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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC2
Single nucleotide variant
(3 prime UTR variant)
Niemann-Pick disease, type C1
+2 more
GBenign/Likely benign
NPC2
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
NPC2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC2
Single nucleotide variant
(3 prime UTR variant +1 more)
NPC2-related condition
+3 more
GConflicting classifications of pathogenicity
NPC2
Single nucleotide variant
(intron variant +1 more)
not specified
+3 more
GBenign/Likely benign
ACYP1, NPC2
(V148I)
Single nucleotide variant
(missense variant +2 more)
NPC2-related condition
+4 more
GConflicting classifications of pathogenicity
NPC2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NPC2
(E118K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC2
(D91N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NPC2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
+2 more
GConflicting classifications of pathogenicity
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
+1 more
GConflicting classifications of pathogenicity
NPC2
(K71R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
+3 more
GUncertain significance
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
+1 more
GConflicting classifications of pathogenicity
NPC2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ACYP1, NPC2
(V30M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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