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Links from MedGen

Items: 1 to 100 of 236

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC2
(G152W)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(G153C)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(A5fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GPathogenic
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(G153A)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(I34V)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(G32R)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(M1K)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GPathogenic
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(S151P)
Single nucleotide variant
(intron variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(splice donor variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Deletion
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(T44fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GPathogenic
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(T44fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GPathogenic
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(splice donor variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(P120T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(Q23*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(S40*)
Microsatellite
(nonsense)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
+1 more
GLikely benign
NPC2
Deletion
Niemann-Pick disease, type C2
GPathogenic
NPC2
Deletion
Niemann-Pick disease, type C2
GPathogenic
NPC2
(V81I)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(K68L)
Inversion
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(G152R)
Single nucleotide variant
(intron variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(L49P)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(P21Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(I101M)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(V125L)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(C99F)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(K134Q)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(M1R)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GPathogenic
NPC2
(V73M)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(3 prime UTR variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(S54C)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(L78V)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(L130F)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(A5T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
(I87F)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C2
GUncertain significance
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(L150P)
Single nucleotide variant
(intron variant +1 more)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type C2
GPathogenic
NPC2
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C2
GLikely benign
NPC2
(D31fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(S50fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(V73fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(G52*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C2
GLikely pathogenic
NPC2
(T62fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C2
GLikely pathogenic
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