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Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC1
(R1274W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
Single nucleotide variant
(synonymous variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
(E1271A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
(E1271Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GUncertain significance
NPC1
(R1266Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NPC1
(E1265V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NPC1
(A1262fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
NPC1
(A1258V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
(P1245fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(synonymous variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NPC1
(F1224C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NPC1
(F1221S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
(T1205K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
NPC1
(S1200G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPC1
Microsatellite
(intron variant)
not provided
+1 more
GUncertain significance
NPC1
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
(A1192fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C
+2 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(synonymous variant)
NPC1-related condition
+4 more
GConflicting classifications of pathogenicity
NPC1
(A1187V)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+3 more
GUncertain significance
NPC1
(A1187T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
(R1186H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(R1186C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NPC1
(V1184M)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GUncertain significance
NPC1
(R1183H)
Single nucleotide variant
(missense variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
(M1179V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NPC1
Single nucleotide variant
(synonymous variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
(C1168Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
(E1166K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
(V1165M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
(C1161S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
Single nucleotide variant
(intron variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
NPC1
(A1151T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
+1 more
GConflicting classifications of pathogenicity
NPC1
(W1122R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
(V1115F)
Single nucleotide variant
(missense variant)
NPC1-related condition
+3 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
(D1097N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(intron variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NPC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NPC1
(R1077*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NPC1
(G1073S)
Single nucleotide variant
(missense variant)
NPC1-related condition
+3 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NPC1
(I1061T)
Single nucleotide variant
(missense variant)
NPC1-related condition
+5 more
GPathogenic
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
+2 more
GConflicting classifications of pathogenicity
NPC1
(I1052T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
(V1044M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
(T1036M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPC1
(A1035V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
(S1020T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
(P1007A)
Single nucleotide variant
(missense variant)
NPC1-related condition
+10 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
(S1004L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPC1
(G992W)
Indel
(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
(P981L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
(R978C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(intron variant)
NPC1-related condition
+2 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
+2 more
GUncertain significance
NPC1
(N961S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
NPC1
(R958*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C1
+3 more
GPathogenic
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
(K951Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPC1
(D944N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
+1 more
GConflicting classifications of pathogenicity
NPC1
(S940L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
+1 more
GConflicting classifications of pathogenicity
NPC1
(R934L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
NPC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
NPC1
(N916S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
(G911S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NPC1
(D874V)
Single nucleotide variant
(missense variant)
NPC1-related condition
+4 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
(M866I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPC1
(I858V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NPC1
(F842L)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+2 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
NPC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPC1
(I837T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GUncertain significance
NPC1
(M834T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPC1
(Y825C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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