ClinVar Miner

Variants in gene MUSK with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
121 17 0 12 14 1 4 24

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 2 2 1 1 1
likely pathogenic 1 0 2 0 0 0
uncertain significance 1 2 0 8 11 0
likely benign 0 0 8 0 10 0
benign 0 0 11 10 0 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His) rs79843573
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055
NM_005592.4(MUSK):c.1941C>T (p.Val647=) rs200312379
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005592.4(MUSK):c.486+7G>C rs187497836
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404
NM_005592.4(MUSK):c.80-8C>T rs199705752
Single allele

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