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.

6487 entries on 65 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.-39-61_*1769del r.? p.0? Parent #2 - pathogenic (recessive) g.47258608_47261964del g.46755351_46758707del - - chr19_008813 - PubMed: Yuan 2025 - - Germline - - - - - DNA SEQ - - MD Pat43 PubMed: Yuan 2025 patient - - China - - - - - 1 Johan den Dunnen
+/. - c.-40+2352_*1262del r.? p.0? Parent #2 - pathogenic (recessive) g.47254274_47261457del g.46751017_46758200del - - chr19_008805 - PubMed: Yuan 2025 - - Germline - - - - - DNA SEQ - - MD Pat6 PubMed: Yuan 2025 patient M - China - - - - - 1 Johan den Dunnen
+/. - c.1050_*1027delinsTCAA r.(?) p.(Ala351GlnfsTer10) Parent #2 - pathogenic (recessive) g.47259757_47261222delinsTCAA g.46756500_46757965delinsTCAA 1050_1027delinsTCAA - FKRP_000114 - PubMed: Gonzalez-Perez 2020 - - Germline - - - - - DNA SEQ - - MD - PubMed: Gonzalez-Perez 2020 patient - - United States - - - - - 1 Johan den Dunnen
+/. - c.1050_*1027delinsTCAA r.(?) p.(Ala351GlnfsTer10) Parent #2 - pathogenic (recessive) g.47259757_47261222delinsTCAA g.46756500_46757965delinsTCAA 1050_1027delinsTCAA - FKRP_000114 - PubMed: Gonzalez-Perez 2020 - - Germline - - - - - DNA SEQ - - MD - PubMed: Gonzalez-Perez 2020 patient - - United States - - - - - 1 Johan den Dunnen
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 FamPat1/3 PubMed: Walter 2004 family, 2 affected sibs (F, M) F;M yes Germany - - - - - 2 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat4 PubMed: Walter 2004 - M yes Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat6 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat2 PubMed: Walter 2004 - M - Croatia (Hrvatska) - - - - - 3 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat2 PubMed: Walter 2004 - M - Croatia (Hrvatska) - - - - - 3 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 control chromosomes PubMed: Walter 2004, PubMed: Frosk - - Germline - 41/84 - - - DNA SEQ - - Healthy/Control Pat? PubMed: Walter 2004, PubMed: Frosk - - - Germany - - - - - 41 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #2 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat15 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat14 PubMed: Walter 2004 - M - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat17 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat18 PubMed: Walter 2004 - M - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat19 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat20 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Parent #1 - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat16 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat5 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat7 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat8 PubMed: Walter 2004 - M - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat9 PubMed: Walter 2004 - M - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat10 PubMed: Walter 2004 - M - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat11 PubMed: Walter 2004 - M - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat12 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
-/. 1 c.-621C>G r.(=) p.(=) Both (homozygous) - benign g.47248979C>G g.46745722C>G - - FKRP_000033 - PubMed: Walter 2004 - - Germline - - BfaI- - - DNA SEQ - - LGMD2 Pat13 PubMed: Walter 2004 - F - Germany - - - - - 1 Rolf Stucka
?/. _1 c.-304G>C r.(=) p.(=) Parent #1 - VUS g.47249296G>C g.46746039G>C - - FKRP_000171 - - - rs12984041 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-304G>C r.(?) p.(=) Unknown - likely benign g.47249296G>C g.46746039G>C - - FKRP_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-302C>A r.(?) p.(=) Unknown - VUS g.47249298C>A g.46746041C>A - - STRN4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-253+5G>A r.spl p.? Both (homozygous) ACMG VUS g.47249352G>A g.46746095G>A - - FKRP_000334 ACMG PM2, PP3 PubMed: Molaei 2025 SCV006074937.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam212370Pat788 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - 1 Johan den Dunnen
