C5568877[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 450608	NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)	GNB5 (Y344* +2 more)	Single nucleotide variant (nonsense)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 268102	NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)	GNB5 (Y302* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 977622	NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)	GNB5 (S123W +2 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 254029	NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)	GNB5 (S81L +2 more)	Single nucleotide variant (missense variant)	Gnb5-related intellectual disability-cardiac arrhythmia syndrome +2 more	GPathogenic
Select item 426541	NM_016194.4(GNB5):c.348_352del (p.Asp116fs)	GNB5 (D116fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1210290	NM_016194.4(GNB5):c.262del (p.Glu88fs)	GNB5 (E46fs +1 more)	Deletion (5 prime UTR variant +1 more)	GNB5-related disorder	GPathogenic

ClinVar