"OMIM"[submitter] AND "IFT74"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300252	NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)	IFT74	Single nucleotide variant (nonsense)	Joubert syndrome 40	GLikely pathogenic
Select item 1300250	NM_025103.4(IFT74):c.92del (p.Leu31fs)	IFT74 (L31fs)	Deletion (frameshift variant)	Joubert syndrome 40	GPathogenic
Select item 997008	NM_025103.4(IFT74):c.256G>A (p.Gly86Ser)	IFT74 (G86S)	Single nucleotide variant (missense variant)	Spermatogenic failure 58	GPathogenic
Select item 1300251	NM_025103.4(IFT74):c.306-24A>G	IFT74	Single nucleotide variant (intron variant)	Joubert syndrome 40	GPathogenic
Select item 1192529	NM_025103.4(IFT74):c.371_372del (p.Gln124fs)	IFT74 (Q124fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 22	GPathogenic
Select item 1300249	NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)	IFT74	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1300253	NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)	IFT74	Single nucleotide variant (nonsense)	Joubert syndrome 40 +1 more	GPathogenic/Likely pathogenic
Select item 431748	GRCh38/hg38 9p21.2(chr9:27040565-27060992)	IFT74	Copy number loss	Bardet-Biedl syndrome 22 +1 more	GPathogenic/Likely pathogenic
Select item 254276	NM_025103.4(IFT74):c.1685-1G>T	IFT74	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar