"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ITPR1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345338	NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)	ITPR1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 345641	NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1202127	NM_001378452.1(ITPR1):c.1554+17G>A	ITPR1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 29 +3 more	GBenign/Likely benign
Select item 345714	NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)	ITPR1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 29 +5 more	GBenign/Likely benign
Select item 345727	NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)	ITPR1 (D1139G +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +4 more	GBenign/Likely benign
Select item 447584	NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)	ITPR1 (A1207T +3 more)	Single nucleotide variant (missense variant)	Gillespie syndrome +5 more	GUncertain significance
Select item 741041	NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 345732	NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)	ITPR1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 29 +5 more	GBenign/Likely benign
Select item 345733	NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)	ITPR1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 29 +5 more	GBenign/Likely benign
Select item 345735	NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)	ITPR1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 345737	NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)	ITPR1 (I1406V +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29 +5 more	GBenign/Likely benign
Select item 345782	NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)	ITPR1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 29 +5 more	GBenign/Likely benign
Select item 520945	NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	ITPR1, LOC126806590 (G2487R +3 more)	Single nucleotide variant (missense variant)	Gillespie syndrome +4 more	GConflicting classifications of pathogenicity