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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1
(A1164V +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(A991P +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(D849Y +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(P743L +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(R730H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(Q561H +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1, A2ML1-AS1
(T55I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(G777R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(L671P +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(Q436H)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
Single nucleotide variant
(intron variant)
Otitis media, susceptibility to
+1 more
GConflicting classifications of pathogenicity
A2ML1, A2ML1-AS1
(Q4*)
Single nucleotide variant
(nonsense)
Otitis media, susceptibility to
GLikely pathogenic
A2ML1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
A2ML1
(A1226fs +1 more)
Deletion
(frameshift variant)
not specified
+1 more
GBenign
A2ML1
(F733L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
A2ML1
Single nucleotide variant
(intron variant)
Otitis media, susceptibility to
+2 more
GConflicting classifications of pathogenicity
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