"Ambry Genetics"[submitter] AND "EVI2A"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2605834	NM_014210.4(EVI2A):c.689T>C (p.Leu230Pro)	EVI2A, NF1 (L230P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090829	NM_014210.4(EVI2A):c.676G>A (p.Gly226Arg)	EVI2A, NF1 (G249R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207682	NM_014210.4(EVI2A):c.634A>G (p.Thr212Ala)	EVI2A, NF1 (T212A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268006	NM_014210.4(EVI2A):c.626T>G (p.Met209Arg)	EVI2A, NF1 (M232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311228	NM_014210.4(EVI2A):c.596C>T (p.Thr199Ile)	EVI2A, NF1 (T222I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348552	NM_014210.4(EVI2A):c.571G>A (p.Ala191Thr)	EVI2A, NF1 (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374527	NM_014210.4(EVI2A):c.541G>A (p.Gly181Ser)	EVI2A, LOC130060655 +1 more (G181S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255377	NM_014210.4(EVI2A):c.523C>T (p.Arg175Cys)	EVI2A, LOC130060655 +1 more (R175C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237499	NM_014210.4(EVI2A):c.503G>A (p.Arg168Gln)	EVI2A, NF1 (R191Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542006	NM_014210.4(EVI2A):c.461T>C (p.Leu154Pro)	EVI2A, NF1 (L177P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407166	NM_014210.4(EVI2A):c.449C>A (p.Thr150Asn)	EVI2A, NF1 (T173N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374765	NM_014210.4(EVI2A):c.398T>C (p.Met133Thr)	EVI2A, NF1 (M133T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276664	NM_014210.4(EVI2A):c.382G>A (p.Glu128Lys)	EVI2A, NF1 (E128K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276663	NM_014210.4(EVI2A):c.361T>G (p.Phe121Val)	EVI2A, NF1 (F121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1742983	NM_001042492.3(NF1):c.4836-7135A>G	EVI2A, NF1 (I133T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GBenign
Select item 3090828	NM_014210.4(EVI2A):c.239C>G (p.Thr80Arg)	EVI2A, NF1 (T103R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296848	NM_014210.4(EVI2A):c.101G>A (p.Arg34His)	EVI2A, NF1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 431651	NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)	EVI2A, NF1	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic