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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC1
(L1244P)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GLikely pathogenic
NPC1
(F760del)
Deletion
(inframe_deletion)
Niemann-Pick disease, type C
GPathogenic
NPC1
(G1240R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
GLikely pathogenic
NPC1
Single nucleotide variant
(splice donor variant)
Niemann-Pick disease, type C
GLikely pathogenic
NPC1
(G992A)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
(G1034R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GLikely pathogenic
NPC1
(L1213V)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+2 more
GPathogenic/Likely pathogenic
NPC1
(G1162A)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
GLikely pathogenic
NPC1
(A1108fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(Q710fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC1
(R348*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC1
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
Duplication
Niemann-Pick disease, type C
GLikely pathogenic
NPC1
(L1117fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C
GPathogenic
NPC2
(K94*)
Duplication
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(R372W)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
(P691Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GLikely pathogenic
NPC1
(A34fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(R934*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
NPC1
(R389C)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GConflicting classifications of pathogenicity
NPC1
(R1077Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GConflicting classifications of pathogenicity
NPC1
(Q438*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
(N1137fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
Deletion
(splice acceptor variant +1 more)
Niemann-Pick disease, type C
GLikely pathogenic
NPC1
(R615C)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GPathogenic/Likely pathogenic
NPC1
(V1212L)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(S151fs)
Microsatellite
(frameshift variant)
Niemann-Pick disease, type C
+2 more
GPathogenic/Likely pathogenic
NPC1
(F1167C)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
(P543fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
NPC1
(F1087L)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(E451K)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
(N968S)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
(Y634C)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
(D948N)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(R518W)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(D945N)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
(T1205R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(K142fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C
+2 more
GPathogenic
NPC1
(Y890*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(L1248fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(T137M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPC1
(I271del)
Microsatellite
(inframe_deletion)
Niemann-Pick disease, type C
+2 more
GConflicting classifications of pathogenicity
NPC1
(D325fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C
+2 more
GPathogenic
NPC1
(A1192fs)
Duplication
(frameshift variant)
Niemann-Pick disease, type C
+2 more
GPathogenic/Likely pathogenic
NPC1
(S734I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(Y571fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
(F284fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC1
(E1189G)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
(V664M)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GPathogenic/Likely pathogenic
NPC1
(P132fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic/Likely pathogenic
NPC1
(Q119fs)
Microsatellite
(frameshift variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic
NPC1
Single nucleotide variant
Niemann-Pick disease, type C
GUncertain significance
NPC1
Single nucleotide variant
Niemann-Pick disease, type C
+2 more
GBenign/Likely benign
NPC1
Single nucleotide variant
Niemann-Pick disease, type C
+1 more
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
Duplication
(intron variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C
+1 more
GConflicting classifications of pathogenicity
NPC1
Insertion
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPC1
Microsatellite
(intron variant)
NPC1-related disorder
+2 more
GConflicting classifications of pathogenicity
NPC1
Deletion
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPC1
Single nucleotide variant
(3 prime UTR variant)
Niemann-Pick disease, type C
GUncertain significance
NPC1, RMC1
Duplication
(3 prime UTR variant)
Niemann-Pick disease, type C
GUncertain significance
LOC130056094, NPC2
Single nucleotide variant
(5 prime UTR variant)
Niemann-Pick disease, type C
GUncertain significance
LOC130056094, NPC2
Single nucleotide variant
(5 prime UTR variant)
Niemann-Pick disease, type C
GUncertain significance
NPC1
(R958*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C1
+3 more
GPathogenic
NPC1
Single nucleotide variant
(intron variant)
NPC1-related disorder
+3 more
GConflicting classifications of pathogenicity
NPC1
(R607*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+3 more
GPathogenic
NPC1
(D874V)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+4 more
GPathogenic/Likely pathogenic
NPC1
(R1186H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(Q991fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C1
+3 more
GConflicting classifications of pathogenicity
NPC1
(Q921*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
NPC1
(R404Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GPathogenic
NPC1
(R1059*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(T1205K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
NPC1
(S940L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(S954L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
NPC1
(P543L)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(R518Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC2
(C99R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC2
(Q45*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
G6PD
(L342F +1 more)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+3 more
GConflicting classifications of pathogenicity
NPC2
(Q146*)
Single nucleotide variant
(nonsense +1 more)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC2
(E118*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C
+1 more
GPathogenic
NPC2
(E20*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
NPC1
(L1204fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C1
+2 more
GPathogenic/Likely pathogenic
NPC1
(C113R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(F1221fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C1
+1 more
GPathogenic
NPC1
(R978C)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+2 more
GPathogenic/Likely pathogenic
NPC1
Single nucleotide variant
(splice donor variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
NPC1
(G992R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPC1
(I1061T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+5 more
GPathogenic
NPC1
(P1007A)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+10 more
GConflicting classifications of pathogenicity
NPC1
(N1156S)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GPathogenic
NPC1
(T1036M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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