Full data view for gene MUSK

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_005592.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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.-82T>C r.(=) p.(=) Parent #1 - VUS g.113431103T>C g.110668823T>C - - MUSK_000044 66 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41279047 Germline - 66/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 66 Mohammed Faruq
?/. - c.-82T>C r.(=) p.(=) Both (homozygous) - VUS g.113431103T>C g.110668823T>C - - MUSK_000044 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41279047 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. 3i c.? r.(?) p.(=) Unknown - benign g.? - IVS3-20T>C - MUSK_000004 - PubMed: Chevessier 2004 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.40dup r.40dup p.Thr14Asnfs*9 Both (homozygous) - pathogenic g.113431224dup g.110668944dup - - MUSK_000011 whole exome sequencing, no NMD; parents share 4.0 Mb haplotype PubMed: Wilbe 2015, Journal: Wilbe 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Wilbe 2015, Journal: Wilbe 2015 2-generation family, five affected children/fetuses, unaffected heterozygous carrier parents - no Sweden - - - - - 5 Johan den Dunnen
+/. - c.70del r.(?) p.(Leu24PhefsTer17) Unknown - pathogenic g.113431254del - MUSK(NM_005592.4):c.70delC (p.L24Ffs*17) - MUSK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80-8C>T r.(=) p.(=) Unknown - likely benign g.113444946C>T - MUSK(NM_005592.3):c.80-8C>T - MUSK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_3i c.(79+1_80-1)_(358+1_359-1)del r.80_358del p.Ala27_Lys120delinsGlu Paternal (inferred) - pathogenic g.? - - - MUSK_000013 deletion detected on RNA PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. 2 c.114T>A r.114u>a p.Asp38Glu Maternal (confirmed) - pathogenic g.113444988T>A g.110682708T>A - - MUSK_000012 - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
-/. 2i c.206+28A>T r.(?) p.(=) Unknown - benign g.113445108A>T g.110682828A>T IVS2+28A>T - MUSK_000003 - PubMed: Chevessier 2004 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.(220dup) r.(?) p.(fs*) Unknown - NA g.113449410dup g.110687130dup - - MUSK_000001 expression cloning in rat MUSK; absence MUSK expression PubMed: Chevessier 2004, OMIM:var0002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - likely pathogenic g.113449410C>T g.110687130C>T MUSK(NM_005592.4):c.220C>T (p.R74W) - MUSK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.220dup r.(?) p.(fs*) Paternal (confirmed) - pathogenic g.113449410dup g.110687130dup 220insC - MUSK_000001 no variants CHRNE, RAPSN; not in 200 control chromosomes; father unaffected carrier PubMed: Chevessier 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - ? - PubMed: Chevessier 2004 - F no (France) - >27y - - - 2 Johan den Dunnen
+/. 3 c.220dup r.(?) p.(fs*) Paternal (confirmed) - pathogenic g.113449410dup g.110687130dup 220insC - MUSK_000001 no variants CHRNE, RAPSN; not in 200 control chromosomes PubMed: Chevessier 2004, OMIM:var0002 - - Germline - - - - - DNA SEQ - - ? - PubMed: Chevessier 2004 deceased older brother 15496425-Pat2 M no (France) - 1y6m - - - 1 Johan den Dunnen
+/. 3 c.224A>C r.(224a>c) p.(Tyr75Ser) Both (homozygous) - pathogenic g.113449414A>C g.110687134A>C - - MUSK_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - FADS - - - F yes - - - - - - 1 Elisa De Franco
-/. 3 c.225C>T r.(=) p.(Tyr75=) Parent #1 - benign g.113449415C>T g.110687135C>T - - MUSK_000023 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.225C>T r.(?) p.(=) Unknown - likely benign g.113449415C>T - MUSK(NM_005592.4):c.225C>T (p.(Tyr75=)) - MUSK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.251T>C r.(?) p.(Leu84Pro) Unknown - VUS g.113449441T>C g.110687161T>C - - MUSK_000033 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - CMS - - - M no Spain - >50y - - 3,4-diaminopyridine and ephedrine 1 Fernando Ostos
-/. - c.299C>T r.(?) p.(Thr100Met) Unknown - benign g.113449489C>T g.110687209C>T MUSK(NM_005592.4):c.299C>T (p.(Thr100Met), p.T100M) - MUSK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.299C>T r.(?) p.(Thr100Met) Parent #1 - likely benign g.113449489C>T g.110687209C>T - - MUSK_000026 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35142681 Germline - 18/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
-/. - c.299C>T r.(?) p.(Thr100Met) Unknown - benign g.113449489C>T - MUSK(NM_005592.4):c.299C>T (p.(Thr100Met), p.T100M) - MUSK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308A>G r.(?) p.(Asn103Ser) Parent #1 - likely pathogenic g.113449498A>G g.110687218A>G - - MUSK_000048 - PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus M - France - - - - - 1 Johan den Dunnen
+?/. 3 c.308A>G r.(?) p.(Asn103Ser) Both (homozygous) - likely pathogenic g.113449498A>G g.110687218A>G - - MUSK_000048 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4525 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.312T>C r.(?) p.(Gly104=) Unknown - likely benign g.113449502T>C - MUSK(NM_005592.4):c.312T>C (p.G104=) - MUSK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A r.(?) p.(Gly107Glu) Unknown - VUS g.113449510G>A g.110687230G>A MUSK(NM_005592.4):c.320G>A (p.G107E) - MUSK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398T>C r.(?) p.(Ile133Thr) Unknown - likely benign g.113457722T>C g.110695442T>C MUSK(NM_001166280.1):c.398T>C (p.(Ile133Thr)), MUSK(NM_005592.4):c.398T>C (p.I133T) - MUSK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398T>C r.(?) p.(Ile133Thr) Unknown - likely benign g.113457722T>C - MUSK(NM_001166280.1):c.398T>C (p.(Ile133Thr)), MUSK(NM_005592.4):c.398T>C (p.I133T) - MUSK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.402G>A r.(=) p.(Glu144=) Parent #1 - benign g.113457726G>A g.110695446G>A - - MUSK_000005 - - - rs10980531 Germline - frequency up to 0,31% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 4 c.402G>A r.(?) p.(=) Unknown - benign g.113457726G>A g.110695446G>A G>A (E134) - MUSK_000005 - PubMed: Chevessier 2004 - - Germline - 60/200 - - - DNA SEQ - - ? - - - - - - - - - - - 60 Johan den Dunnen
+?/. 4 c.467del r.(?) p.(Lys156Argfs*20) Paternal (confirmed) - likely pathogenic g.113457791del g.110695511del - - MUSK_000008 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - F - Italy - - - - - 1 Tom Winder
+/. 4 c.467del r.(?) p.(Lys156Argfs*20) Paternal (confirmed) - pathogenic g.113457791del g.110695511del - - MUSK_000008 - PubMed: Maggi 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Maggi 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents - no Italy - - - - - 2 Johan den Dunnen
?/. - c.486G>C r.(?) p.(Arg162Ser) Unknown - VUS g.113457810G>C - MUSK(NM_005592.4):c.486G>C (p.(Arg162Ser)) - MUSK_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.537C>T r.(?) p.(=) Unknown - benign g.113459655C>T g.110697375C>T C>T (N179) - MUSK_000006 - PubMed: Chevessier 2004 - - Germline - 54/200 - - - DNA SEQ - - ? - - - - - - - - - - - 54 Johan den Dunnen
