"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235610	NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)	BBS9 (L246F +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 194138	NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)	BBS9 (A427V +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 194684	NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)	BBS9 (T549I +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +3 more	GBenign/Likely benign
Select item 194685	NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)	BBS9 (I550V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 263122	NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)	BBS9 (I617L +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 2662	NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	BBS9 (K504fs +8 more)	Deletion (frameshift variant +1 more)	BBS9-related disorder +4 more	GPathogenic
Select item 242248	NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)	BBS9 (L779Q +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity

ClinVar