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Links from MedGen

Items: 1 to 100 of 2261

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Duplication
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Microsatellite
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Microsatellite
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Microsatellite
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Deletion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(L1191V)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GLikely pathogenic
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(F842S)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GLikely pathogenic
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Duplication
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Deletion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(T303S)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GUncertain significance
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(D948E)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GLikely pathogenic
NPC1
Microsatellite
(splice donor variant)
Niemann-Pick disease, type C1
GPathogenic
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(M642I)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GBenign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(S865T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GLikely pathogenic
NPC1
Duplication
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Deletion
(intron variant)
Niemann-Pick disease, type C1
GBenign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
Niemann-Pick disease, type C1
GLikely benign
NPC1
Microsatellite
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
NPC1-related disorder
+1 more
GLikely benign
NPC1
(D211N)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GUncertain significance
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(W544*)
Single nucleotide variant
(nonsense)
Niemann-Pick disease, type C1
GPathogenic
NPC1
Deletion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Microsatellite
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Microsatellite
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Deletion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
NPC1-related disorder
+1 more
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(F779fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C1
GPathogenic
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Duplication
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
(N1156T)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C1
GLikely pathogenic
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Duplication
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Insertion
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type C1
GLikely benign
NPC1
Single nucleotide variant
(synonymous variant)
Niemann-Pick disease, type C1
GLikely benign
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