-?/. - c.-253+9G>A r.(=) p.(=) Unknown - likely benign g.47249356G>A - FKRP(NM_024301.5):c.-253+9G>A - FKRP_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-253+17_-253+26dup r.(=) p.(=) Unknown - likely benign g.47249364_47249373dup g.46746107_46746116dup 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 g.46746112_46746116del - - 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 - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-253+22_-253+26dup r.(=) p.(=) Unknown - likely benign g.47249369_47249373dup g.46746112_46746116dup FKRP(NM_024301.5):c.-253+22_-253+26dupCCGGG, STRN4(NM_001039877.1):c.282+54_282+55insCGGCC (p.(=)) - FKRP_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-253+22_-253+26dup r.(=) p.(=) Unknown - likely benign g.47249369_47249373dup - FKRP(NM_024301.5):c.-253+22_-253+26dupCCGGG, STRN4(NM_001039877.1):c.282+54_282+55insCGGCC (p.(=)) - FKRP_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-253+298_-253+300dup r.(=) p.(=) Unknown - VUS g.47249645_47249647dup g.46746388_46746390dup STRN4(NM_001039877.1):c.49_50insCCT (p.?) - FKRP_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_4i c.(-253+1_-252-1)_(-40+1_-39-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(47249348_47251283)_(47251923_47258668)del g.(46746091_46748026)_(46748666_46755411)del del ex2-3, (-253+1_-252-1)_(-40+1_-39-1) - FKRP_000356 - PubMed: Belhassen 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - - LGMD FamPat1 PubMed: Belhassen 2023 2-generation family, affected sister/brother, unaffected heterozygous carrier parents M no Tunisia - - - - - 2 Johan den Dunnen
+/. 1i_4i c.(-253+1_-252-1)_(-40+1_-39-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(47249348_47251283)_(47251923_47258668)del g.(46746091_46748026)_(46748666_46755411)del del ex2-3, (-253+1_-252-1)_(-40+1_-39-1) - FKRP_000356 - PubMed: Belhassen 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - - LGMD FamPat2 PubMed: Belhassen 2023 sister F no Tunisia - - - - - 1 Johan den Dunnen
-/. 3 c.-190-84C>T r.(?) p.(=) Unknown - benign g.47251688C>T g.46748431C>T - - FKRP_000049 - rs1644332 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.-44C>T r.(?) p.(=) Unknown - benign g.47251918C>T g.46748661C>T - - FKRP_000046 - rs1693995 - - Germline - 0.01 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-40+8C>G r.(=) p.(=) Unknown - likely benign g.47251930C>G g.46748673C>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 - - - - - DNA SEQ - - - - - - - - Germany - - - - - 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 - - - DNA, RNA SEQ - - - ? PubMed: Brockington 2001 - - - - - - - - - 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 - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.-34C>T r.(?) p.(=) Unknown - benign g.47258674C>T g.46755417C>T - - FKRP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34C>T r.(?) p.(=) Unknown - benign g.47258674C>T g.46755417C>T - - FKRP_000008 - PubMed: Qualtieri 2024 - rs3201779 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Qualtieri 2024 control - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.-34_1007del r.(?) p.(Met1_Leu347del) Parent #2 - likely pathogenic (recessive) g.47258674_47259714del g.46755417_46756457del - - chr19_008809 - PubMed: Yuan 2025 - - Germline - - - - - DNA SEQ - - MD Pat35 PubMed: Yuan 2025 patient - - China - - - - - 1 Johan den Dunnen
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Netherlands - >13y - - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Netherlands - >25y - - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - ? - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - ? - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - ? - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1_4 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD ? - - ? - Netherlands - - - - - 1 Ieke Ginjaar
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD2 18832576-PatF3 - - M - United States - >12y - - - 1 Johan den Dunnen
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD2 18832576-PatF4 - - M - United States - >40y - - - 1 Johan den Dunnen
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD2 18832576-PatF5 - - F - United States - >22y - - - 1 Johan den Dunnen
?/. 1_4 c.? r.? p.? Parent #2 - VUS g.? - - - FKRP_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - LGMD2 18832576-PatF9 - - M - United States - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - 1012C>T - FKRP_000000 - PubMed: Brown 2020 - - Germline - - - - - DNA SEQ - - LGMD2 Pat3 PubMed: Brown 2020 - M - England - 16y - - - 1 Johan den Dunnen
