Unique variants in gene FKRP

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_024301.4 transcript reference sequence.

235 entries on 3 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     
-/. 16 1 c.-621C>G r.(=) p.(=) - benign g.47248979C>G - - - FKRP_000033 control chromosomes PubMed: Walter, PubMed: Frosk, PubMed: Walter - - Germline - 41/84 BfaI- - - Rolf Stucka
?/., -?/. 2 _1 c.-304G>C r.(=), r.(?) p.(=) - VUS, likely benign g.47249296G>C g.46746039G>C - - FKRP_000171 VKGL data sharing initiative Nederland - - rs12984041 Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Nijmegen
?/. 1 - c.-302C>A r.(?) p.(=) - VUS g.47249298C>A - - - STRN4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-253+17_-253+26dup r.(=) p.(=) - likely benign g.47249364_47249373dup - FKRP(NM_001039885.2):c.-305+4_-305+5insGGCCGGGCCG (p.(=)) - FKRP_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.-253+22_-253+26del r.(=) p.(=) - likely benign g.47249369_47249373del - FKRP(NM_001039885.3):c.-305+22_-305+26delCCGGG - FKRP_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
?/., -?/. 2 1i c.-253+22_-253+26dup r.(?), r.(=) p.(=) - VUS, likely benign g.47249369_47249373dup g.46746112_46746116dup STRN4(NM_001039877.1):c.282+54_282+55insCGGCC (p.?) - FKRP_000162 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Leiden
?/. 1 - c.-253+298_-253+300dup r.(=) p.(=) - VUS g.47249645_47249647dup - STRN4(NM_001039877.1):c.49_50insCCT (p.?) - FKRP_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 3 c.-190-84C>T r.(?) p.(=) - benign g.47251688C>T - - - FKRP_000049 - rs1644332 - - Germline - - - - - Johan den Dunnen
-/. 1 3 c.-44C>T r.(?) p.(=) - benign g.47251918C>T - - - FKRP_000046 - rs1693995 - - Germline - 0.01 - - - Johan den Dunnen
-?/. 1 - c.-40+8C>G r.(=) p.(=) - likely benign g.47251930C>G - FKRP(NM_001039885.2):c.-84C>G (p.(=)) - FKRP_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 4 4 c.-34C>T r.-34c>u, r.(?) p.=, p.(=) - benign g.47258674C>T g.46755417C>T - - FKRP_000008 VKGL data sharing initiative Nederland PubMed: Brockington 2001, from website {DBsub-Emory} - rs16980701 Germline, Unknown, CLASSIFICATION record - 0.25 - - - Johan den Dunnen, Andreas Laner, Madhuri Hegde, VKGL-NL_Nijmegen
+/., ?/. 11 1_4 c.? r.? p.? - pathogenic (recessive), VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - Ieke Ginjaar, Johan den Dunnen
+/. 6 4 c.1A>G r.(?) p.0? - pathogenic, pathogenic (recessive) g.47258708A>G - Met1Val - FKRP_000034 no second variant, homozygosity mapping PubMed: Nallamilli 2018, PubMed: Mercuri, PubMed: VanReeuwijk 2010 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen
+/. 1 4 c.3G>T r.(?) p.0? - pathogenic (recessive) g.47258710G>T - - - FKRP_000065 - Yamamoto WMS2005 G.P.2.08 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 4 c.11C>G r.(?) p.(Thr4Ser) - likely benign, VUS g.47258718C>G - FKRP(NM_001039885.2):c.11C>G (p.T4S) - FKRP_000175 VKGL data sharing initiative Nederland, no second variant PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Madhuri Hegde
?/. 1 4 c.43A>C r.(?) p.(Thr15Pro) - VUS g.47258750A>C - - - FKRP_000194 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.54T>A r.(?) p.(=) - VUS g.47258761T>A - - - FKRP_000195 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 4 c.63C>A r.(?) p.(=) - benign g.47258770C>A - - - FKRP_000020 - PubMed: Brockington 2001 - - Germline - - - - - Johan den Dunnen
