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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA1
(V1929F)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(M1665V)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(S1181F)
Single nucleotide variant
(missense variant)
Tangier disease
+4 more
GConflicting classifications of pathogenicity
ABCA1
(S1042P)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(N935D)
Single nucleotide variant
(missense variant)
Tangier disease
GLikely pathogenic
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