ?/. 4 8i c.910+14G>A r.(=), r.(?) p.(=) - benign, VUS g.108377702G>A g.105615421G>A FKTN(NM_001079802.1):c.910+14G>A, FKTN(NM_006731.2):c.910+14G>A - FKTN_000034 other pathogenic change in several patients, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 8i c.911-244A>G r.(?) p.(=) - VUS g.108379996A>G g.105617715A>G chr9:108379996A>G - FKTN_000089 - PubMed: Lim 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 8i c.911-24_911-23ins(1200) r.[781_1044del, 781_910del, 781_1172del] p.[Gln261_Lys348del, Gln261Aspfs*17, Gln261Ilefs*12] - pathogenic g.? - - - FKTN_000013 1.2 Kb L1-insertion; haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 128-196-159-183 PubMed: Kondo-Iida 1999, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.911-13A>G r.(=) p.(=) - VUS g.108380227A>G g.105617946A>G FKTN(NM_001351502.2):c.515-13A>G - FKTN_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.911-8_911-6del r.(=) p.(=) - likely benign g.108380232_108380234del g.105617951_105617953del FKTN(NM_006731.2):c.911-8_911-6delCTT - FKTN_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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