Full data view for 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.

951 entries on 10 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     
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 1, 3 PubMed: Walter - F;M yes Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 1, 3 PubMed: Walter - F;M yes Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 4, 5, .. PubMed: Walter 8 cases families non-consanguineous parents F;M yes Germany - - 0 - - 8 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 4, 5, .. PubMed: Walter 8 cases families non-consanguineous parents F;M yes Germany - - 0 - - 8 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 6, 13 PubMed: Walter - F - Germany - - 0 - - 3 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 6, 13 PubMed: Walter - F - Germany - - 0 - - 3 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 2 PubMed: Walter - M - Croatia (Hrvatska) - - 0 - - 3 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 2 PubMed: Walter - M - Croatia (Hrvatska) - - 0 - - 3 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 control chromosomes PubMed: Walter, PubMed: Frosk - - Germline - 41/84 - 0 - DNA SEQ - - - ? PubMed: Walter, PubMed: Frosk - - - Germany - - 0 - - 41 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 15 PubMed: Walter - F - Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 14 PubMed: Walter - M - Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 17 PubMed: Walter - F - Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 18 PubMed: Walter - M - Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 19 PubMed: Walter - F - Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 20 PubMed: Walter - F - Germany - - 0 - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G - - - FKRP_000033 - PubMed: Walter - - Germline - - BfaI- 0 - DNA SEQ - - LGMD-2 16 PubMed: Walter - F - Germany - - 0 - - 1 Rolf Stucka
?/. _1 c.-304G>C r.(=) p.(=) Parent #1 - VUS g.47249296G>C g.46746039G>C - - FKRP_000171 - - - rs12984041 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.-304G>C r.(?) p.(=) Unknown - likely benign g.47249296G>C - - - FKRP_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-302C>A r.(?) p.(=) Unknown - VUS g.47249298C>A - - - STRN4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-253+17_-253+26dup r.(=) p.(=) Unknown - likely benign g.47249364_47249373dup - FKRP(NM_001039885.2):c.-305+4_-305+5insGGCCGGGCCG (p.(=)) - FKRP_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-253+22_-253+26del r.(=) p.(=) Unknown - likely benign g.47249369_47249373del - FKRP(NM_001039885.3):c.-305+22_-305+26delCCGGG - FKRP_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-253+22_-253+26del r.(=) p.(=) Unknown - likely benign g.47249369_47249373del - FKRP(NM_001039885.3):c.-305+22_-305+26delCCGGG - FKRP_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.-253+22_-253+26dup r.(?) p.(=) Parent #1 - VUS g.47249369_47249373dup g.46746112_46746116dup - - FKRP_000162 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.-253+22_-253+26dup r.(=) p.(=) Unknown - likely benign g.47249369_47249373dup - STRN4(NM_001039877.1):c.282+54_282+55insCGGCC (p.?) - FKRP_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-253+298_-253+300dup r.(=) p.(=) Unknown - VUS g.47249645_47249647dup - STRN4(NM_001039877.1):c.49_50insCCT (p.?) - FKRP_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.-190-84C>T r.(?) p.(=) Unknown - benign g.47251688C>T - - - FKRP_000049 - rs1644332 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.