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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKG2
Single nucleotide variant
(splice donor variant)
Acromesomelic dysplasia 4
GPathogenic
PRKG2
(V21G +3 more)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 4
GLikely pathogenic
PRKG2, PRKG2-AS1
(N164fs)
Duplication
(frameshift variant)
Acromesomelic dysplasia 4
GPathogenic
PRKG2
(R569* +4 more)
Single nucleotide variant
(nonsense)
Acromesomelic dysplasia 4
GPathogenic
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