"Ambry Genetics"[submitter] AND "EVI2B"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2410276	NM_006495.4(EVI2B):c.1305T>A (p.Asp435Glu)	EVI2B, NF1 (D435E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223402	NM_006495.4(EVI2B):c.1223T>C (p.Val408Ala)	EVI2B, NF1 (V408A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219649	NM_006495.4(EVI2B):c.1214T>C (p.Leu405Pro)	EVI2B, NF1 (L405P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537991	NM_006495.4(EVI2B):c.1178A>G (p.Gln393Arg)	EVI2B, NF1 (Q393R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090830	NM_006495.4(EVI2B):c.1127C>A (p.Ser376Tyr)	EVI2B, NF1 (S376Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295111	NM_006495.4(EVI2B):c.1093C>G (p.Pro365Ala)	EVI2B, NF1 (P365A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519958	NM_006495.4(EVI2B):c.1078A>G (p.Met360Val)	EVI2B, NF1 (M360V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402167	NM_006495.4(EVI2B):c.1009G>C (p.Asp337His)	EVI2B, NF1 (D337H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227496	NM_006495.4(EVI2B):c.995C>A (p.Ser332Tyr)	EVI2B, NF1 (S332Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090840	NM_006495.4(EVI2B):c.956A>G (p.Asp319Gly)	EVI2B, NF1 (D319G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615302	NM_006495.4(EVI2B):c.938T>C (p.Val313Ala)	EVI2B, NF1 (V313A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295919	NM_006495.4(EVI2B):c.931G>C (p.Asp311His)	EVI2B, NF1 (D311H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276668	NM_006495.4(EVI2B):c.832A>G (p.Ser278Gly)	EVI2B, NF1 (S278G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090839	NM_006495.4(EVI2B):c.796C>T (p.Arg266Cys)	EVI2B, NF1 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510258	NM_006495.4(EVI2B):c.763G>A (p.Asp255Asn)	EVI2B, NF1 (D255N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362029	NM_006495.4(EVI2B):c.708A>T (p.Gln236His)	EVI2B, NF1 (Q236H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568166	NM_006495.4(EVI2B):c.658A>G (p.Ile220Val)	EVI2B, NF1 (I220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366525	NM_006495.4(EVI2B):c.643A>G (p.Met215Val)	EVI2B, NF1 (M215V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2411696	NM_006495.4(EVI2B):c.458T>C (p.Val153Ala)	EVI2B, NF1 (V153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090836	NM_006495.4(EVI2B):c.451T>A (p.Ser151Thr)	EVI2B, NF1 (S151T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378496	NM_006495.4(EVI2B):c.446A>C (p.Gln149Pro)	EVI2B, NF1 (Q149P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348553	NM_006495.4(EVI2B):c.440C>T (p.Thr147Ile)	EVI2B, NF1 (T147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258288	NM_006495.4(EVI2B):c.361G>A (p.Val121Met)	EVI2B, NF1 (V121M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276666	NM_006495.4(EVI2B):c.346T>G (p.Ser116Ala)	EVI2B, NF1 (S116A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602609	NM_006495.4(EVI2B):c.335T>C (p.Ile112Thr)	EVI2B, NF1 (I112T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090835	NM_006495.4(EVI2B):c.325C>T (p.Pro109Ser)	EVI2B, NF1 (P109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090834	NM_006495.4(EVI2B):c.319A>G (p.Lys107Glu)	EVI2B, NF1 (K107E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090833	NM_006495.4(EVI2B):c.245C>A (p.Thr82Lys)	EVI2B, NF1 (T82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090832	NM_006495.4(EVI2B):c.233C>A (p.Ala78Asp)	EVI2B, NF1 (A78D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480327	NM_006495.4(EVI2B):c.211A>G (p.Ile71Val)	EVI2B, NF1 (I71V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090831	NM_006495.4(EVI2B):c.208T>A (p.Ser70Thr)	EVI2B, NF1 (S70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478531	NM_006495.4(EVI2B):c.197T>C (p.Phe66Ser)	EVI2B, NF1 (F66S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2362267	NM_006495.4(EVI2B):c.161A>T (p.Asn54Ile)	EVI2B, NF1 (N54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276667	NM_006495.4(EVI2B):c.123G>A (p.Met41Ile)	EVI2B, NF1 (M41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608407	NM_006495.4(EVI2B):c.118T>C (p.Ser40Pro)	EVI2B, NF1 (S40P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090837	NM_006495.4(EVI2B):c.48C>A (p.Asn16Lys)	EVI2B, NF1 (N16K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362028	NM_006495.4(EVI2B):c.13T>C (p.Tyr5His)	EVI2B, NF1 (Y5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 37