-44C>T r.(?) p.(=) Unknown - benign g.47251918C>T - - - FKRP_000046 - rs1693995 - - Germline - 0.01 - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-40+8C>G r.(=) p.(=) Unknown - likely benign g.47251930C>G - FKRP(NM_001039885.2):c.-84C>G (p.(=)) - FKRP_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.-34C>T r.(?) p.(=) Parent #1 - benign g.47258674C>T g.46755417C>T - - FKRP_000008 - - - rs16980701 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 4 c.-34C>T r.-34c>u p.= Parent #1 - benign g.47258674C>T g.46755417C>T - - FKRP_000008 - PubMed: Brockington 2001 - - Germline - 0.25 - 0 - DNA, RNA SEQ - - - ? PubMed: Brockington 2001 - - - - - - 0 - - 1 Johan den Dunnen
-/. 4 c.-34C>T r.(?) p.(=) Unknown - benign g.47258674C>T g.46755417C>T - - FKRP_000008 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.-34C>T r.(?) p.(=) Unknown - benign g.47258674C>T - - - FKRP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Netherlands - >13y 0 - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Netherlands - >25y 0 - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - ? - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - ? - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - ? - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - ? - Netherlands - - 0 - - 1 Ieke Ginjaar
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD-2 18832576-PatF3 - - M - United States - >12y 0 - - 1 Johan den Dunnen
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD-2 18832576-PatF4 - - M - United States - >40y 0 - - 1 Johan den Dunnen
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD-2 18832576-PatF5 - - F - United States - >22y 0 - - 1 Johan den Dunnen
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - LGMD-2 18832576-PatF9 - - M - United States - - 0 - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Parent #2 - pathogenic (recessive) g.47258708A>G - - - FKRP_000034 - PubMed: Mercuri - - Germline - - - 0 - DNA SEQ - - LGMD-2 Fam6-Pat7 / .. PubMed: Mercuri - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Paternal (confirmed) - pathogenic (recessive) g.47258708A>G - Met1Val - FKRP_000034 homozygosity mapping PubMed: VanReeuwijk 2010 - - Germline - - - 0 - DNA arraySNP, SEQ - - WWS 20236121-Pat1 PubMed: VanReeuwijk 2010 4-generation family, 2 affecteds, unaffected carriers M yes Netherlands - - 0 - - 4 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic (recessive) g.47258708A>G - Met1Val - FKRP_000034 homozygosity mapping PubMed: VanReeuwijk 2010 - - Germline - - - 0 - DNA arraySNP, SEQ - - WWS 20236121-Pat1 PubMed: VanReeuwijk 2010 4-generation family, 2 affecteds, unaffected carriers M yes Netherlands - - 0 - - 4 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Paternal (confirmed) - pathogenic (recessive) g.47258708A>G - Met1Val - FKRP_000034 - PubMed: VanReeuwijk 2010 - - Germline - - - 0 - DNA arraySNP, SEQ - - WWS 20236121-Pat2 PubMed: VanReeuwijk 2010 4-generation family, sib of 20236121-Pat1 - yes Netherlands - - 0 - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic (recessive) g.47258708A>G - Met1Val - FKRP_000034 - PubMed: VanReeuwijk 2010 - - Germline - - - 0 - DNA arraySNP, SEQ - - WWS 20236121-Pat2 PubMed: VanReeuwijk 2010 4-generation family, sib of 20236121-Pat1 - yes Netherlands - - 0 - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Parent #1 - pathogenic g.47258708A>G - - - FKRP_000034 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
