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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLF11
(G8D)
Single nucleotide variant
(missense variant)
Hyperglycemia
+1 more
GUncertain significance
ABCC8
(V1173M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Transitory neonatal diabetes mellitus
+2 more
GUncertain significance
ABCC8
(G342W +1 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+13 more
GConflicting classifications of pathogenicity
HNF1A
(Q548R)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GLikely pathogenic
HNF4A
(R136Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance/Uncertain risk allele
HNF4A
(L319del +3 more)
Microsatellite
(inframe_deletion)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
+2 more
GUncertain significance
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