"PreventionGenetics, part of Exact Sciences"[submitter] AND "NOVA2"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037475	NM_002516.4(NOVA2):c.1158C>A (p.Ala386=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 3037861	NM_002516.4(NOVA2):c.1155A>T (p.Ala385=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 3038009	NM_002516.4(NOVA2):c.1152T>G (p.Ala384=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 2630361	NM_002516.4(NOVA2):c.1104_1134del (p.Gly369fs)	NOVA2 (G369fs)	Deletion (frameshift variant)	NOVA2-related disorder	GLikely pathogenic
Select item 3037121	NM_002516.4(NOVA2):c.1131G>C (p.Gly377=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 2352957	NM_002516.4(NOVA2):c.1000G>A (p.Ala334Thr)	NOVA2 (A334T)	Single nucleotide variant (missense variant)	NOVA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3060845	NM_002516.4(NOVA2):c.958GCC[4] (p.Ala324del)	NOVA2 (A324del)	Microsatellite (inframe deletion)	NOVA2-related disorder	GLikely benign
Select item 3030945	NM_002516.4(NOVA2):c.738C>A (p.Ala246=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 1326995	NM_002516.4(NOVA2):c.714G>T (p.Leu238=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder +1 more	GBenign
Select item 2630704	NM_002516.4(NOVA2):c.710T>C (p.Val237Ala)	NOVA2 (V237A)	Single nucleotide variant (missense variant)	NOVA2-related disorder	GUncertain significance