C1836517[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93469	NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	IQCB1 (H373fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 30778	NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	IQCB1 (R489* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 1830	NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	IQCB1 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +4 more	GPathogenic
Select item 1834	NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter)	IQCB1 (Q357* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GPathogenic
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 1833	NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs)	IQCB1 (R275fs)	Deletion (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 1832	NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs)	IQCB1 (L149fs)	Microsatellite (frameshift variant +1 more)	Senior-Loken syndrome 5	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 30776	NM_001023570.4(IQCB1):c.333del (p.Ala112fs)	IQCB1 (A112fs)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GPathogenic

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