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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MN1
(W1301*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
+1 more
GConflicting classifications of pathogenicity
MN1
(R1295*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MN1
(Q1273*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic
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