-/. 1 4 c.63C>T r.(?) p.(=) - benign g.47258770C>T - - - FKRP_000094 - - - - Germline - - - - - Ieke Ginjaar
+?/. 1 - c.74C>A r.(?) p.(Ser25*) - likely pathogenic (recessive) g.47258781C>A g.46755524C>A - - FKRP_000248 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
+?/. 1 - c.76_77del r.(?) p.(Trp26Alafs*6) - likely pathogenic (recessive) g.47258783_47258784del g.46755526_46755527del - - FKRP_000249 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
?/., -?/. 3 4 c.82C>G r.(?) p.(Gln28Glu) - VUS, likely benign g.47258789C>G - FKRP(NM_001039885.2):c.82C>G (p.(Gln28Glu)) - FKRP_000176 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 4 c.85C>T r.(?) p.(His29Tyr) - VUS g.47258792C>T - - - FKRP_000196 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.114G>T r.(?) p.(=) - benign g.47258821G>T - FKRP(NM_001039885.3):c.114G>T (p.G38=) - FKRP_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., +/., -?/-? 11 4 c.135C>T r.(?), r.135c>u p.(=), p.= - benign, pathogenic (recessive), likely benign g.47258842C>T g.46755585C>T FKRP(NM_001039885.2):c.135C>T (p.A45=), FKRP(NM_001039885.3):c.135C>T (p.A45=) - FKRP_000021 in controls and LGMD patients, VKGL data sharing initiative Nederland, 1 more item PubMed: de Paula 2003, PubMed: Brockington 2001, Yamamoto WMS2005 G.P.2.08, PubMed: Frosk, 1 more item - rs2287717 Germline, CLASSIFICATION record, Unknown - 0.09 NgoMIV- - - Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Rotterdam, Andreas Laner, VKGL-NL_Nijmegen, Madhuri Hegde, Vikki Stefans
+?/. 1 - c.137del r.(?) p.(Gly46Alafs*22) - likely pathogenic g.47258844del - FKRP(NM_001039885.3):c.137delG (p.G46Afs*22) - FKRP_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 4 c.143G>C r.(?) p.(Arg48Pro) - VUS g.47258850G>C g.46755593G>C - - FKRP_000172 - PubMed: Navarro-Cobos 2017 - - Germline ? - - - - Miguel Angel Alcántara-Ortigoza
?/. 1 4 c.151G>A r.(?) p.(Val51Ile) - VUS g.47258858G>A - - - FKRP_000197 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 4 c.154_158dup r.(?) p.(Arg54Trpfs*14) - pathogenic (recessive) g.47258861_47258865dup - - - FKRP_000035 - PubMed: Mercuri - - Germline - - - - - Johan den Dunnen
?/. 2 4 c.155T>A r.(?) p.(Leu52Gln) - VUS g.47258862T>A - - - FKRP_000141 - - - - Germline - - - - - Tom Winder
+/., +?/. 4 4 c.158_162dup r.(?) p.(Glu55Cysfs*15) - pathogenic (recessive), likely pathogenic (recessive) g.47258865_47258869dup - 158_162dupTGCGG - FKRP_000039 - Sveen WMS2005 L.P.3.06 - - Germline - - - - - Marianne Schwartz, Akanchha Kesari, Tom Winder
+/. 3 4 c.160C>T r.(?) p.(Arg54Trp) - pathogenic, pathogenic (recessive) g.47258867C>T - - - FKRP_000084 VKGL data sharing initiative Nederland PubMed: Harel 2004, OMIM:var0011 - rs28937905 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Johan den Dunnen
+/. 3 4 c.162_165dup r.(?) p.(Phe56Glyfs*6) - pathogenic (recessive) g.47258869_47258872dup - 162_165dupGGAG - FKRP_000013 - PubMed: Brockington, PubMed: Mercuri, PubMed: Torelli 2005, PubMed: Peat 2008 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 3 4 c.163G>C r.(?) p.(Glu55Gln) - pathogenic (recessive) g.47258870G>C - E55Q - FKRP_000091 - PubMed: Wahbi 2008, Freixas ESHG2006 P0925 - - Germline - - - - - Johan den Dunnen
?/. 2 4 c.169G>A r.(?) p.(Glu57Lys), p.Glu57Lys ACMG VUS g.47258876G>A - - - FKRP_000191 no second variant PubMed: Nallamilli 2018 - rs773024545 Germline - - - - - Madhuri Hegde, Andreas Laner
