Full data view for gene FKTN

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.

434 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-88-6T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/? 3 c.-45G>T r.(?) p.(=) Unknown - benign g.108337269G>T g.105574988G>T - - FKTN_000057 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.-7C>G r.(?) p.(=) Parent #1 - VUS g.108337307C>G g.105575026C>G - - FKTN_000094 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.21C>T r.(?) p.(=) Parent #1 - VUS g.108337334C>T g.105575053C>T - - FKTN_000095 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.21C>T r.(?) p.(Asn7=) Unknown - likely benign g.108337334C>T g.105575053C>T FKTN(NM_001351496.1):c.21C>T (p.N7=) - FKTN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22G>A r.(?) p.(Val8Met) Both (homozygous) - VUS g.108337335G>A g.105575054G>A - - FKTN_000093 - PubMed: Papuc 2019 - rs368981218 Germline - - - 0 - DNA SEQ-NG-I - - EIEE 70757 - - F no ? (unknown) - - 0 - - 1 Anaïs Begemann
?/. - c.22G>T r.(?) p.(Val8Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.22G>T r.(?) p.(Val8Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.41C>T r.(?) p.(Thr14Met) Unknown - VUS g.108337354C>T g.105575073C>T - - FKTN_000058 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.41C>T r.(?) p.(Thr14Met) Parent #1 - VUS g.108337354C>T g.105575073C>T - - FKTN_000058 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.41C>T r.(?) p.(Thr14Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.42del r.(?) p.(Leu15*) Parent #1 - pathogenic g.108337355del g.105575074del 42delG - FKTN_000092 - PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat42 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
-/. - c.42G>A r.(?) p.(Thr14=) Unknown - benign g.108337355G>A g.105575074G>A FKTN(NM_001079802.1):c.42G>A (p.T14=, p.(Thr14=)) - FKTN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.42G>A r.(?) p.(Thr14=) Unknown - benign g.108337355G>A g.105575074G>A FKTN(NM_001079802.1):c.42G>A (p.T14=, p.(Thr14=)) - FKTN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.42G>A r.(?) p.(Thr14=) Unknown - likely benign g.108337355G>A g.105575074G>A FKTN(NM_001079802.1):c.42G>A (p.T14=, p.(Thr14=)) - FKTN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3 c.42G>A r.(?) p.(=) Unknown - benign g.108337355G>A g.105575074G>A - - FKTN_000059 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 3 c.49A>C r.(?) p.(Ser17Arg) Maternal (confirmed) ACMG likely pathogenic (recessive) g.108337362A>C g.105575081A>C - - FKTN_000152 - - - - Germline - - - 0 - DNA SEQ-NG - - MDDGA Case 18 - - F no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
+?/. - c.49A>C r.(?) p.(Ser17Arg) Maternal (confirmed) ACMG likely pathogenic g.108337362A>C g.105575081A>C - - FKTN_000152 - - - - Germline - - - 0 - DNA SEQ-NG - - MDDGC Case 21 - - M no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
+/. - c.49A>C r.(?) p.(Ser17Arg) Parent #2 - pathogenic (recessive) g.108337362A>C g.105575081A>C - - FKTN_000152 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat130 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. 3 c.49A>C r.(?) p.(Ser17Arg) Unknown ACMG likely pathogenic g.108337362A>C - - - FKTN_000152 - - - - Germline - - - 0 - DNA PCR - - MDDGA Case 19 - - F no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
+/. - c.62T>A r.(?) p.(Leu21Gln) Parent #1 - pathogenic (recessive) g.108337375T>A g.105575094T>A - - FKTN_000155 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat127 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
-?/. - c.63G>C r.(?) p.(Leu21=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.105+36_105+39del r.(?) p.(=) Unknown - VUS g.108337454_108337457del g.105575173_105575176del 105+36_105+39delTCTT - FKTN_000060 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/? 3i c.106-40A>G r.(?) p.(=) Unknown - benign g.108358839A>G g.105596558A>G - - FKTN_000061 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.106-10G>A r.(=) p.(=) Unknown - benign g.108358869G>A g.105596588G>A FKTN(NM_001079802.1):c.106-10G>A (, p.(=)) - FKTN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.106-10G>A r.(=) p.(=) Unknown - benign g.108358869G>A g.105596588G>A FKTN(NM_001079802.1):c.106-10G>A (, p.