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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPINK5
(E561G)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
+1 more
GUncertain significance
PLG
(K38E)
Single nucleotide variant
(missense variant)
Deep venous thrombosis
+2 more
GConflicting classifications of pathogenicity
PLG
(R261H)
Single nucleotide variant
(missense variant)
PLG-related disorder
+1 more
GConflicting classifications of pathogenicity
PLG
(D472N)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLG
(A494V)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLG
(I682N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
A2ML1, A2ML1-AS1
(Q4*)
Single nucleotide variant
(nonsense)
Otitis media, susceptibility to
GLikely pathogenic
A2ML1, A2ML1-AS1
(T55I)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
+1 more
GUncertain significance
A2ML1
Single nucleotide variant
(intron variant)
Otitis media, susceptibility to
+1 more
GConflicting classifications of pathogenicity
A2ML1
(Q436H)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(Q561H +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(L671P +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(R730H +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
+1 more
GUncertain significance
A2ML1
(F733L +1 more)
Single nucleotide variant
(missense variant)
A2ML1-related disorder
+3 more
GConflicting classifications of pathogenicity
A2ML1
(P743L +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(G777R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(D849Y +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
A2ML1
(A991P +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(A1164V +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
Single nucleotide variant
(splice donor variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLPI
Single nucleotide variant
(splice donor variant)
Otitis media, susceptibility to
GPathogenic
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