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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC2LI1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ABCG5, DYNC2LI1
(F624L)
Single nucleotide variant
(missense variant +1 more)
Thrombocytopenia
+4 more
GUncertain significance
DYNC2LI1, ABCG5
(M622V)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia 2
+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)
not specified
+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)
Cardiovascular phenotype
+2 more
GUncertain significance
ABCG5, DYNC2LI1
(C571R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
(K569N)
Single nucleotide variant
(missense variant +1 more)
not provided
+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)
not provided
+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)
not provided
+3 more
GUncertain significance
ABCG5, DYNC2LI1
(H510D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+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
DYNC2LI1, ABCG5
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 provided
+3 more
GConflicting classifications of pathogenicity
DYNC2LI1, ABCG5
(S453T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
(E452Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ABCG5, DYNC2LI1
(N440K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
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)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
DYNC2LI1, ABCG5
(R419C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(L391F)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
DYNC2LI1, ABCG5
(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
DYNC2LI1, ABCG5
(M353I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYNC2LI1, ABCG5
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
DYNC2LI1, ABCG5
(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)
ABCG5-related condition
+3 more
GConflicting classifications of pathogenicity
DYNC2LI1, ABCG5
Single nucleotide variant
(synonymous variant +1 more)
Sitosterolemia 1
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(R253H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+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
DYNC2LI1, ABCG5
(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
ABCG5, DYNC2LI1
(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)
not provided
+1 more
GUncertain significance
ABCG5, DYNC2LI1
(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)
Sitosterolemia 1
+5 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
(V171I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCG5, DYNC2LI1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DYNC2LI1, ABCG5
Microsatellite
(3 prime UTR variant +1 more)
not provided
GUncertain significance
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