C2936862[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305458	NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)	BBS1 (E79K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 261750	NM_024649.5(BBS1):c.378G>A (p.Leu126=)	BBS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 96131	NM_024649.5(BBS1):c.724-8G>C	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 194431	NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)	ZDHHC24, BBS1 (R450Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 261747	NM_024649.5(BBS1):c.1413C>T (p.Leu471=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 261745	NM_024649.5(BBS1):c.*7A>G	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +5 more	GPathogenic
Select item 261981	NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	BBS2 (I123V)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity

ClinVar