U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC1
(R1266Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NPC1
(I1061T)
Single nucleotide variant
(missense variant)
NPC1-related condition
+5 more
GPathogenic
NPC1
(A1054T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GPathogenic
NPC1
(P1007A)
Single nucleotide variant
(missense variant)
NPC1-related condition
+10 more
GConflicting classifications of pathogenicity
NPC1
(G992R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
(G992R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(G992W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NPC1
(I858V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NPC1
(Q775P)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GPathogenic
NPC1
Single nucleotide variant
(no sequence alteration)
Niemann-Pick disease, type C1
Gnot provided
NPC1
(P237S)
Single nucleotide variant
(missense variant)
Nasopharyngeal carcinoma
+3 more
GConflicting classifications of pathogenicity
NPC1
(C177Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination