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Items: 9

  • The following term was not found in ClinVar: aechmea.
  • Showing results for Aechmea muricata. Your search for Aechmea muricata retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(Q397* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MLH1
(R489L +5 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126859861, PLG
(A620T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(H64R)
Single nucleotide variant
(missense variant)
Hemoglobinopathy
+1 more
GConflicting classifications of pathogenicity
CREBBP
(G1431fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(R1378P +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
PLEKHG4
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 31
GUncertain significance
GP1BA
(G249V)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GPathogenic/Likely pathogenic
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