"Blueprint Genetics"[submitter] AND "ZDHHC24"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865945	NM_024649.5(BBS1):c.724-8_726del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 193740	NM_024649.5(BBS1):c.887del (p.Ile296fs)	BBS1, ZDHHC24 (I296fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic
Select item 867194	NM_024649.5(BBS1):c.1114_1115insTGTG (p.Ala372fs)	BBS1, ZDHHC24 (A372fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 866282	NM_024649.5(BBS1):c.1473+2T>C	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12147	NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	BBS1, ZDHHC24 (L518P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 866037	NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter)	BBS1, ZDHHC24 (Y546*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866100	NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)	BBS1, ZDHHC24 (S561*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic

ClinVar