"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1830	NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	IQCB1 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	IQCB1-related disorder +4 more	GPathogenic
Select item 438039	NM_001023570.4(IQCB1):c.1278+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 30779	NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	IQCB1 (E346* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 1831	NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	IQCB1 (F142fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 438040	NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)	IQCB1 (L87*)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 285623	NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	IQCB1 (R72*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +3 more	GPathogenic

ClinVar