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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC2
(E118*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC2
(N111fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(C99R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC2
(S67P)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GPathogenic
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GConflicting classifications of pathogenicity
NPC2
(C47*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
NPC2
(Q45*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC2
(V39M)
Single nucleotide variant
(missense variant)
NPC2-related condition
+1 more
GUncertain significance
NPC2
(E20*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC2
(L10fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GPathogenic
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