"Clinical Genetics, Academic Medical Center"[submitter] AND "BBS9"[gen - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242249	NM_198428.3(BBS9):c.555C>T (p.Ala185=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 638414	NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu)	BBS9 (P520L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 360068	NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)	BBS9 (D696N +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 210514	NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)	BBS9 (A739V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign

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