-/. - c.537C>T r.(?) p.(Asn179=) Unknown - benign g.113459655C>T g.110697375C>T MUSK(NM_005592.4):c.537C>T (p.N179=) - MUSK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557G>C r.(?) p.(Gly186Ala) Unknown - VUS g.113459675G>C - MUSK(NM_005592.4):c.557G>C (p.(Gly186Ala)) - MUSK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.629-5606G>A r.(?) p.(=) Parent #1 - benign g.113490925G>A g.110728645G>A - - MUSK_000021 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.629-5559A>C r.(=) p.(=) Unknown - benign g.113490972A>C - MUSK(NM_001166280.1):c.633A>C (p.(Glu211Asp)) - MUSK_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.629-3C>T r.spl? p.? Unknown - VUS g.113496528C>T - MUSK(NM_005592.3):c.629-3C>T, MUSK(NM_005592.4):c.629-3C>T - MUSK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.629-3C>T r.spl? p.? Unknown - VUS g.113496528C>T - MUSK(NM_005592.3):c.629-3C>T, MUSK(NM_005592.4):c.629-3C>T - MUSK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629-3C>T r.spl? p.? Unknown - likely benign g.113496528C>T - MUSK(NM_005592.3):c.629-3C>T, MUSK(NM_005592.4):c.629-3C>T - MUSK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.113496549G>A - MUSK(NM_005592.4):c.647G>A (p.R216Q) - MUSK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665A>G r.(?) p.(Asn222Ser) Unknown - VUS g.113496567A>G - MUSK(NM_005592.3):c.665A>G (p.N222S) - MUSK_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666T>C r.(?) p.(Asn222=) Unknown - likely benign g.113496568T>C g.110734288T>C MUSK(NM_005592.3):c.666T>C (p.N222=), MUSK(NM_005592.4):c.666T>C (p.N222=) - MUSK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666T>C r.(?) p.(Asn222=) Unknown - likely benign g.113496568T>C - MUSK(NM_005592.3):c.666T>C (p.N222=), MUSK(NM_005592.4):c.666T>C (p.N222=) - MUSK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.698G>A r.(?) p.(Cys233Tyr) Unknown ACMG likely pathogenic g.113496600G>A - - - MUSK_000053 - - - - Germline - - - - - DNA SEQ - - CMS9 20 - - F - - - - - - - 1 Martin Krenn
+?/. - c.753+1G>A r.spl? p.? Unknown - likely pathogenic g.113496656G>A g.110734376G>A MUSK(NM_005592.3):c.753+1G>A - MUSK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896C>G r.(?) p.(Ala299Gly) Unknown - VUS g.113510063C>G - MUSK(NM_005592.4):c.896C>G (p.(Ala299Gly)) - MUSK_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1027G>T r.(?) p.(Asp343Tyr) Unknown - VUS g.113530206G>T - MUSK(NM_005592.4):c.1027G>T (p.(Asp343Tyr)) - MUSK_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1031C>G r.(?) p.(Pro344Arg) Paternal (confirmed) - pathogenic g.113530210C>G g.110767930C>G - - MUSK_000007 no variants DOK7, COLQ; linkage LOD >3.0; not in 200 control chromosomes PubMed: Mihaylova 2009 - - Germline - - - - - DNA SEQ - - ? - PubMed: Mihaylova 2009 2-generation family, 5 affecteds (3M, 2F), fatherand maternal grandmother first-degree cousins - - Sudan - - - - - 6 Johan den Dunnen
+/. 9 c.1031C>G r.(?) p.(Pro344Arg) Maternal (confirmed) - pathogenic g.113530210C>G g.110767930C>G - - MUSK_000007 no variants DOK7, COLQ; linkage LOD >3.0; not in 200 control chromosomes PubMed: Mihaylova 2009 - - Germline - - - - - DNA SEQ - - ? - PubMed: Mihaylova 2009 2-generation family, 5 affecteds (3M, 2F), fatherand maternal grandmother first-degree cousins - - Sudan - - - - - 6 Johan den Dunnen
-?/. - c.1062G>A r.(?) p.(Thr354=) Unknown - likely benign g.113530241G>A g.110767961G>A MUSK(NM_005592.3):c.1062G>A (p.T354=) - MUSK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1239G>A r.(?) p.(Met413Ile) Unknown - benign g.113538122G>A g.110775842G>A MUSK(NM_005592.4):c.1239G>A (p.M413I) - MUSK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1239G>A r.(?) p.(Met413Ile) Unknown - benign g.113538122G>A g.110775842G>A MUSK(NM_005592.4):c.1239G>A (p.M413I) - MUSK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1360G>A r.(?) p.(Asp454Asn) Unknown - likely pathogenic g.113538243G>A g.110775963G>A - - MUSK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1634T>C r.(?) p.(Leu545Pro) Paternal (confirmed) - likely pathogenic g.113547854T>C g.110785574T>C - - MUSK_000018 - - - - Germline yes - - - - DNA SEQ-NG-I blood - CMS9 Case 2 Owen, submitted - M no India - - - - - 1 Ana Topf
