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Links from MedGen

Items: 1 to 100 of 295

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA1
Single nucleotide variant
(intron variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(E669Q)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(S1042P)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(M1665V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(Y1921C)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
(G2038E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ABCA1
(V1929F)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(R1195Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(K2019N)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(F409L)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(R282*)
Single nucleotide variant
(nonsense)
Hypoalphalipoproteinemia, primary, 1
+1 more
GLikely pathogenic
ABCA1
(R999C)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ABCA1
(V589I)
Single nucleotide variant
(missense variant)
Tangier disease
+2 more
GConflicting classifications of pathogenicity
ABCA1
(V464M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(K2040E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(A1831V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(R2200Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(intron variant)
Tangier disease
+1 more
GBenign
ABCA1, NIPSNAP3B
Single nucleotide variant
(intron variant)
Tangier disease
+1 more
GBenign
ABCA1
Single nucleotide variant
(intron variant)
Tangier disease
+3 more
GBenign/Likely benign
ABCA1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, LOC105376196
Single nucleotide variant
(5 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, LOC105376196
Single nucleotide variant
(5 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCA1
(I513V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(synonymous variant)
Hypoalphalipoproteinemia, primary, 1
+4 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(L1041V)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GBenign
ABCA1
(N1453D)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(V1806M)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
(G2147V)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GBenign/Likely benign
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
(I546V)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GConflicting classifications of pathogenicity
ABCA1
(R565S)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1, LOC121331340
(L1362F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
Tangier disease
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(intron variant)
Tangier disease
+2 more
GConflicting classifications of pathogenicity
ABCA1
(L1865V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(V1868I)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(synonymous variant)
Tangier disease
+3 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GUncertain significance
NIPSNAP3B, ABCA1
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GBenign/Likely benign
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(R126C)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+2 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GBenign/Likely benign
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, LOC105376196
+1 more
Single nucleotide variant
(intron variant)
Tangier disease
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(5 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(L184S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(Q188K)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(S364C)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(K401Q)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(synonymous variant)
Hypoalphalipoproteinemia, primary, 1
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCA1
(T1399M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCA1
Single nucleotide variant
(synonymous variant)
Hypoalphalipoproteinemia, primary, 1
+2 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(A2028V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+3 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(S420N)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(E432V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(D446E)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+4 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(synonymous variant)
Hypoalphalipoproteinemia, primary, 1
+3 more
GConflicting classifications of pathogenicity
ABCA1
(M968T)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+2 more
GConflicting classifications of pathogenicity
ABCA1
(N1185S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(I1239V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(P1442T)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(N1734S)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(I1749V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(intron variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GBenign
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Tangier disease
+1 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
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