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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AOPEP
Single nucleotide variant
(splice donor variant +1 more)
Dystonia 31
GPathogenic
AOPEP
(Q235*)
Single nucleotide variant
(nonsense +2 more)
Dystonia 31
GLikely pathogenic
AOPEP
(M152fs +3 more)
Deletion
(frameshift variant +2 more)
Dystonia 31
GPathogenic
AOPEP
(V116fs +3 more)
Deletion
(frameshift variant +1 more)
AOPEP-related disorder
GLikely pathogenic
AOPEP
(R255*)
Single nucleotide variant
(nonsense +2 more)
Dystonia 31
GPathogenic
AOPEP
(W259*)
Single nucleotide variant
(nonsense +2 more)
Dystonia 31
GPathogenic
AOPEP
(R493* +2 more)
Single nucleotide variant
(nonsense +2 more)
Dystonia 31
GPathogenic
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