"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 969600	NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)	BBS2 (Y644*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 194124	NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 96206	NM_031885.5(BBS2):c.1413A>C (p.Val471=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 74 +5 more	GBenign/Likely benign
Select item 319861	NM_031885.5(BBS2):c.865A>G (p.Ile289Val)	BBS2 (I289V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GBenign
Select item 235766	NM_031885.5(BBS2):c.805-20A>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 696093	NM_031885.5(BBS2):c.472-10T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign

ClinVar