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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADPRS
(K213fs)
Deletion
(frameshift variant)
Abdominal distention
+8 more
GUncertain significance
PLD3, PRX
(K1127*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+3 more
GPathogenic/Likely pathogenic
ITPR1
(S811F +1 more)
Single nucleotide variant
(missense variant)
Movement disorder
+3 more
GUncertain significance
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