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Items: 9

  • The following term was not found in ClinVar: lembckei.
  • Showing results for Parodia lembckei. Your search for Parodia lembckei retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(I311M +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GConflicting classifications of pathogenicity
SPAST
(E356K +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+2 more
GPathogenic/Likely pathogenic
SPAST
Single nucleotide variant
(splice acceptor variant)
SPAST-related disorder
GLikely pathogenic
SPAST
(P374S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAST
(G352R +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GUncertain significance
SPAST
(G352E +3 more)
Single nucleotide variant
(missense variant)
SPAST-related disorder
GLikely pathogenic
SPAST
(D542G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
SPAST
(N579H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
PHOX2B
(G239fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
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