"Baylor Genetics"[submitter] AND "BBS5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 956784	NM_152384.3(BBS5):c.303dup (p.Asn102Ter)	BBS5 (N102*)	Duplication (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1033146	NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)	BBS5 (E158K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +1 more	GUncertain significance
Select item 1033147	NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)	BBS5	Deletion (nonsense)	Bardet-Biedl syndrome 5 +1 more	GPathogenic

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