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Links from MedGen

Items: 1 to 100 of 125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALOXE3
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 3
GLikely pathogenic
ALOXE3
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 3
GLikely pathogenic
ALOXE3
Microsatellite
(intron variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
LOC126862485, ALOXE3
Insertion
(inframe_insertion)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(R508* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 3
GLikely pathogenic
ALOXE3
(S477fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC126862485
(P11L)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GBenign
ALOXE3
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GBenign
ALOXE3
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GBenign
ALOXE3
(R238C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Deletion
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
(L400Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
(W387C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(C415R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(Q103P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(S645fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
(Q343P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALOXE3
(L307P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
Deletion
(inframe_indel)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(H430fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(Y277C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
(W353* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(E223* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(N603K +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(R133G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALOXE3, LOC126862485
(D152fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(L317fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC126862485
Deletion
(nonsense)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
Indel
(splice donor variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
Deletion
(splice acceptor variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(M601fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(C109* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
(F252fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
(S397F +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GPathogenic
ALOXE3
(Q651* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 3
GPathogenic
ALOXE3, LOC130060198
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(S477R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3
(V499G +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC126862485
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC126862485
(P144S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALOXE3
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(S532N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(C109R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(R138W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALOXE3
(P194L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC130060198
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3, LOC130060198
(H403R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 2
GLikely pathogenic
ALOXE3
(Y278* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 3
+1 more
GPathogenic
ALOXE3
Single nucleotide variant
(splice donor variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(R628W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ALOXE3, LOC126862485
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC126862485
(Q31H)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
ALOXE3, LOC126862485
(P33A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ALOXE3, LOC126862485
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive congenital ichthyosis 3
+2 more
GConflicting classifications of pathogenicity
ALOXE3, LOC126862485
(T44N)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC126862485
(C46Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC126862485
(R100G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive congenital ichthyosis 3
GBenign
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOXE3
(T217M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALOXE3
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GBenign
ALOXE3
(H399Y +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(V417I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3, LOC130060198
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOXE3
(I647V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GBenign
ALOXE3
(I519V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(intron variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(R566W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
(T701N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(synonymous variant)
Autosomal recessive congenital ichthyosis 3
GUncertain significance
ALOXE3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ALOXE3
(T624I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+2 more
GConflicting classifications of pathogenicity
ALOXE3
(R802W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive congenital ichthyosis 3
+1 more
GConflicting classifications of pathogenicity
ALOXE3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ALOXE3
(R678C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GBenign
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GLikely benign
ALOXE3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive congenital ichthyosis 3
GBenign
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