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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAGED2
(A150E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MAGED2
(E187D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MAGED2
Single nucleotide variant
(synonymous variant)
MAGED2-related disorder
GLikely benign
MAGED2
Single nucleotide variant
(synonymous variant)
MAGED2-related disorder
+2 more
GBenign/Likely benign
MAGED2
(E312*)
Single nucleotide variant
(nonsense)
MAGED2-related disorder
GLikely pathogenic
MAGED2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MAGED2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
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