"Clinical Genetics, Academic Medical Center"[submitter] AND "BBS1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193457	NM_024649.5(BBS1):c.24T>C (p.Asp8=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1284769	NM_024649.5(BBS1):c.589C>T (p.Gln197Ter)	BBS1 (Q197*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 990065	NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)	ZDHHC24, BBS1 (P248T)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 695359	NM_024649.5(BBS1):c.1020C>G (p.Ser340=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GPathogenic/Likely pathogenic
Select item 188983	NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	BBS1, ZDHHC24 (R429*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 305472	NM_024649.5(BBS1):c.1719A>G (p.Gln573=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GBenign/Likely benign

ClinVar