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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EARS2
(E349K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EARS2
(L345V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
EARS2
(G224S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
EARS2
(R162Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EARS2
(R108W)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+12 more
GPathogenic/Likely pathogenic
EARS2
(M94V)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
+3 more
GConflicting classifications of pathogenicity
EARS2
(A88E)
Indel
(missense variant +1 more)
not provided
GUncertain significance
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