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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS11
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
VPS11
Single nucleotide variant
(synonymous variant +1 more)
Hypomyelinating leukodystrophy 12
+1 more
GBenign
LOC130006887, VPS11
(P46S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Dystonia 32
GPathogenic
VPS11
(R537H +4 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 32
+2 more
GUncertain significance
VPS11
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
VPS11
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GBenign
VPS11
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
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