(=)) - FKTN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.106-10G>A r.(=) p.(=) Unknown - likely benign g.108358869G>A g.105596588G>A FKTN(NM_001079802.1):c.106-10G>A (, p.(=)) - FKTN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3i c.106-10G>A r.(?) p.(=) Unknown - benign g.108358869G>A g.105596588G>A - - FKTN_000062 - from website {DBsub-Emory} - - Unknown - Germline - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #2 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Kobayashi 2001 - - Germline - - - 0 - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 3 affecteds - - Japan - - 0 - - 3 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #2 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Matsumoto 2005 - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Matsumoto 2005 3 affecteds - - Japan - - 0 - - 3 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Maternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #2 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Vuillaumier-Barrot 2009 - - Germline - - - 0 - DNA SEQ - - LGMD 19179078.4 PubMed: Vuillaumier-Barrot 2009 - M - France white >7y 0 - - 1 Rosário dos Santos
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Maternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Maternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T 250C>T - FKTN_000002 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0002 - - Germline - - AluI+ 0 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Paternal (confirmed) - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Yis 2010 - - Germline - - - 0 - DNA SEQ - - WWS 20961758-Pat1 PubMed: Yis 2010 - F - Greece;Croatia (Hrvatska) - - 0 - - 2 Johan den Dunnen
+/. 4 c.139C>T r.(?) p.(Arg47*) Parent #1 - pathogenic g.108358912C>T g.105596631C>T - - FKTN_000002 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.139C>T r.(?) p.(Arg47Ter) Parent #1 - pathogenic (recessive) g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat123 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.139C>T r.(?) p.(Arg47Ter) Parent #1 - pathogenic (recessive) g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat124 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.139C>T r.(?) p.(Arg47Ter) Parent #1 - pathogenic (recessive) g.108358912C>T g.105596631C>T - - FKTN_000002 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat126 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
?/. 4 c.143T>C r.(?) p.(Ile48Thr) Parent #1 - VUS g.108358916T>C g.105596635T>C - - FKTN_000096 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/? 4i c.165-6A>G r.(spl?) p.(?) Unknown - 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 - DNA SEQ - - Healthy/Control 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.165+1G>T r.spl? p.? Unknown - likely pathogenic g.108358939G>T - FKTN(NM_001351502.2):c.-350+1G>T - FKTN_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.165+6T>C r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.108358944T>C g.105596663T>C - - FKTN_000153 - - - - Germline - - - 0 - DNA SEQ-NG - - MDDGC Case 21 - - M no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
?/. 4i c.165+29A>G r.(?) p.(=) Unknown - VUS g.108358967A>G g.105596686A>G - - FKTN_000063 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. 4i c.165+835T>G r.(?) p.(=) Paternal (confirmed) - likely benign g.108359773T>G g.105597492T>G chr9:108359773T>G - FKTN_000091 - PubMed: Lim 2013 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDC 23453855-Pat4 PubMed: Lim 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Korea - - 0 - - 1 Johan den Dunnen
+/. - c.165+1427A>G r.spl p.? Unknown - 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 - DNA SEQ-NG - 58-gene panel CMD Pat147 PubMed: Nguyen 2021 - - - Viet Nam - - 0 - - 1 Johan den Dunnen
