"Blueprint Genetics"[submitter] AND "BBS10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 406221	NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 417949	NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	BBS10 (Y559*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +5 more	GPathogenic
Select item 554591	NM_024685.4(BBS10):c.235dup (p.Thr79fs)	BBS10 (T79fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 866292	NM_024685.4(BBS10):c.206T>A (p.Val69Glu)	BBS10 (V69E)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +9 more	GPathogenic/Likely pathogenic

ClinVar