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Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+3 more
GConflicting classifications of pathogenicity
LIPC
(R344Q)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GUncertain significance
LIPC
(G118E)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GUncertain significance
LIPC
(A126D)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GUncertain significance
LIPC
(V342I)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GUncertain significance
LIPC
(R225Q)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LIPC
Variation
(no sequence alteration)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GPathogenic
LIPC
(I263V)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(G411V)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
(R135C)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
(A105V)
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
GLikely benign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(L23F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
(R329H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LIPC
(C316F)
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/Likely benign
LIPC
(C277R)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(L474P)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(D472V)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GConflicting classifications of pathogenicity
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GConflicting classifications of pathogenicity
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GBenign/Likely benign
LIPC
(V425L)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LIPC
(D409A)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+2 more
GConflicting classifications of pathogenicity
LIPC
(G247fs)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LIPC
(R477H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LIPC
(G411S)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LIPC
(F356L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LIPC
(Q355R)
Single nucleotide variant
(missense variant)
High density lipoprotein cholesterol level quantitative trait locus 12
+3 more
GBenign/Likely benign
LIPC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LIPC
Microsatellite
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(R333Q)
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
GUncertain significance
LIPC
(G247R)
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
(N215S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIPC
Single nucleotide variant
(intron variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LIPC
(S154Y)
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
(A106T)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GUncertain significance
LIPC
(V95M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LIPC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LIPC
(P69L)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
+1 more
GUncertain significance
LIPC
(A195T)
Single nucleotide variant
(missense variant)
Hyperlipidemia due to hepatic triglyceride lipase deficiency
GPathogenic
LIPC
(S289F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIPC
(T405M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
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