+/. - c.1A>C - p.Met1? Unknown - NA g.47258708A>C g.46755451A>C - - chr19_008854 SMuRF classification damaging_severe (fitness normalized score -3,191713697) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1A>G r.(?) p.0? Parent #2 - pathogenic (recessive) g.47258708A>G g.46755451A>G - - FKRP_000034 - PubMed: Mercuri - - Germline - - - - - DNA SEQ - - LGMD2 Fam6-Pat7 / .. PubMed: Mercuri - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Paternal (confirmed) - pathogenic (recessive) g.47258708A>G g.46755451A>G Met1Val - FKRP_000034 homozygosity mapping PubMed: VanReeuwijk 2010 - - Germline - - - - - DNA arraySNP, SEQ - - WWS 20236121-Pat1 PubMed: VanReeuwijk 2010 4-generation family, 2 affecteds, unaffected carriers M yes Netherlands - - - - - 4 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic (recessive) g.47258708A>G g.46755451A>G Met1Val - FKRP_000034 homozygosity mapping PubMed: VanReeuwijk 2010 - - Germline - - - - - DNA arraySNP, SEQ - - WWS 20236121-Pat1 PubMed: VanReeuwijk 2010 4-generation family, 2 affecteds, unaffected carriers M yes Netherlands - - - - - 4 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Paternal (confirmed) - pathogenic (recessive) g.47258708A>G g.46755451A>G Met1Val - FKRP_000034 - PubMed: VanReeuwijk 2010 - - Germline - - - - - DNA arraySNP, SEQ - - WWS 20236121-Pat2 PubMed: VanReeuwijk 2010 4-generation family, sib of 20236121-Pat1 - yes Netherlands - - - - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic (recessive) g.47258708A>G g.46755451A>G Met1Val - FKRP_000034 - PubMed: VanReeuwijk 2010 - - Germline - - - - - DNA arraySNP, SEQ - - WWS 20236121-Pat2 PubMed: VanReeuwijk 2010 4-generation family, sib of 20236121-Pat1 - yes Netherlands - - - - - 1 Johan den Dunnen
+/. 4 c.1A>G r.(?) p.0? Parent #1 - pathogenic g.47258708A>G g.46755451A>G - - FKRP_000034 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.1A>G - p.Met1? Unknown - NA g.47258708A>G g.46755451A>G - - FKRP_000034 SMuRF classification damaging_severe (fitness normalized score -3,287171294) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>T - p.Met1? Unknown - NA g.47258708A>T g.46755451A>T - - chr19_008855 SMuRF classification damaging_severe (fitness normalized score -3,210436646) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>A - p.Met1? Unknown - NA g.47258709T>A g.46755452T>A - - chr19_008856 SMuRF classification damaging_severe (fitness normalized score -3,686348383) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C - p.Met1? Unknown - NA g.47258709T>C g.46755452T>C - - chr19_008857 SMuRF classification damaging_severe (fitness normalized score -3,138489715) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>G - p.Met1? Unknown - NA g.47258709T>G g.46755452T>G - - chr19_008858 SMuRF classification damaging_severe (fitness normalized score -3,520067752) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A - p.Met1? Unknown - NA g.47258710G>A g.46755453G>A - - chr19_008859 SMuRF classification damaging_severe (fitness normalized score -3,290098891) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>C - p.Met1? Unknown - NA g.47258710G>C g.46755453G>C - - chr19_008860 SMuRF classification damaging_severe (fitness normalized score -2,919062986) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.3G>T r.(?) p.0? Parent #1 - pathogenic (recessive) g.47258710G>T g.46755453G>T - - FKRP_000065 - Yamamoto WMS2005 G.P.2.08 - - Germline - - - - - DNA SEQ - - MD ? Yamamoto WMS2005 G.P.2.08 - - - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3G>T - p.Met1? Unknown - NA g.47258710G>T g.46755453G>T - - FKRP_000065 SMuRF classification damaging_severe (fitness normalized score -3,17819232) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4C>A - p.Arg2= Unknown - NA g.47258711C>A g.46755454C>A - - chr19_008861 SMuRF classification functional (fitness normalized score 1,182672227) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4C>G - p.Arg2Gly Unknown - NA g.47258711C>G g.46755454C>G - - chr19_008862 SMuRF classification damaging_mild (fitness normalized score -1,308524773) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4C>T - p.Arg2Trp Unknown - NA g.47258711C>T g.46755454C>T - - chr19_008863 SMuRF classification damaging_mild (fitness normalized score -0,872175539) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5G>A - p.Arg2Gln Unknown - NA g.47258712G>A g.46755455G>A - - chr19_008864 SMuRF classification functional (fitness normalized score -0,806801454) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5G>C - p.Arg2Pro Unknown - NA g.47258712G>C g.46755455G>C - - chr19_008865 SMuRF classification damaging_mild (fitness normalized score -1,055919946) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5G>T - p.Arg2Leu Unknown - NA g.47258712G>T g.46755455G>T - - chr19_008866 SMuRF classification functional (fitness normalized score -0,629717544) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6G>A - p.Arg2= Unknown - NA g.47258713G>A g.46755456G>A - - chr19_008867 SMuRF classification functional (fitness normalized score 0,839511624) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6G>C - p.Arg2= Unknown - NA g.47258713G>C g.46755456G>C - - chr19_008868 SMuRF classification functional (fitness normalized score -0,252985579) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6G>T - p.Arg2= Unknown - NA g.47258713G>T g.46755456G>T - - chr19_008869 SMuRF classification functional (fitness normalized score 1,010862282) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7C>A - p.Leu3Ile Unknown - NA g.47258714C>A g.46755457C>A - - chr19_008870 SMuRF classification functional (fitness normalized score 0,473041807) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7C>G - p.Leu3Val Unknown - NA g.47258714C>G g.46755457C>G - - chr19_008871 SMuRF classification functional (fitness normalized score -0,3630365) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7C>T - p.Leu3Phe Unknown - NA g.47258714C>T g.46755457C>T - - chr19_008872 SMuRF classification functional (fitness normalized score 0,502509107) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8T>A - p.Leu3His Unknown - NA g.47258715T>A g.46755458T>A - - chr19_008873 SMuRF classification functional (fitness normalized score -0,070737103) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8T>C - p.Leu3Pro Unknown - NA g.47258715T>C g.46755458T>C - - chr19_008874 SMuRF classification functional (fitness normalized score 0,533181083) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8T>G - p.Leu3Arg Unknown - NA g.47258715T>G g.46755458T>G - - chr19_008875 SMuRF classification damaging_mild (fitness normalized score -1,125404768) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9C>A - p.Leu3= Unknown - NA g.47258716C>A g.46755459C>A - - chr19_008876 SMuRF classification functional (fitness normalized score 0,498826932) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9C>G - p.Leu3= Unknown - NA g.47258716C>G g.46755459C>G - - chr19_008877 SMuRF classification functional (fitness normalized score 0,49989921) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9C>T - p.Leu3= Unknown - NA g.47258716C>T g.46755459C>T - - chr19_008878 SMuRF classification functional (fitness normalized score 0,214593928) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10A>C - p.Thr4Pro Unknown - NA g.47258717A>C g.46755460A>C - - chr19_008879 SMuRF classification functional (fitness normalized score -0,828775335) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10A>G - p.Thr4Ala Unknown - NA g.47258717A>G g.46755460A>G - - chr19_008880 SMuRF classification functional (fitness normalized score -0,556994895) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10A>T - p.Thr4Ser Unknown - NA g.47258717A>T g.46755460A>T - - chr19_008881 SMuRF classification functional (fitness normalized score 0,684747155) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.11C>A - p.Thr4Asn Unknown - NA g.47258718C>A g.46755461C>A - - chr19_008882 SMuRF classification functional (fitness normalized score -0,525118379) PubMed: Ma 2024, PubMed: Ma 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11C>G r.(?) p.(Thr4Ser) Unknown - likely benign g.47258718C>G g.46755461C>G FKRP(NM_001039885.2):c.11C>G (p.T4S, p.(Thr4Ser)) - FKRP_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.11C>G r.(?) p.(Thr4Ser) Parent #1 - VUS g.47258718C>G g.46755461C>G - - FKRP_000175 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.11C>G r.(?) p.(Thr4Ser) Unknown - VUS g.47258718C>G - FKRP(NM_001039885.2):c.11C>G (p.T4S, p.(Thr4Ser)) - FKRP_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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