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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH3
(Q701fs)
Duplication
(frameshift variant +1 more)
Huntington disease-like 2
GUncertain significance
JPH3
(S209T)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 2
+1 more
GConflicting classifications of pathogenicity
JPH3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
JPH3
(R319W)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 2
+1 more
GUncertain significance
JPH3, LOC109029536
Microsatellite
Huntington disease-like 2
GPathogenic
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