-?/. - c.165+1491G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.166-6A>G r.(=) p.(=) Unknown - benign g.108363420A>G g.105601139A>G FKTN(NM_001079802.1):c.166-6A>G (p.(=), ), FKTN(NM_006731.2):c.166-6A>G - FKTN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.166-6A>G r.(=) p.(=) Unknown - benign g.108363420A>G g.105601139A>G FKTN(NM_001079802.1):c.166-6A>G (p.(=), ), FKTN(NM_006731.2):c.166-6A>G - FKTN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.166-6A>G r.(=) p.(=) Unknown - likely benign g.108363420A>G g.105601139A>G FKTN(NM_001079802.1):c.166-6A>G (p.(=), ), FKTN(NM_006731.2):c.166-6A>G - FKTN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4i c.166-6A>G r.(?) p.(=) Unknown - VUS g.108363420A>G g.105601139A>G - - FKTN_000064 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 4i c.166-4A>G r.(?) p.(ins) Parent #1 - VUS g.108363422A>G g.105601141A>G - - FKTN_000046 predicted by in an silico model to create a new splice acceptor - - - Germline - - - 0 - DNA PCR, SEQ - - WWS ? - - - - United States - - 0 - - 1 Tom Winder
?/. 4i c.166-4A>G r.spl p.? Parent #1 - VUS g.108363422A>G g.105601141A>G - - FKTN_000046 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.166-4A>G r.spl? p.? Unknown - VUS g.108363422A>G g.105601141A>G FKTN(NM_006731.2):c.166-4A>G - FKTN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/? 5 c.166C>T r.(spl?) p.(Arg56Cys) Unknown - benign g.108363426C>T g.105601145C>T 165C>T (erroneous) - FKTN_000030 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 17878207.? PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys) Parent #1 - likely benign g.108363426C>T g.105601145C>T - - FKTN_000030 - PubMed: Bouchet 2007 - - Germline - - - 0 - DNA SEQ - - LIS ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - 1 Johan den Dunnen
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys) Parent #1 - likely benign g.108363426C>T g.105601145C>T - - FKTN_000030 - PubMed: Bouchet 2007 - - Germline - 7/214 - 0 - DNA SEQ - - Healthy/Control ? PubMed: Bouchet 2007 - - - France - - 0 - - 7 Johan den Dunnen
-/? 5 c.166C>T r.(?) p.(Arg56Cys) Unknown - benign g.108363426C>T g.105601145C>T - - FKTN_000030 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.166C>T r.(?) p.(Arg56Cys) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
?/. - c.166C>T r.(?) p.(Arg56Cys) Both (homozygous) - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.167G>A r.(?) p.(Arg56His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.167G>A r.(?) p.(Arg56His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 5 c.167G>A r.(?) p.(Arg56His) Unknown - VUS g.108363427G>A g.105601146G>A - - FKTN_000065 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.175_180del r.(?) p.(Lys59_Lys60del) Parent #2 - pathogenic (recessive) g.108363435_108363440del g.105601154_105601159del c.175-180del - FKTN_000156 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat128 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
-?/. - c.187A>G r.(?) p.(Met63Val) Unknown - likely benign g.108363447A>G - FKTN(NM_006731.2):c.187A>G (p.M63V) - FKTN_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.187_188del r.(?) p.(Met63Valfs*13) Maternal (confirmed) - 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 - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 father US (UK/German ancestry) F - Japan;United States white; Asian - 0 - - 1 Johan den Dunnen
-?/. - c.207T>C r.(?) p.(Asn69=) Unknown - likely benign g.108363467T>C g.105601186T>C FKTN(NM_001079802.1):c.207T>C (p.(Asn69=), p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=) - FKTN_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C r.(?) p.(Asn69=) Unknown - likely benign g.108363467T>C g.105601186T>C FKTN(NM_001079802.1):c.207T>C (p.(Asn69=), p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=) - FKTN_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207T>C r.(?) p.(Asn69=) Unknown - likely benign g.108363467T>C - FKTN(NM_001079802.1):c.207T>C (p.(Asn69=), p.N69=), FKTN(NM_006731.2):c.207T>C (p.N69=) - FKTN_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.218T>C r.(?) p.(Phe73Ser) Both (homozygous) - pathogenic (recessive) g.108363478T>C g.105601197T>C - - FKTN_000141 - PubMed: Makrythanasis 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Family_13 PubMed: Makrythanasis 2014 family, 3 affected - yes Egypt - - 0 - - 3 Johan den Dunnen
