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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(S361L +4 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
GUncertain significance
GCK
(Q99fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GCK
(D42H +2 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance/Uncertain risk allele
GCK
Single nucleotide variant
(5 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
ABCC8
Microsatellite
(inframe_insertion +1 more)
Maturity onset diabetes mellitus in young
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ABCC8
(S63I)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
GUncertain significance
HNF1A
(T539fs +1 more)
Deletion
(frameshift variant)
Maturity onset diabetes mellitus in young
GLikely pathogenic
HNF4A
(V103L +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
HNF4A
(Q164H +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
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