C0431401[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572528	NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)	ITPR1 (A76T)	Single nucleotide variant (missense variant)	Gillespie syndrome	GUncertain significance
Select item 265201	NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	ITPR1 (R269W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +5 more	GPathogenic/Likely pathogenic
Select item 2444432	NM_001378452.1(ITPR1):c.4885C>T (p.Gln1629Ter)	ITPR1 (Q1605* +3 more)	Single nucleotide variant (nonsense)	Gillespie syndrome	GLikely pathogenic

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