+/. 4 c.3G>T r.(?) p.0? Parent #1 - pathogenic (recessive) g.47258710G>T - - - FKRP_000065 - Yamamoto WMS2005 G.P.2.08 - - Germline - - - 0 - DNA SEQ - - MD ? Yamamoto WMS2005 G.P.2.08 - - - Brazil - - 0 - - 1 Johan den Dunnen
-?/. - c.11C>G r.(?) p.(Thr4Ser) Unknown - likely benign g.47258718C>G - FKRP(NM_001039885.2):c.11C>G (p.T4S) - FKRP_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.11C>G r.(?) p.(Thr4Ser) Parent #1 - VUS g.47258718C>G - - - FKRP_000175 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
?/. 4 c.43A>C r.(?) p.(Thr15Pro) Parent #1 - VUS g.47258750A>C - - - FKRP_000194 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
?/. 4 c.54T>A r.(?) p.(=) Parent #1 - VUS g.47258761T>A - - - FKRP_000195 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 4 c.63C>A r.(?) p.(=) Parent #1 - benign g.47258770C>A - - - FKRP_000020 - PubMed: Brockington 2001 - - Germline - - - 0 - DNA SEQ - - - ? PubMed: Brockington 2001 - - - - - - 0 - - 1 Johan den Dunnen
-/. 4 c.63C>T r.(?) p.(=) Parent #1 - benign g.47258770C>T - - - FKRP_000094 - - - - Germline - - - 0 - DNA SEQ - - - ? - - - - Netherlands - - 0 - - 1 Ieke Ginjaar
+?/. - c.74C>A r.(?) p.(Ser25*) Parent #1 - likely pathogenic (recessive) g.47258781C>A g.46755524C>A - - FKRP_000248 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel LGMD Pat28 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.76_77del r.(?) p.(Trp26Alafs*6) Parent #2 - likely pathogenic (recessive) g.47258783_47258784del g.46755526_46755527del - - FKRP_000249 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel LGMD Pat28 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.82C>G r.(?) p.(Gln28Glu) Unknown - likely benign g.47258789C>G - FKRP(NM_001039885.2):c.82C>G (p.(Gln28Glu)) - FKRP_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.82C>G r.(?) p.(Gln28Glu) Parent #1 - VUS g.47258789C>G - - - FKRP_000176 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.82C>G r.(?) p.(Gln28Glu) Unknown - VUS g.47258789C>G - FKRP(NM_001039885.2):c.82C>G (p.(Gln28Glu)) - FKRP_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.85C>T r.(?) p.(His29Tyr) Parent #1 - VUS g.47258792C>T - - - FKRP_000196 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.114G>T r.(?) p.(=) Unknown - benign g.47258821G>T - FKRP(NM_001039885.3):c.114G>T (p.G38=) - FKRP_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.135C>T r.(?) p.(=) Parent #1 - benign g.47258842C>T g.46755585C>T - - FKRP_000021 - - - rs2287717 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 4 c.135C>T r.135c>u p.= Parent #1 - benign g.47258842C>T g.46755585C>T - - FKRP_000021 - PubMed: Brockington 2001 - - Germline - 0.09 NgoMIV- 0 - DNA, RNA SEQ - - - ? PubMed: Brockington 2001 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. 4 c.135C>T r.(?) p.(=) Parent #1 - benign g.47258842C>T g.46755585C>T - - FKRP_000021 - Yamamoto WMS2005 G.P.2.08 - - Germline - - NgoMIV- 0 - DNA SEQ - - - ? Yamamoto WMS2005 G.P.2.08 - - - Brazil - - 0 - - 1 Johan den Dunnen
+/. 4 c.135C>T r.(?) p.(=) Parent #1 - pathogenic (recessive) g.47258842C>T g.46755585C>T - - FKRP_000021 shared alleles from D19S412 to D19S540 PubMed: Frosk - - Germline - - NgoMIV- 0 - DNA SEQ - - LGMD-2 ? PubMed: Frosk European origin, 19 affecteds 5 families - - United States Hutterite - 0 - - 19 Johan den Dunnen
+/. 4 c.135C>T r.(?) p.(=) Parent #2 - pathogenic (recessive) g.47258842C>T g.46755585C>T - - FKRP_000021 shared alleles from D19S412 to D19S540 PubMed: Frosk - - Germline - - NgoMIV- 0 - DNA SEQ - - LGMD-2 ? PubMed: Frosk European origin, 19 affecteds 5 families - - United States Hutterite - 0 - - 19 Johan den Dunnen
