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Items: 1 to 100 of 294

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
IRX5, IRX6
+189 more
Deletion
not provided
GPathogenic
ADGRG1, ADGRG3
+244 more
Copy number loss
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
CETP
Single nucleotide variant
High density lipoprotein cholesterol level quantitative trait locus 10
Gassociation
CETP
Single nucleotide variant
Hyperalphalipoproteinemia 1
+1 more
GBenign
CETP
(V6D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CETP
(T8I)
Single nucleotide variant
(missense variant)
Hyperalphalipoproteinemia 1
GUncertain significance
CETP
(A15S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(A15V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CETP
(A15G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CETP
Single nucleotide variant
(synonymous variant)
Hyperalphalipoproteinemia 1
+1 more
GBenign/Likely benign
CETP
(S23L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(E25K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CETP
Single nucleotide variant
(synonymous variant)
Hyperalphalipoproteinemia 1
+1 more
GBenign
CETP
(V29M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(C30Y)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CETP
(R31C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(R31H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CETP
Deletion
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
(H42Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(R54*)
Single nucleotide variant
(nonsense)
Hyperalphalipoproteinemia 1
GLikely pathogenic
CETP
(S56fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CETP
(T61M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CETP
(K64R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(A65P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(M67K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(V72L)
Single nucleotide variant
(missense variant)
Hyperalphalipoproteinemia 1
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
(Q80R)
Single nucleotide variant
(missense variant)
Hyperalphalipoproteinemia 1
GUncertain significance
CETP
(I81N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(A87S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(A87T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(S89fs)
Deletion
(frameshift variant)
Hyperalphalipoproteinemia 1
GLikely pathogenic
CETP
(Q90K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(Q90*)
Single nucleotide variant
(nonsense)
Hyperalphalipoproteinemia 1
GPathogenic
CETP
(S98C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(Q104R)
Single nucleotide variant
(missense variant)
Hyperalphalipoproteinemia 1
+1 more
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CETP
(N105S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CETP
(V106M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CETP
(T113S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(T120A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
(Q128L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(D131N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CETP
(T147P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
Duplication
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
(C148Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CETP
Single nucleotide variant
(synonymous variant)
CETP-related disorder
GLikely benign
CETP
(G151S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
(V153G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CETP
(R154W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CETP
(R154Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
(D156N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
CETP
(E174K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
See cases
GUncertain significance
CETP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GBenign
CETP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CETP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
Hyperalphalipoproteinemia 1
+1 more
GBenign/Likely benign
CETP
(Q182*)
Single nucleotide variant
(nonsense)
Hyperalphalipoproteinemia 1
GUncertain significance
CETP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CETP
(I188V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CETP, LOC130059064
(Q199L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CETP, LOC130059064
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
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