C1836517[trait identifier] AND "3billion"[submitter] - ClinVar

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	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 167197	NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)	IQCB1 (R364* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +2 more	GPathogenic
Select item 1333366	NM_001023570.4(IQCB1):c.767-2A>G	IQCB1	Single nucleotide variant (splice acceptor variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic

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