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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEA1, PPP2R5D
(E198K +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+6 more
GPathogenic
MEA1, PPP2R5D
(L434V +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
MEA1, PPP2R5D
(A485V +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MEA1
(R178Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(R181W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(A139V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(P122A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(A111V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(E122D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(R102Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(V87A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(Q66R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(P77S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(T48M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(E60K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(Q40R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MEA1
(F17S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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