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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIAS, LOC112939935
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIAS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
LIAS
(N101D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LIAS
(C111S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIAS
(M293V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIAS
(D302G +2 more)
Single nucleotide variant
(missense variant)
Lipoic acid synthetase deficiency
+1 more
GUncertain significance
LIAS
(F328Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
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