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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA1, NIPSNAP3B
(Q2196H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(S2186F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
NIPSNAP3B, ABCA1
(R2173W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1, NIPSNAP3B
(L2068M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(R1851Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(I1749V)
Single nucleotide variant
(missense variant)
Tangier disease
+2 more
GConflicting classifications of pathogenicity
ABCA1
(I1697V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(R1680Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(R1572L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(P1461S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ABCA1
(G1346E)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+3 more
GConflicting classifications of pathogenicity
ABCA1
(S1181F)
Single nucleotide variant
(missense variant)
Tangier disease
+4 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(D1018G)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCA1
(M968T)
Single nucleotide variant
(missense variant)
Tangier disease
+2 more
GConflicting classifications of pathogenicity
ABCA1
(E815G)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCA1
Microsatellite
(splice acceptor variant)
not provided
GUncertain significance
ABCA1
(V771L)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+2 more
GConflicting classifications of pathogenicity
ABCA1
(R666Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCA1
(V617S)
Indel
(missense variant)
not provided
GUncertain significance
ABCA1
(W590S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCA1
(T389P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(I204F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(V149G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1
(P85L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCA1
(P85S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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