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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(R397L +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(A378V +4 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GPathogenic
GCK
Single nucleotide variant
(splice donor variant +1 more)
Monogenic diabetes
GPathogenic
GCK
(G264S +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(T228M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(M210K +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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