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Links from MedGen

Items: 1 to 100 of 441

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
(G91*)
Single nucleotide variant
(nonsense)
Hereditary fructosuria
GPathogenic
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(M1L)
Single nucleotide variant
(missense variant +1 more)
Hereditary fructosuria
GLikely pathogenic
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
(Y138*)
Single nucleotide variant
(nonsense)
Hereditary fructosuria
GPathogenic
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(K13Q)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
GUncertain significance
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Duplication
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(L79fs)
Deletion
(frameshift variant)
Hereditary fructosuria
GPathogenic
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(C336fs)
Indel
(frameshift variant)
Hereditary fructosuria
GLikely pathogenic
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(R46fs)
Deletion
(frameshift variant)
Hereditary fructosuria
GPathogenic
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(splice donor variant)
Hereditary fructosuria
GLikely pathogenic
ALDOB
Single nucleotide variant
(splice acceptor variant)
Hereditary fructosuria
GLikely pathogenic
ALDOB
Single nucleotide variant
(splice donor variant)
Hereditary fructosuria
GLikely pathogenic
ALDOB
(C202*)
Single nucleotide variant
(nonsense)
Hereditary fructosuria
GLikely pathogenic
ALDOB
Single nucleotide variant
(splice acceptor variant)
Hereditary fructosuria
GLikely pathogenic
ALDOB
(Q248*)
Single nucleotide variant
(nonsense)
Hereditary fructosuria
GPathogenic/Likely pathogenic
ALDOB
(Q180*)
Single nucleotide variant
(nonsense)
Hereditary fructosuria
GPathogenic
ALDOB
Indel
(splice acceptor variant +1 more)
Hereditary fructosuria
GLikely pathogenic
ALDOB, LOC130002261
Copy number loss
Hereditary fructosuria
GPathogenic
ALDOB
(N26Y)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
GUncertain significance
ALDOB
Deletion
Hereditary fructosuria
GPathogenic
ZNF189, ALDOB
+6 more
Deletion
Hereditary fructosuria
GPathogenic
ALDOB
(I186V)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
+1 more
GUncertain significance
ALDOB
(A170T)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
GUncertain significance
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hereditary fructosuria
GLikely pathogenic
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GLikely benign
ALDOB
(L116F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(A114V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALDOB
Single nucleotide variant
(intron variant)
Hereditary fructosuria
GLikely benign
ALDOB
(M1R)
Single nucleotide variant
(missense variant +1 more)
Hereditary fructosuria
GLikely pathogenic
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