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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LPIN2
(D891N)
Single nucleotide variant
(missense variant)
LPIN2-related disorder
+3 more
GConflicting classifications of pathogenicity
LPIN2
Single nucleotide variant
(synonymous variant)
Majeed syndrome
+3 more
GConflicting classifications of pathogenicity
LPIN2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
LPIN2
(S579P)
Single nucleotide variant
(missense variant)
Majeed syndrome
+3 more
GBenign/Likely benign
LPIN2
(L504F)
Single nucleotide variant
(missense variant)
Majeed syndrome
+4 more
GConflicting classifications of pathogenicity
LPIN2
Single nucleotide variant
(intron variant)
LPIN2-related disorder
+4 more
GConflicting classifications of pathogenicity
LPIN2
Deletion
(intron variant)
Autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
LPIN2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LPIN2
(P348L)
Single nucleotide variant
(missense variant)
Majeed syndrome
+2 more
GBenign/Likely benign
LPIN2
(I69T)
Single nucleotide variant
(missense variant)
Majeed syndrome
GUncertain significance
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