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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB5
Single nucleotide variant
(splice acceptor variant)
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
+1 more
GPathogenic
GNB5
(D116fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GNB5
(S81L +2 more)
Single nucleotide variant
(missense variant)
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
+2 more
GPathogenic
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