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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT2
Deletion
(inframe_deletion)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
(A238G +1 more)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
(Q226* +1 more)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
Single nucleotide variant
(splice donor variant)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
(K216* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
AGPAT2
Single nucleotide variant
(splice acceptor variant)
Congenital generalized lipodystrophy
+2 more
GPathogenic
AGPAT2
(D180fs)
Deletion
(frameshift variant +1 more)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
(E172K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
AGPAT2
Single nucleotide variant
(intron variant +1 more)
Congenital generalized lipodystrophy type 1
GPathogenic/Likely pathogenic
AGPAT2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AGPAT2
(P112L)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
GUncertain significance
AGPAT2
(S100N)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
GPathogenic
AGPAT2
(R68*)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 1
GPathogenic
AGPAT2
(W65*)
Single nucleotide variant
(nonsense)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
Single nucleotide variant
(splice acceptor variant)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
Single nucleotide variant
(splice donor variant)
Congenital generalized lipodystrophy type 1
Gnot provided
AGPAT2
Deletion
Congenital generalized lipodystrophy type 1
GPathogenic
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