"PreventionGenetics, part of Exact Sciences"[submitter] AND "ITPR2"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057471	NM_002223.4(ITPR2):c.6336C>G (p.Ala2112=)	ITPR2	Single nucleotide variant (synonymous variant +1 more)	ITPR2-related disorder	GLikely benign
Select item 3038559	NM_002223.4(ITPR2):c.6309T>C (p.Asp2103=)	ITPR2	Single nucleotide variant (synonymous variant +1 more)	ITPR2-related disorder	GLikely benign
Select item 3040542	NM_002223.4(ITPR2):c.6096C>T (p.Tyr2032=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3033955	NM_002223.4(ITPR2):c.5874T>C (p.Phe1958=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3051841	NM_002223.4(ITPR2):c.5583G>C (p.Glu1861Asp)	ITPR2 (E1860D +1 more)	Single nucleotide variant (missense variant)	ITPR2-related disorder	GLikely benign
Select item 727162	NM_002223.4(ITPR2):c.4453A>T (p.Asn1485Tyr)	ITPR2 (N1485Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 727163	NM_002223.4(ITPR2):c.4452G>T (p.Met1484Ile)	ITPR2 (M1484I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3039900	NM_002223.4(ITPR2):c.4381-8C>T	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 3053351	NM_002223.4(ITPR2):c.3552+3C>T	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 444286	NM_002223.4(ITPR2):c.3485T>G (p.Val1162Gly)	ITPR2 (V1162G)	Single nucleotide variant (missense variant)	ITPR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3033587	NM_002223.4(ITPR2):c.3122+4T>C	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 3038755	NM_002223.4(ITPR2):c.2826C>T (p.Ser942=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3060706	NM_002223.4(ITPR2):c.2694C>T (p.Ala898=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GBenign
Select item 3055465	NM_002223.4(ITPR2):c.2590-8_2590-7dup	ITPR2	Duplication (intron variant)	ITPR2-related disorder	GBenign
Select item 3050840	NM_002223.4(ITPR2):c.2445A>G (p.Glu815=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3046509	NM_002223.4(ITPR2):c.2316C>T (p.Phe772=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 736883	NM_002223.4(ITPR2):c.2268G>C (p.Leu756=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3059940	NM_002223.4(ITPR2):c.2262A>C (p.Thr754=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GBenign
Select item 3055783	NM_002223.4(ITPR2):c.1905A>G (p.Ser635=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GBenign
Select item 3037589	NM_002223.4(ITPR2):c.495G>A (p.Pro165=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 3059684	NM_002223.4(ITPR2):c.279+6G>C	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GBenign

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Items: 21