?/. - c.239T>C r.(?) p.(Leu80Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.266A>G r.(?) p.(Gln89Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277A>G r.(?) p.(Thr93Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.285T>C r.(?) p.(His95=) Unknown - likely benign g.108363545T>C - FKTN(NM_006731.2):c.285T>C (p.H95=) - FKTN_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.293C>T r.(?) p.(Thr98Ile) Parent #1 - VUS g.108363553C>T g.105601272C>T - - FKTN_000097 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5 c.296C>T r.(?) p.(Ser99Leu) Parent #1 - VUS g.108363556C>T g.105601275C>T - - FKTN_000098 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5 c.301T>C r.(?) p.(Cys101Arg) Parent #1 - VUS g.108363561T>C g.105601280T>C - - FKTN_000099 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 5 c.302G>T r.(?) p.(Cys101Phe) Unknown - pathogenic g.108363562G>T g.105601281G>T - - FKTN_000037 - PubMed: Arimura 2008 - - Germline - - - 0 - DNA SEQ - - CMD ? PubMed: Arimura 2008 - F - Japan - >19y 0 - - 1 Rosário dos Santos
+?/. - c.314G>A r.(?) p.(Cys105Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 4 c.314G>T r.(?) p.(Cys105Phe) Both (homozygous) - VUS g.108363574G>T g.105601293G>T - - FKTN_000056 - - - - Germline - - - 0 - DNA PCR, SEQ - - CMD ? - - M - Saudi Arabia Arab - 0 - - 1 Tom Winder
+?/. 4 c.314G>T r.(?) p.(Cys105Phe) Both (homozygous) - likely pathogenic g.108363574G>T g.105601293G>T - - FKTN_000056 - - - - Germline - - - 0 - DNA PCR, SEQ - - MD ? - - M - Saudi Arabia Arab - 0 - - 1 Tom Winder
+/. - c.314G>T r.(?) p.(Cys105Phe) Both (homozygous) 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 - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam22 / 10R-00973 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. 5 c.330dup r.(?) p.(Thr111Tyrfs*13) Parent #1 - pathogenic g.108363590dup g.105601309dup 330dupT - FKTN_000100 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 5 c.340G>A r.(?) p.(Ala114Thr) Paternal (confirmed) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Puckett 2009 - - Germline - - - 0 - DNA SEQ - - CMD 19342235.b PubMed: Puckett 2009 older brother of 07-141; mother Japanese, father Caucasian M no Japan;United States Asia;white - 0 - - 1 Tom Winder
+/. 5 c.340G>A r.(?) p.(Ala114Thr) Paternal (confirmed) - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Puckett 2009 - - Germline - - - 0 - DNA SEQ - - LGMD ? PubMed: Puckett 2009 younger brother of 19342235.b; mother Japanese, father Caucasian M no Japan;United States Asia;white - 0 - - 1 Tom Winder
+/. 5 c.340G>A r.(?) p.(Ala114Thr) Parent #1 - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - LGMD FamPat31a/Pat45 PubMed: Godfrey 2007, PubMed: O'Grady 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
+/. 5 c.340G>A r.(?) p.(Ala114Thr) Parent #1 - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - LGMD FamPat31b PubMed: Clement-Pat2, PubMed: Godfrey 2007 relative of FamPat31a ? - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.345_346delinsCT r.(?) p.(Gln116*) Parent #1 - pathogenic g.108363605_108363606delinsCT g.105601324_105601325delinsCT - - FKTN_000011 not in 210 control chromosomes (Netherlands, Turkey) PubMed: Beltran-Valero 2003, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - WWS Pat1 PubMed: Beltran-Valero 2003 first cousin parents M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 5 c.345_346delinsCT r.(?) p.(Gln116*) Parent #2 - pathogenic g.108363605_108363606delinsCT g.105601324_105601325delinsCT - - FKTN_000011 not in 210 control chromosomes (Netherlands, Turkey) PubMed: Beltran-Valero 2003, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - WWS Pat1 PubMed: Beltran-Valero 2003 first cousin parents M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 5 c.346C>T r.(?) p.(Gln116*) Parent #2 - pathogenic g.108363606C>T g.105601325C>T - - FKTN_000050 - PubMed: Lim 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20620061-P8 PubMed: Lim 2010 - M - Korea - >8y 0 - - 1 Johan den Dunnen
+/. - c.346C>T r.(?) p.(Gln116Ter) Parent #1 - pathogenic (recessive) g.108363606C>T g.105601325C>T - - FKTN_000050 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat125 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.346C>T r.(?) p.(Gln116*) Unknown ACMG pathogenic g.108363606C>T - - - FKTN_000050 - - - - Germline - - - 0 - DNA PCR - - MDDGA Case 20 - - M no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
-?/. - c.357A>G r.(?) p.(Leu119=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.366T>G r.(?) p.(Asn122Lys) Parent #1 - VUS g.108363626T>G g.105601345T>G - - FKTN_000101 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
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