Related gene-specific medical variations for Gene (Select 2622) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243534	NC_000016.9:g.(?_90089130)_(90089152_?)dup	GAS8	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 3024804	NM_001481.3(GAS8):c.90+1543C>T	GAS8, GAS8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2432042	NM_001481.3(GAS8):c.925-2A>C	GAS8	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2428604	NM_001481.3(GAS8):c.1146G>C (p.Glu382Asp)	GAS8 (E190D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 804479	NM_001481.3(GAS8):c.865del (p.Glu289fs)	GAS8 (E97fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 33	GLikely pathogenic
Select item 212708	NC_000016.10:g.90029209_90029210insGCTGCCCCGCAG	GAS8, GAS8-AS1	Insertion (intron variant)	Autism	GLikely benign

ClinVar