-/. 4 c.135C>T r.(?) p.(=) Parent #1 - benign g.47258842C>T g.46755585C>T - - FKRP_000021 in controls and LGMD patients PubMed: de Paula 2003 - - Germline - - NgoMIV- 0 - DNA SEQ - - LGMD ? PubMed: de Paula 2003 - - - Brazil - - 0 - - 1 Johan den Dunnen
-/. 4 c.135C>T r.(?) p.(=) Unknown - benign g.47258842C>T g.46755585C>T - - FKRP_000021 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/-? 4 c.135C>T r.(?) p.(=) Unknown - likely benign g.47258842C>T g.46755585C>T - - FKRP_000021 - - - - Germline - - NgoMIV- 0 - DNA PCR, SEQ - - LGMD-2 3194CRP414879 - - M no United States British - 0 - - 1 Vikki Stefans
-/. - c.135C>T r.(?) p.(=) Unknown - benign g.47258842C>T - FKRP(NM_001039885.2):c.135C>T (p.A45=), FKRP(NM_001039885.3):c.135C>T (p.A45=) - FKRP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.135C>T r.(?) p.(=) Unknown - benign g.47258842C>T - FKRP(NM_001039885.2):c.135C>T (p.A45=), FKRP(NM_001039885.3):c.135C>T (p.A45=) - FKRP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.135C>T r.(?) p.(=) Unknown - benign g.47258842C>T - FKRP(NM_001039885.2):c.135C>T (p.A45=), FKRP(NM_001039885.3):c.135C>T (p.A45=) - FKRP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.137del r.(?) p.(Gly46Alafs*22) Unknown - likely pathogenic g.47258844del - FKRP(NM_001039885.3):c.137delG (p.G46Afs*22) - FKRP_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.143G>C r.(?) p.(Arg48Pro) Paternal (inferred) - VUS g.47258850G>C g.46755593G>C - - FKRP_000172 - PubMed: Navarro-Cobos 2017 - - Germline ? - - 0 - DNA MLPA, SEQ Peripheral blood leukocytes - - 29065428-Pat4 PubMed: Navarro-Cobos 2017 2-generation family, 1 affected, only mother available for analysis M ? Mexico Mexican >40y 0 no - 1 Miguel Angel Alcántara-Ortigoza
?/. 4 c.151G>A r.(?) p.(Val51Ile) Parent #1 - VUS g.47258858G>A - - - FKRP_000197 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.154_158dup r.(?) p.(Arg54Trpfs*14) Parent #2 - pathogenic (recessive) g.47258861_47258865dup - - - FKRP_000035 - PubMed: Mercuri - - Germline - - - 0 - DNA SEQ - - LGMD-2 Fam9 .. PubMed: Mercuri - - - - - - 0 - - 1 Johan den Dunnen
?/. 4 c.155T>A r.(?) p.(Leu52Gln) Paternal (confirmed) - VUS g.47258862T>A - - - FKRP_000141 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - - - (United States) Pakistani - 0 - - 1 Tom Winder
?/. 4 c.155T>A r.(?) p.(Leu52Gln) Maternal (confirmed) - VUS g.47258862T>A - - - FKRP_000141 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - - - (United States) Pakistani - 0 - - 1 Tom Winder
+/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15) Parent #2 - pathogenic (recessive) g.47258865_47258869dup - - - FKRP_000039 - Sveen WMS2005 L.P.3.06 - - Germline - - - 0 - DNA SEQ - - LGMD ? Sveen WMS2005 L.P.3.06 - - - Denmark - - 0 - - 1 Marianne Schwartz
+/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15) Parent #2 - pathogenic (recessive) g.47258865_47258869dup - - - FKRP_000039 - - - - Germline - - - 0 - DNA SEQ - - LGMD-2 ? - - M - United States - - 0 - - 1 Akanchha Kesari
+/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15) Parent #1 - pathogenic (recessive) g.47258865_47258869dup - - - FKRP_000039 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - United States - >1y 0 - - 1 Tom Winder
+?/. 4 c.158_162dup r.(?) p.(Glu55Cysfs*15) Parent #1 - likely pathogenic (recessive) g.47258865_47258869dup - 158_162dupTGCGG - FKRP_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - M - United States Caucasian - 0 - - 1 Tom Winder
