"Ambry Genetics"[submitter] AND "NOVA1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2475014	NM_002515.3(NOVA1):c.1514A>T (p.Lys505Ile)	NOVA1 (K444I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490488	NM_002515.3(NOVA1):c.1213C>G (p.Leu405Val)	NOVA1 (L283V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201422	NM_002515.3(NOVA1):c.1136C>T (p.Thr379Met)	NOVA1 (T257M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328161	NM_002515.3(NOVA1):c.1025C>A (p.Thr342Lys)	NOVA1 (T318K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556319	NM_002515.3(NOVA1):c.706C>G (p.Leu236Val)	NOVA1 (L212V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229049	NM_002515.3(NOVA1):c.607G>T (p.Ala203Ser)	NOVA1 (A202S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300522	NM_002515.3(NOVA1):c.589G>A (p.Val197Ile)	NOVA1 (V160I +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228462	NM_002515.3(NOVA1):c.494C>T (p.Pro165Leu)	NOVA1 (P128L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460450	NM_002515.3(NOVA1):c.479C>T (p.Ser160Phe)	NOVA1 (S38F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201423	NM_002515.3(NOVA1):c.382G>T (p.Ala128Ser)	NOVA1 (A128S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244295	NM_002515.3(NOVA1):c.116C>A (p.Thr39Asn)	NOVA1 (T39N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance