"OMIM"[submitter] AND "BBS10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30817	NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)	BBS10 (P350fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1331	NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)	BBS10 (S311A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 432013	NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	BBS10 (S303fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +3 more	GPathogenic
Select item 30818	NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	BBS10 (C91W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +6 more	GPathogenic
Select item 1329	NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)	BBS10 (R34P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 1332	NM_024685.4(BBS10):c.32T>G (p.Val11Gly)	BBS10 (V11G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance

ClinVar