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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC1
(I1061T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+5 more
GPathogenic
NPC1
(R958*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C1
+3 more
GPathogenic
NPC1
(Q905*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C1
GPathogenic/Likely pathogenic
NPC1
(P691Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GLikely pathogenic
NPC1
(S151fs)
Microsatellite
(frameshift variant)
Niemann-Pick disease, type C
+2 more
GPathogenic/Likely pathogenic
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