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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KYNU
(F289L)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
GUncertain significance
KYNU
Deletion
Vertebral, cardiac, renal, and limb defects syndrome 2
GPathogenic
KYNU
Single nucleotide variant
(splice donor variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
GLikely pathogenic
KYNU
(T152M)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GUncertain significance
KYNU
(Y86fs)
Duplication
(frameshift variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GPathogenic/Likely pathogenic
KYNU
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+1 more
GBenign
KYNU
(F349fs)
Deletion
(frameshift variant)
Vertebral, cardiac, renal, and limb defects syndrome 2
+2 more
GPathogenic
KYNU
(Y156*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KYNU
Single nucleotide variant
(splice acceptor variant)
Congenital NAD deficiency disorder
GPathogenic
KYNU
(R188Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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