+?/. - c.1657A>G r.(?) p.(Met553Val) Unknown - likely pathogenic g.113547877A>G - MUSK(NM_005592.4):c.1657A>G (p.(Met553Val)) - MUSK_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1724T>C r.(?) p.(Ile575Thr) Both (homozygous) - pathogenic g.113547944T>C g.110785664T>C - - MUSK_000010 homozygosity mapping PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 12-generation family, 14 affecteds (7F, 7M), unaffected heterozygous carrier parents - - Netherlands - - - - - 14 Johan den Dunnen
+/. 14 c.1724T>C r.(?) p.(Ile575Thr) Both (homozygous) - pathogenic g.113547944T>C g.110785664T>C g.113547944T>C - MUSK_000010 - PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 - - Germline - - - - - DNA SEQ - - ? - - - - yes Netherlands Dutch - - - - 1 Janneke Weiss
+/. - c.1724T>C r.(?) p.(Ile575Thr) Unknown - pathogenic g.113547944T>C g.110785664T>C MUSK(NM_005592.4):c.1724T>C (p.I575T) - MUSK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1724T>C r.(?) p.(Ile575Thr) Unknown - pathogenic g.113547944T>C - MUSK(NM_005592.4):c.1724T>C (p.I575T) - MUSK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1742T>A r.(?) p.(Ile581Asn) Both (homozygous) - likely pathogenic g.113547962T>A g.110785682T>A - - MUSK_000017 - - - - Germline yes - - - - DNA SEQ-NG blood - CMS9 Case 1 Owen, submitted - M ? India Labbay sect - - - - 1 Ana Topf
+?/. - c.1744G>A r.(?) p.(Gly582Arg) Unknown ACMG likely pathogenic g.113547964G>A - - - MUSK_000054 - - - - Germline - - - - - DNA SEQ - - CMS9 20 - - F - - - - - - - 1 Martin Krenn
?/. - c.1754C>T r.(?) p.(Ala585Val) Unknown - VUS g.113547974C>T - MUSK(NM_005592.3):c.1754C>T (p.A585V) - MUSK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1769T>C r.(?) p.(Phe590Ser) Unknown - likely pathogenic g.113547989T>C - MUSK(NM_005592.4):c.1769T>C (p.(Phe590Ser)) - MUSK_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1815G>A r.(?) p.(Met605Ile) Maternal (confirmed) - pathogenic g.113550006G>A g.110787726G>A M605I - MUSK_000015 - PubMed: Maselli 2010, Journal: Maselli 2010 - - Germline - - SfcI+ - - DNA SEQ - - ? - PubMed: Maselli 2010, Journal: Maselli 2010 2-generation family, patient and unaffected heterozygous carrier parents/sib F no United States - - - - - 1 Johan den Dunnen
?/. - c.1925T>C r.(?) p.(Leu642Ser) Unknown - VUS g.113550116T>C g.110787836T>C - - MUSK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1927+50T>C r.(=) p.(=) Unknown - benign g.113550168T>C g.110787888T>C MUSK(NM_005592.4):c.1927+50T>C - MUSK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1931T>C r.(?) p.(Val644Ala) Unknown - VUS g.113562589T>C g.110800309T>C MUSK(NM_005592.3):c.1931T>C (p.V644A), MUSK(NM_005592.4):c.1931T>C (p.(Val644Ala)) - MUSK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1931T>C r.(?) p.(Val644Ala) Parent #1 - VUS g.113562589T>C g.110800309T>C - - MUSK_000043 conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41279055 Germline - 19/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
-?/. - c.1931T>C r.(?) p.(Val644Ala) Unknown - likely benign g.113562589T>C - MUSK(NM_005592.3):c.1931T>C (p.V644A), MUSK(NM_005592.4):c.1931T>C (p.(Val644Ala)) - MUSK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.1941C>T r.(=) p.(=) Parent #1 - benign g.113562599C>T g.110800319C>T - - MUSK_000022 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1941C>T r.(?) p.(Val647=) Unknown - likely benign g.113562599C>T g.110800319C>T MUSK(NM_005592.3):c.1941C>T (p.V647=) - MUSK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1991A>G r.(?) p.(Asn664Ser) Unknown - likely benign g.113562649A>G g.110800369A>G MUSK(NM_001166280.1):c.1733A>G (p.(Asn578Ser)), MUSK(NM_005592.4):c.1991A>G (p.N664S) - MUSK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1991A>G r.(?) p.(Asn664Ser) Unknown - likely benign g.113562649A>G g.110800369A>G MUSK(NM_001166280.1):c.1733A>G (p.(Asn578Ser)), MUSK(NM_005592.4):c.1991A>G (p.N664S) - MUSK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.2002C>T r.(?) p.(Arg668Cys) Unknown - VUS g.113562660C>T g.110800380C>T - - MUSK_000009 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - France - - - - - 1 Damien Sternberg