-/., ?/. 6 4 c.192C>T r.(?) p.(=) - benign, VUS g.47258899C>T - FKRP(NM_001039885.2):c.192C>T (p.P64=), FKRP(NM_001039885.3):c.192C>T (p.P64=) - FKRP_000088 VKGL data sharing initiative Nederland PubMed: de Paula 2003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Rotterdam, Akanchha Kesari
-/. 1 4 c.201A>G r.(?) p.(=) - benign g.47258908A>G - - - FKRP_000079 - PubMed: Boito 2005 - - Germline - - - - - Johan den Dunnen
-?/. 1 4 c.206C>A r.(?) p.(Ser69Tyr) - likely benign g.47258913C>A - - - FKRP_000123 not in 212 control chromosomes PubMed: Bouchet 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 4 c.211C>G r.(?) p.(Leu71Val) - benign g.47258918C>G - - - FKRP_000066 - Yamamoto WMS2005 G.P.2.08 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.214C>T r.(?) p.(Gln72*) - pathogenic (recessive) g.47258921C>T - - - FKRP_000138 - - - - Germline - - - - - Wolfram Kress
+/., -/. 8 4 c.235G>A r.(?) p.(Val79Met) - pathogenic (recessive), benign g.47258942G>A - FKRP(NM_001039885.3):c.235G>A (p.V79M) - FKRP_000063 VKGL data sharing initiative Nederland, recombined allele from mother PubMed: de Paula 2003, PubMed: Vieira 2006; PubMed: Yamamoto 2008, PubMed: Vieira 2006, 2 more items - - Germline, CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL_AMC, Madhuri Hegde, Tom Winder
+/. 2 4 c.242_244del r.(?) p.(Val81del) - pathogenic (recessive) g.47258949_47258951del - delTGG, 241_243delGTG - FKRP_000110 - PubMed: Wahbi 2008 - - Germline - - - - - Johan den Dunnen, Tom Winder
-/., -?/., ?/., +/. 8 4 c.249C>T r.(?) p.(=) - benign, likely benign, VUS, pathogenic (recessive) g.47258956C>T g.46755699C>T FKRP(NM_001039885.2):c.249C>T (p.A83=), FKRP(NM_001039885.3):c.249C>T (p.A83=) - FKRP_000022 VKGL data sharing initiative Nederland, not in 104 normal chromosomes PubMed: Brockington 2001, PubMed: de Paula 2003, Yamamoto WMS2005 G.P.2.08, from website {DBsub-Emory} - - Germline, CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Rotterdam, Andreas Laner, Madhuri Hegde
+/. 1 - c.253+2T>C r.spl p.? ACMG pathogenic g.47258962T>C - - - FKRP_000187 ACMG: 5 (PVS1, PM2, PM3); additional variants in PLEC x2, LARGE, KBTBD13, DCTN1, MYPN, TTN x2 PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 4 c.265C>G r.(?) p.(Pro89Ala) - pathogenic (recessive), VUS g.47258972C>G - - - FKRP_000115 - PubMed: Vieira 2006, PubMed: de Paula 2003, PubMed: Vieira 2006; PubMed: Yamamoto 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.266C>G r.(?) p.(Pro89Arg) - pathogenic (recessive) g.47258973C>G - - - FKRP_000057 not in 100 control chromosomes PubMed: Matsumoto 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.266C>T r.(?) p.(Pro89Leu) - pathogenic (recessive) g.47258973C>T - P89L - FKRP_000040 - PubMed: Wahbi 2008, PubMed: Quijano-Roy 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.275C>G r.(?) p.(Ala92Gly) - pathogenic (recessive) g.47258982C>G - - - FKRP_000067 not in 104 normal chromosomes Yamamoto WMS2005 G.P.2.08 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 4 c.278T>C r.(?) p.(Leu93Pro) ACMG pathogenic (recessive), likely pathogenic g.47258985T>C - L93P - FKRP_000055 ACMG: 4 (PM2, PM3, PP2, PP3); additional variants in CAPN3, DMD, NEB, SYNE1 x2, CCDC78, TTN x4 PubMed: Wahbi 2008, PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen, Lab Müller-Reible
+/. 1 4 c.280C>T r.(?) p.(Pro94Ser) - pathogenic (recessive) g.47258987C>T - Pro104Ser - FKRP_000121 not in 320 control chromosomes PubMed: Guglieri 2007 - - Germline - - - - - Johan den Dunnen
