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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
(splice donor variant)
Tangier disease
GLikely pathogenic
ABCA1
Single nucleotide variant
(intron variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(E669Q)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(S1042P)
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
(Y1921C)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+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)
not specified
+5 more
GConflicting classifications of pathogenicity
ABCA1
(V589I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(V464M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NIPSNAP3B, ABCA1
(K2040E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
(A1831V)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+3 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(R2200Q)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+3 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)
not specified
+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)
Tangier disease
+1 more
GUncertain significance
ABCA1, LOC105376196
Single nucleotide variant
(5 prime UTR variant)
Tangier disease
+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)
Tangier disease
+1 more
GUncertain significance
ABCA1
Single nucleotide variant
(synonymous variant)
Tangier disease
+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)
Hypoalphalipoproteinemia, primary, 1
+1 more
GBenign
ABCA1
(N1453D)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
ABCA1
(V1806M)
Single nucleotide variant
(missense variant)
Hypoalphalipoproteinemia, primary, 1
+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)
Tangier disease
+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)
Hypoalphalipoproteinemia, primary, 1
+1 more
GConflicting classifications of pathogenicity
ABCA1
(R565S)
Single nucleotide variant
(missense variant)
Tangier disease
+1 more
GConflicting classifications of pathogenicity
ABCA1, LOC121331340
(L1362F)
Single nucleotide variant
(missense variant)
Tangier disease
+2 more
GUncertain significance
ABCA1
Single nucleotide variant
(intron variant)
Tangier disease
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(intron variant)
not specified
+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
NIPSNAP3B, ABCA1
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)
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)
not provided
+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)
Tangier disease
+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
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)
Hypoalphalipoproteinemia, primary, 1
+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)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ABCA1
Single nucleotide variant
(synonymous variant)
Tangier disease
+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)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(A2028V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NIPSNAP3B, ABCA1
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)
Tangier disease
+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)
not provided
+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
+3 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
NIPSNAP3B, ABCA1
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)
Tangier disease
+1 more
GUncertain significance
ABCA1, NIPSNAP3B
Single nucleotide variant
(3 prime UTR variant)
Hypoalphalipoproteinemia, primary, 1
+1 more
GUncertain significance
NIPSNAP3B, ABCA1
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
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
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