+/. 15 c.2180C>T r.(?) p.(Ala727Val) Paternal (confirmed) - pathogenic g.113562838C>T g.110800558C>T A727V - MUSK_000014 - PubMed: Maselli 2010, Journal: Maselli 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Maselli 2010, Journal: Maselli 2010 2-generation family, patient and unaffected heterozygous carrier parents/sib F no United States - - - - - 1 Johan den Dunnen
?/. - c.2311C>T r.(?) p.(Pro771Ser) Unknown - VUS g.113562969C>T - MUSK(NM_005592.4):c.2311C>T (p.P771S) - MUSK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2331C>G r.(?) p.(Asn777Lys) Unknown - VUS g.113562989C>G - MUSK(NM_005592.4):c.2331C>G (p.(Asn777Lys)) - MUSK_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2357G>A r.(?) p.(Trp786*) Parent #2 - likely pathogenic g.113563015G>A g.110800735G>A - - MUSK_000049 - PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus M - France - - - - - 1 Johan den Dunnen
+/. 15 c.(2368G>A) r.(?) p.Val790Met Unknown - NA g.113563026G>A g.110800746G>A - - MUSK_000002 expression cloning in rat MUSK; MuSK catalytic kinase activity unaffected, reduced expression/stability MuSK with decreased agrin-dependent AChR aggregation PubMed: Chevessier 2004, OMIM:var0001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.2368G>A r.(?) p.(Val790Met) Maternal (confirmed) - pathogenic g.113563026G>A g.110800746G>A - - MUSK_000002 no variants CHRNE, RAPSN; not in 200 control chromosomes; mother and brother unaffected carrier PubMed: Chevessier 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ? - PubMed: Chevessier 2004 - F no (France) - >27y - - - 2 Johan den Dunnen
+/. 15 c.2368G>A r.(?) p.(Val790Met) Maternal (confirmed) - pathogenic g.113563026G>A g.110800746G>A - - MUSK_000002 no variants CHRNE, RAPSN; not in 200 control chromosomes PubMed: Chevessier 2004, OMIM:var0001 - - Germline - - - - - DNA SEQ - - ? - PubMed: Chevessier 2004 deceased older brother 15496425-Pat2 M no (France) - 1y6m - - - 1 Johan den Dunnen
+/. 15 c.2368G>A r.(?) p.(Val790Met) Maternal (confirmed) - pathogenic g.113563026G>A g.110800746G>A - - MUSK_000002 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - F - Italy - - - - - 1 Tom Winder
+/. 15 c.2368G>A r.(?) p.(Val790Met) Maternal (confirmed) - pathogenic g.113563026G>A g.110800746G>A - - MUSK_000002 - PubMed: Maggi 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Maggi 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents - no Italy - - - - - 2 Johan den Dunnen
?/. - c.2404C>T r.(?) p.(Pro802Ser) Unknown - VUS g.113563062C>T - MUSK(NM_005592.3):c.2404C>T (p.P802S) - MUSK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2485G>T r.(?) p.(Val829Leu) Unknown - likely benign g.113563143G>T - MUSK(NM_001166280.1):c.2227G>T (p.(Val743Leu)) - MUSK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.2503A>G r.(?) p.(Met835Val) Both (homozygous) - pathogenic g.113563161A>G g.110800881A>G - - MUSK_000016 not in 400 control chromosomes PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013 - - Germline - - - - - DNA SEQ - - ? - PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - - - - 1 Johan den Dunnen
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