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Items: 1 to 100 of 259

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPC
Single nucleotide variant
(genic upstream transcript variant)
High density lipoprotein cholesterol level quantitative trait locus 12
Gassociation
LIPC
Single nucleotide variant
not provided
GBenign
LIPC
(D2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(S4R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(L12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(L23F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
(S26R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LIPC
(F32C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(A36D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(H46R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(M48V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(M48R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
(F55L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(R65*)
Single nucleotide variant
(nonsense)
Type 2 diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
LIPC
(I66V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(P69L)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GConflicting classifications of pathogenicity
LIPC
(D70G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GBenign/Likely benign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(G76C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LIPC
(H88Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LIPC
(S91L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(G94S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(V95L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(V95M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LIPC
(M103T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(A105V)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
(A106T)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(A106V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(P111L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LIPC
(P114T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(V117M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(G118E)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GUncertain significance
LIPC
(L125P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(A126D)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(D128Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(R135C)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
(R135H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
(T137N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(R138C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(A145T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LIPC
(A145V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPC
(S154Y)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(G166A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(V173M)
Single nucleotide variant
(missense variant)
High density lipoprotein cholesterol level quantitative trait locus 12
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(G178S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
(S179N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPC
(G182S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
(T184M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
(H185R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LIPC
(I187F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GBenign/Likely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
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