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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
(F624L)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ABCG5, DYNC2LI1
(M622V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
ABCG5, DYNC2LI1
(Q604E)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia 1
+4 more
GBenign/Likely benign
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(G582R)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia 2
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(N578S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ABCG5, DYNC2LI1
(C571R)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia
+1 more
GUncertain significance
ABCG5, DYNC2LI1
(K569N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DYNC2LI1, ABCG5
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
(G541W)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(V524I)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia 1
+3 more
GUncertain significance
ABCG5, DYNC2LI1
(I523V)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia 1
+5 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(H510N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
DYNC2LI1, ABCG5
(H510D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(R498*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia 1
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(S453T)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia
+1 more
GUncertain significance
ABCG5, DYNC2LI1
(E452Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia
+2 more
GBenign/Likely benign
ABCG5, DYNC2LI1
(N440K)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ABCG5, DYNC2LI1
(R419C)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia 1
+5 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(L391F)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
ABCG5, DYNC2LI1
(V370I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
(F356L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
(M353I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
ABCG5, DYNC2LI1
(F284L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia 1
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(R253H)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia
+3 more
GUncertain significance
ABCG5, DYNC2LI1
(Q251E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia 1
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(T220A)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
DYNC2LI1, ABCG5
(R200Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Sitosterolemia 2
+2 more
GUncertain significance
ABCG5, DYNC2LI1
(R200G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Sitosterolemia 2
+1 more
GUncertain significance
DYNC2LI1, ABCG5
(R199C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
(R198Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(V171I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Sitosterolemia 1
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(3 prime UTR variant +1 more)
Sitosterolemia
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Microsatellite
(3 prime UTR variant +1 more)
not provided
GUncertain significance
ABCG5
Duplication
(intron variant)
not specified
+2 more
GBenign/Likely benign
ABCG5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ABCG5
(V144A)
Single nucleotide variant
(missense variant)
Sitosterolemia 2
+4 more
GUncertain significance
ABCG5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ABCG5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ABCG5
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ABCG5
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ABCG5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCG5
(Y131C)
Single nucleotide variant
(missense variant)
Sitosterolemia
+2 more
GUncertain significance
ABCG5
(R122Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG5
(F109L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ABCG5
Single nucleotide variant
(synonymous variant)
Sitosterolemia
+2 more
GConflicting classifications of pathogenicity
ABCG5
(A98G)
Single nucleotide variant
(missense variant)
ABCG5-related condition
+6 more
GConflicting classifications of pathogenicity
ABCG5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCG5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCG5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ABCG5
(G79R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCG5
(L74V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG5
(R61W)
Single nucleotide variant
(missense variant)
Sitosterolemia
+3 more
GUncertain significance
ABCG5, ABCG8
(R50C)
Single nucleotide variant
(missense variant)
ABCG5-related condition
+5 more
GBenign/Likely benign
ABCG5
(V47I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ABCG5
(L38V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ABCG5
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCG5
(P33R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCG5
(P29L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG5
(G27A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ABCG5
(V17G)
Single nucleotide variant
(missense variant)
ABCG5-related condition
+3 more
GConflicting classifications of pathogenicity
ABCG5
(L15V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ABCG5
(G10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG5, ABCG8
Single nucleotide variant
(5 prime UTR variant)
Sitosterolemia 1
+3 more
GBenign
ABCG5, ABCG8
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
ABCG5, ABCG8
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ABCG5, ABCG8
(E7D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG5, ABCG8
(P12L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCG5, ABCG8
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ABCG5, ABCG8
(D19H)
Single nucleotide variant
(missense variant)
ABCG8-related condition
+6 more
GBenign/Likely benign; association
ABCG5, ABCG8
Deletion
(splice donor variant)
not provided
GLikely pathogenic
ABCG5, ABCG8
(S21L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
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