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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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