+/. 4 c.160C>T r.(?) p.(Arg54Trp) Parent #1 - pathogenic (recessive) g.47258867C>T - - - FKRP_000084 - PubMed: Harel 2004, OMIM:var0011 - rs28937905 Germline - - - 0 - DNA SEQ - - LGMD ? PubMed: Harel 2004, OMIM:var0011 15 affecteds; chromosome 19 linked - - Israel Bedouin - 0 - - 15 Johan den Dunnen
+/. 4 c.160C>T r.(?) p.(Arg54Trp) Parent #2 - pathogenic (recessive) g.47258867C>T - - - FKRP_000084 - PubMed: Harel 2004, OMIM:var0011 - rs28937905 Germline - - - 0 - DNA SEQ - - LGMD ? PubMed: Harel 2004, OMIM:var0011 15 affecteds; chromosome 19 linked - - Israel Bedouin - 0 - - 15 Johan den Dunnen
+/. - c.160C>T r.(?) p.(Arg54Trp) Unknown - pathogenic g.47258867C>T - - - FKRP_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.162_165dup r.(?) p.(Phe56Glyfs*6) Parent #2 - pathogenic (recessive) g.47258869_47258872dup - - - FKRP_000013 - PubMed: Brockington, PubMed: Mercuri, PubMed: Torelli 2005 - - Germline - - - 0 - DNA SEQ - - MDC Fam3 PubMed: Brockington, PubMed: Mercuri, PubMed: Torelli 2005 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 4 c.162_165dup r.(?) p.(Phe56Glyfs*6) Parent #1 - pathogenic (recessive) g.47258869_47258872dup - 162_165dupGGAG - FKRP_000013 - PubMed: Peat 2008 - - Germline - - - 0 - DNA SEQ - - MDC Pat63/Pat59 PubMed: Peat 2008, PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.162_165dup r.(?) p.(Phe56Glyfs*6) Parent #1 - pathogenic (recessive) g.47258869_47258872dup - 162_165dupGGAG - FKRP_000013 - - - - Germline - - - 0 - DNA PCR, SEQ - - MD ? - - M - United States - - 0 - - 1 Tom Winder
+/. 4 c.163G>C r.(?) p.(Glu55Gln) Parent #1 - pathogenic (recessive) g.47258870G>C - - - FKRP_000091 - Freixas ESHG2006 P0925 - - Germline - - - 0 - DNA SEQ - - LGMD ? Freixas ESHG2006 P0925 - F - Spain - >40y 0 - - 1 Johan den Dunnen
+/. 4 c.163G>C r.(?) p.(Glu55Gln) Parent #2 - pathogenic (recessive) g.47258870G>C - - - FKRP_000091 - Freixas ESHG2006 P0925 - - Germline - - - 0 - DNA SEQ - - LGMD ? Freixas ESHG2006 P0925 - F - Spain - >40y 0 - - 1 Johan den Dunnen
+/. 4 c.163G>C r.(?) p.(Glu55Gln) Parent #2 - pathogenic (recessive) g.47258870G>C - E55Q - FKRP_000091 - PubMed: Wahbi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD-2 18639457.12-1 PubMed: Wahbi 2008 mild BMD-like M - France - >47y 0 - - 1 Johan den Dunnen
?/. - c.169G>A r.(?) p.Glu57Lys Both (homozygous) ACMG VUS g.47258876G>A - - - FKRP_000191 - - - rs773024545 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
?/. 4 c.169G>A r.(?) p.(Glu57Lys) Parent #1 - VUS g.47258876G>A - - - FKRP_000191 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
?/. 4 c.192C>T r.(?) p.(=) Parent #1 - VUS g.47258899C>T - - - FKRP_000088 - - - - Germline - - - 0 - DNA DHPLC, SEQ - - LGMD-2 ? - - M - United States - - 0 - - 1 Akanchha Kesari
?/. 4 c.192C>T r.(?) p.(=) Parent #2 - VUS g.47258899C>T - - - FKRP_000088 - - - - Germline - - - 0 - DNA DHPLC, SEQ - - LGMD-2 ? - - M - United States - - 0 - - 1 Akanchha Kesari
-/. 4 c.192C>T r.(?) p.(=) Parent #1 - benign g.47258899C>T - - - FKRP_000088 - PubMed: de Paula 2003 - - Germline - - - 0 - DNA DHPLC - - - ? PubMed: de Paula 2003 - - - Brazil - - 0 - - 2 Johan den Dunnen
-/. 4 c.192C>T r.(?) p.(=) Parent #1 - benign g.47258899C>T - - - FKRP_000088 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/. - c.192C>T r.(?) p.(=) Unknown - benign 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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