?/. 1 4 c.283C>T r.(?) p.(Arg95Cys) - VUS g.47258990C>T - - - FKRP_000113 father carrier PubMed: Yis 2010 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.306G>A r.(?) p.(=) - likely benign g.47259013G>A - FKRP(NM_001039885.2):c.306G>A (p.A102=) - FKRP_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 4 c.313C>T r.(?) p.(Gln105*) - pathogenic, pathogenic (recessive) g.47259020C>T - - - FKRP_000064 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
?/. 2 4 c.319G>T r.(?) p.(Ala107Ser) - VUS g.47259026G>T - - - FKRP_000198 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 4 c.328C>T r.(?) p.(Arg110Trp) - pathogenic (recessive) g.47259035C>T - - - FKRP_000125 - PubMed: Kang 2007 - - Germline - - - - - Rosário dos Santos
+/. 4 4 c.329G>C r.(?) p.(Arg110Pro) - pathogenic (recessive) g.47259036G>C - - - FKRP_000103 - PubMed: Quijano-Roy 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.336C>G r.(?) p.(=) - benign g.47259043C>G - FKRP(NM_001039885.3):c.336C>G (p.A112=) - FKRP_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., -/., +/., -?/. 37 4 c.(341C>G), c.341C>G r.(?) p.(Ala114Gly) - VUS, benign, pathogenic (recessive), likely benign g.47259048C>G g.46755791C>G 1 more item - FKRP_000016 VKGL data sharing initiative Nederland, unknown variant 2nd chromosome PubMed: Brockington 2001, PubMed: Driss, PubMed: Driss, PubMed: Driss, PubMed: Boito 2005, 9 more items - - Germline, CLASSIFICATION record, Germline/De novo (untested), Unknown - 1/100, 4/170, 2/212, 1/94 cases, 2/104 - - - Johan den Dunnen, Lab Müller-Reible, Ieke Ginjaar, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Akanchha Kesari, Rosário dos Santos, VKGL-NL_Nijmegen, Madhuri Hegde, Gerard C.P. Schaafsma, VKGL-NL_Leiden
?/. 2 4 c.344C>T r.(?) p.(Ser115Leu) - VUS g.47259051C>T - - - FKRP_000122 not in 100 control chromosomes, no second variant Cittadella ESHG2008 P01.204, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
-/. 1 - c.360C>T r.(?) p.(=) - benign g.47259067C>T - FKRP(NM_001039885.3):c.360C>T (p.Y120=) - FKRP_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 4 c.362T>A r.(?) p.(Val121Glu) - pathogenic (recessive) g.47259069T>A - - - FKRP_000028 - PubMed: Walter - - Germline - - - - - Rolf Stucka
+/., ?/. 4 4 c.374T>C r.(?) p.(Phe125Ser) - pathogenic (recessive), VUS g.47259081T>C - - - FKRP_000058 - PubMed: Nallamilli 2018 - - Germline - - - - - Lab Müller-Reible, Tom Winder, Madhuri Hegde
?/. 2 4 c.385G>C r.(?) p.(Val129Leu) - VUS g.47259092G>C - - - FKRP_000199 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 4 c.387_390dup r.(?) p.(Asp131Thrfs*2), p.(?) - pathogenic (recessive) g.47259094_47259097dup - 386_389dup, 390dupACCG - FKRP_000003 - PubMed: Brockington, PubMed: Mercuri, OMIM:var0005 - - Germline - - - - - Johan den Dunnen, Lab Müller-Reible
?/. 1 4 c.395G>A r.(?) p.(Gly132Glu) - VUS g.47259102G>A - - - FKRP_000200 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 4 c.400C>T r.(?) p.(Arg134Trp) - pathogenic (recessive) g.47259107C>T - - - FKRP_000085 not in 200 control chromosomes PubMed: de Paula 2003; PubMed: Yamamoto 2008, OMIM:var0014 - - Germline - - - - - Johan den Dunnen
