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Items: 14

  • The following term was not found in ClinVar: merxmuellera.
  • Showing results for Merxmuellera decora. Your search for Merxmuellera decora retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(R2286* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
SPG11
(E2134fs +1 more)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
SPG11
(R2031*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 11
+3 more
GPathogenic
SPG11
(R1824*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LOC130056971, SPG11
(F1752fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
LOC130056973, SPG11
(Q1436fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SPG11
(K1222fs)
Insertion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
SPG11
(L950fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(Q906fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SPG11
(S560*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SPG11
(D402fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
Deletion
(inframe_deletion)
Hereditary spastic paraplegia
GPathogenic
SPG11
(W89*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+2 more
GPathogenic
SPG11
Deletion
Hereditary spastic paraplegia
GPathogenic
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