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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ4
(R240C +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cerebellar ataxia
+5 more
GPathogenic
NPC1
(P474L)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+6 more
GPathogenic
NPC1
(P1007A)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
+10 more
GConflicting classifications of pathogenicity
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