?/. 1 4 c.401G>C r.(?) p.(Arg134Pro) - VUS g.47259108G>C - - - FKRP_000201 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.414T>A r.(?) p.(=) - benign g.47259121T>A - FKRP(NM_001039885.3):c.414T>A (p.P138=) - FKRP_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., -/., -?/., ?/. 26 4 c.427C>A r.(?) p.(Arg143Ser) - pathogenic (recessive), benign, likely benign, VUS g.47259134C>A g.46755877C>A 1 more item - FKRP_000007 VKGL data sharing initiative Nederland, not in 200 control chromosomes, unknown variant 2nd chromosome, 2 more items PubMed: Guglieri 2007, PubMed: Brockington, PubMed: Boito 2005, PubMed: Kesari 2008, 5 more items - rs148206382 Germline, CLASSIFICATION record, Unknown ? 1/120 chromosomes NMD cases - - - Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Leiden, Akanchha Kesari, VKGL-NL_Rotterdam, Ieke Ginjaar, Miguel Angel Alcántara-Ortigoza, Madhuri Hegde, Tom Winder, VKGL-NL_Groningen
+/. 1 4 c.427_438del r.(?) p.(Arg143_Glu146del) - pathogenic (recessive) g.47259134_47259145del - 426_437del - FKRP_000006 - PubMed: Brockington, PubMed: Mercuri - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.430A>G r.(?) p.(Met144Val) - pathogenic (recessive) g.47259137A>G - - - FKRP_000111 - - - - Germline - - - - - Tom Winder
+/. 1 4 c.437A>C r.(?) p.(Glu146Ala) - pathogenic (recessive) g.47259144A>C - - - FKRP_000129 - PubMed: Manzini 2008 - - Germline - - - - - Rosário dos Santos
?/. 1 - c.446G>A r.(?) p.(Arg149His) - VUS g.47259153G>A - FKRP(NM_001039885.2):c.446G>A (p.R149H) - FKRP_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 9 4 c.456C>G r.(?) p.(Ser152Arg) - likely benign, VUS g.47259163C>G - 1 more item - FKRP_000095 VKGL data sharing initiative Nederland, no second variant PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Madhuri Hegde, Ieke Ginjaar, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Leiden
?/. 2 4 c.466G>A r.(?) p.(Val156Met) - VUS g.47259173G>A - FKRP(NM_001039885.3):c.466G>A (p.V156M) - FKRP_000202 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_AMC
+/. 2 4 c.469G>C r.(?) p.(Ala157Pro) - pathogenic (recessive) g.47259176G>C - - - FKRP_000083 - Sveen WMS2005 L.P.3.06 - - Germline - - - - - Marianne Schwartz, Tom Winder
+/. 4 4 c.478G>T r.(?) p.(Val160Phe) - pathogenic (recessive) g.47259185G>T - - - FKRP_000078 - PubMed: de Paula 2003; PubMed: Yamamoto 2008, PubMed: Boito 2005, PubMed: Guglieri 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.496G>T r.(?) p.(Ala166Ser) - pathogenic (recessive) g.47259203G>T - - - FKRP_000068 not in 104 normal chromosomes Yamamoto WMS2005 G.P.2.08 - - Germline - - - - - Johan den Dunnen
-?/. 1 4 c.499A>G r.(?) p.(Arg167Gly) - likely benign g.47259206A>G - - - FKRP_000127 - - - - Germline - - - - - Lab Müller-Reible
-/., +/., ?/., -?/. 6 4 c.520A>T r.(?) p.(Ser174Cys) - benign, pathogenic (recessive), VUS, likely benign g.47259227A>T - FKRP(NM_001039885.2):c.520A>T (p.S174C), FKRP(NM_001039885.3):c.520A>T (p.S174C) - FKRP_000105 VKGL data sharing initiative Nederland PubMed: Quijano-Roy 2006 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Johan den Dunnen, Tom Winder, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
?/. 2 4 c.531G>A r.(?) p.(=) - VUS g.47259238G>A - - - FKRP_000203 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 4 c.535A>C r.(?) p.(Thr179Pro) - pathogenic (recessive) g.47259242A>C - - - FKRP_000133 - ten Dam, submitted 2019 - - Germline - - - - - Ieke Ginjaar
+/. 11 4 c.545A>G r.(?) p.(Tyr182Cys) - pathogenic (recessive), pathogenic g.47259252A>G g.46755995A>G Y182C - FKRP_000086 not in 200 control chromosomes PubMed: Yu 2017, PubMed: de Paula 2003; PubMed: Yamamoto 2008, PubMed: Wahbi 2008, 1 more item - - Germline - - - - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde
