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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCAT
(P278S)
Single nucleotide variant
(missense variant)
Norum disease
+1 more
GUncertain significance
LCAT
(T358M)
Single nucleotide variant
(missense variant)
Norum disease
+2 more
GUncertain significance
LCAT, SLC12A4
(T37M)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LCAT
(G398R)
Single nucleotide variant
(missense variant)
Norum disease
+3 more
GUncertain significance
LCAT
(V341M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LCAT, SLC12A4
(T12M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LCAT
(V114M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
LCAT
(G128S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LCAT
(E161K)
Single nucleotide variant
(missense variant)
Norum disease
+2 more
GUncertain significance
LCAT
(S232T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
LCAT
(R123C)
Single nucleotide variant
(missense variant)
Fish-eye disease
+2 more
GLikely pathogenic
LCAT
Single nucleotide variant
(synonymous variant)
Norum disease
+4 more
GBenign
LCAT
Single nucleotide variant
(intron variant)
Fish-eye disease
GPathogenic
LCAT
(N155D)
Single nucleotide variant
(missense variant)
Fish-eye disease
GPathogenic
LCAT
(L325del)
Microsatellite
(inframe_deletion)
Fish-eye disease
GPathogenic
LCAT
(Y107*)
Single nucleotide variant
(nonsense)
Fish-eye disease
+1 more
GPathogenic
LCAT
(T371M)
Single nucleotide variant
(missense variant)
Fish-eye disease
GPathogenic
LCAT, SLC12A4
(P34L)
Single nucleotide variant
(missense variant +1 more)
Fish-eye disease
+1 more
GPathogenic
LCAT
(T147I)
Single nucleotide variant
(missense variant)
Norum disease
+2 more
GPathogenic
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