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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LPL
(I376fs)
Deletion
(frameshift variant)
Hyperlipidemia, familial combined, LPL related
GPathogenic
LPL
(K129fs)
Deletion
(frameshift variant)
Hyperlipidemia, familial combined, LPL related
GLikely pathogenic
LPL
(K472Q)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+1 more
GUncertain significance
LPL
(A460V)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+2 more
GConflicting classifications of pathogenicity
LPL
(Y289*)
Single nucleotide variant
(nonsense)
Hyperlipidemia, familial combined, LPL related
GLikely pathogenic
LPL
(C305S)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+1 more
GConflicting classifications of pathogenicity
LPL
(K129T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LPL
(M328I)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+1 more
GPathogenic/Likely pathogenic
LPL
(A288P)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+1 more
GConflicting classifications of pathogenicity
LPL
(D231N)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
GPathogenic
LPL
Single nucleotide variant
(splice donor variant)
Hyperlipidemia, familial combined, LPL related
GPathogenic
LPL
(G436R)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
GLikely pathogenic
LPL
(A125T)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type I
+2 more
GUncertain significance
LPL
(V230fs)
Deletion
(frameshift variant)
Hyperlipidemia, familial combined, LPL related
+2 more
GPathogenic/Likely pathogenic
LPL
(N375D)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type I
+2 more
GUncertain significance
LPL
(G81D)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+2 more
GPathogenic/Likely pathogenic
LPL
(S124P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LPL
(E295D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LPL
(A98T)
Single nucleotide variant
(missense variant)
LPL-related disorder
+4 more
GConflicting classifications of pathogenicity
LPL
Single nucleotide variant
(intron variant)
Hyperlipidemia, familial combined, LPL related
+3 more
GBenign/Likely benign
LPL
(D183N)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type I
+2 more
GPathogenic/Likely pathogenic
LPL
(K406*)
Single nucleotide variant
(nonsense)
Hyperlipidemia, familial combined, LPL related
+1 more
GConflicting classifications of pathogenicity
LPL
(H268Q)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
GUncertain significance
LPL
(C310Y)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
GLikely pathogenic
LPL
(L279V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic
LPL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
LPL
(V442G)
Single nucleotide variant
(missense variant)
LPL-related disorder
+5 more
GConflicting classifications of pathogenicity
LPL
(R333H)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type I
+3 more
GConflicting classifications of pathogenicity
LPL
(R197H)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+3 more
GConflicting classifications of pathogenicity
LPL
(C302R)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
GLikely pathogenic
LPL
(N318S)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+4 more
GConflicting classifications of pathogenicity
LPL
(A361T)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
GPathogenic
LPL
(W91*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LPL
(W113R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
LPL
(D277N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LPL
(W409*)
Single nucleotide variant
(nonsense)
Hyperlipoproteinemia, type I
+1 more
GPathogenic
LPL
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+2 more
GPathogenic
LPL
(S474*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+5 more
GBenign
LPL
(R270H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LPL
(I221T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LPL
(P234L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
LPL
(G215E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
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