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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
Deletion
(splice acceptor variant)
Maturity onset diabetes mellitus in young
GUncertain significance
ABCD1
(W664*)
Single nucleotide variant
(nonsense)
Adrenoleukodystrophy
GPathogenic
GCK
(S383L +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(L30P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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