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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NADSYN1
Single nucleotide variant
(splice acceptor variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GUncertain significance
HAAO
(I144T)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GUncertain significance
HAAO
(R175P)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GUncertain significance
HAAO, LOC129933588
(R8fs)
Deletion
(frameshift variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GLikely pathogenic
HAAO
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
(I37V)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
(T42S)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
Single nucleotide variant
(intron variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GBenign
HAAO
(R108Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HAAO
(G101W)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HAAO, LOC129933588
(R15fs)
Deletion
(frameshift variant)
Congenital NAD deficiency disorder
+1 more
GPathogenic
HAAO
(H47Q)
Single nucleotide variant
(missense variant)
Congenital NAD deficiency disorder
+1 more
GPathogenic
HAAO
(R43K)
Single nucleotide variant
(missense variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
+1 more
GConflicting classifications of pathogenicity
HAAO
Single nucleotide variant
(splice donor variant)
Vertebral, cardiac, renal, and limb defects syndrome 1
GLikely pathogenic
HAAO
(W186*)
Single nucleotide variant
(nonsense)
Vertebral, cardiac, renal, and limb defects syndrome 1
+1 more
GPathogenic
HAAO
(D162*)
Duplication
(nonsense)
Vertebral, cardiac, renal, and limb defects syndrome 1
+1 more
GPathogenic
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