?/., -/. 3 4 c.567C>T r.(?) p.(=) - VUS, benign g.47259274C>T - FKRP(NM_001039885.3):c.567C>T (p.P189=) - FKRP_000090 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018, PubMed: de Paula 2003 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_AMC, Johan den Dunnen
?/. 1 4 c.581T>A r.(?) p.(Leu194Gln) - VUS g.47259288T>A - - - FKRP_000157 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-/., +/., -?/., ?/. 7 4 c.585C>T r.(?) p.(=) - benign, pathogenic (recessive), likely benign, VUS g.47259292C>T - FKRP(NM_001039885.2):c.585C>T (p.D195=), FKRP(NM_001039885.3):c.585C>T (p.D195=) - FKRP_000069 VKGL data sharing initiative Nederland, not in 104 normal chromosomes, in controls and LGMD patients Yamamoto WMS2005 G.P.2.08, PubMed: de Paula 2003, from website {DBsub-Emory} - - CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_AMC, Johan den Dunnen, Ieke Ginjaar, VKGL-NL_Rotterdam, Madhuri Hegde, Tom Winder
+?/. 1 4 c.586G>A r.? p.(Gly196Arg) - likely pathogenic (recessive) g.47259293G>A - - - FKRP_000146 - - - - Germline - - - - - Tom Winder
?/., +/., +?/. 5 4 c.586G>C r.(?) p.(Gly196Arg) - VUS, pathogenic (recessive), likely pathogenic (recessive) g.47259293G>C - - - FKRP_000061 - PubMed: Nallamilli 2018, PubMed: Kesari 2008 - - Germline - - - - - Madhuri Hegde, Lab Müller-Reible, Akanchha Kesari, Tom Winder
+/. 1 4 c.605T>A r.(?) p.(Leu202Gln) - pathogenic (recessive) g.47259312T>A - - - FKRP_000042 - Sveen WMS2005 L.P.3.06 - - Germline - - - - - Marianne Schwartz
-/. 1 4 c.606G>A r.(?) p.(=) - benign g.47259313G>A - - - FKRP_000089 - PubMed: de Paula 2003 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 4 c.613C>G r.(?) p.(Arg205Gly) - likely benign, VUS g.47259320C>G - FKRP(NM_001039885.2):c.613C>G (p.R205G) - FKRP_000149 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Madhuri Hegde
?/. 2 4 c.632C>T r.(?) p.(Ser211Leu) - VUS g.47259339C>T - - - FKRP_000137 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Tom Winder, Madhuri Hegde
?/. 1 4 c.636G>A r.(?) p.(=) - VUS g.47259343G>A - - - FKRP_000096 - - - - Germline - - - - - Ieke Ginjaar
+/. 1 4 c.638C>T r.(?) p.(Pro213Leu) - pathogenic (recessive) g.47259345C>T - - - FKRP_000071 - - - - Germline - - - - - Lab Müller-Reible
-/. 1 4 c.648G>A r.(?) p.(=) - benign g.47259355G>A - - - FKRP_000023 - PubMed: Brockington 2001 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.649C>A r.(?) p.(Pro217Thr) - pathogenic (recessive) g.47259356C>A - - - FKRP_000014 - PubMed: Brockington 2001, PubMed: Quijano-Roy 2006 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.650C>A r.(?) p.(Pro217Gln) ACMG likely pathogenic g.47259357C>A - - - FKRP_000188 ACMG: 4 (PM2, PM5, PP2, PP3); additional variants in TCAP, COL6A2, TTN x2 PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.650_667del r.(?) p.(Pro217_Phe223delinsLeu) ACMG likely pathogenic g.47259357_47259374del - 650-667delCGCCCGCTATGTGGTGGG - FKRP_000189 ACMG: 4 (PM1, PM2, PM3, PP2); additional variants in COL6A3, COL4A1, NEB x2, TTN PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 4 c.654G>A r.(?) p.(=) - benign g.47259361G>A - - - FKRP_000024 - PubMed: Brockington 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.661dup r.(?) p.(Ser221Lysfs*38) - pathogenic (recessive) g.47259368dup - 661dupA - FKRP_000108 - - - - Germline - - - - - Tom Winder
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