C1847725[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418724	NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	SUMF1 (Q262R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 633506	NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)	ITPR1 (E248del)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 208786	NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	ITPR1 (T267M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +3 more	GPathogenic
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 1028567	NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)	ITPR1 (R1000Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028568	NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)	ITPR1 (T1054I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028571	NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)	ITPR1 (R1499H +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 15/16	GUncertain significance

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