C1847725[trait identifier] AND "Genome-Nilou Lab"[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 1258981	NM_001378452.1(ITPR1):c.951+35G>C	ITPR1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 129298	NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 129299	NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)	ITPR1	Single nucleotide variant (synonymous variant)	Gillespie syndrome +4 more	GBenign
Select item 804939	NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)	ITPR1	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 29 +3 more	GBenign
Select item 1170008	NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)	ITPR1	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 15/16 +3 more	GBenign
Select item 129302	NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)	ITPR1	Single nucleotide variant (synonymous variant)	Gillespie syndrome +5 more	GBenign
Select item 129303	NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	Gillespie syndrome +4 more	GBenign
Select item 129304	NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)	ITPR1, LOC126806590	Single nucleotide variant (synonymous variant)	Gillespie syndrome +4 more	GBenign

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