"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 412264	NM_198428.3(BBS9):c.263+1G>A	BBS9	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 9 +2 more	GPathogenic
Select item 2662	NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	BBS9 (K504fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9 +4 more	GPathogenic