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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2204537	NM_016337.3(EVL):c.88C>T (p.Pro30Ser)	EVL (P28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090860	NM_016337.3(EVL):c.116A>G (p.Asn39Ser)	EVL (N37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352963	NM_016337.3(EVL):c.118A>G (p.Ile40Val)	EVL (I40V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606702	NM_016337.3(EVL):c.185T>C (p.Val62Ala)	EVL (V60A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090862	NM_016337.3(EVL):c.197C>T (p.Ser66Leu)	EVL (S66L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090863	NM_016337.3(EVL):c.230C>T (p.Thr77Met)	EVL (T75M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310343	NM_016337.3(EVL):c.319A>G (p.Met107Val)	EVL (M105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510350	NM_016337.3(EVL):c.351A>C (p.Gln117His)	EVL (Q115H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397556	NM_016337.3(EVL):c.361C>A (p.Pro121Thr)	EVL (P119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340218	NM_016337.3(EVL):c.367A>G (p.Ser123Gly)	EVL (S123G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232975	NM_016337.3(EVL):c.413T>A (p.Ile138Asn)	EVL (I136N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481117	NM_016337.3(EVL):c.508C>T (p.His170Tyr)	EVL (H168Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331173	NM_016337.3(EVL):c.572C>T (p.Pro191Leu)	EVL (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608917	NM_016337.3(EVL):c.628G>A (p.Gly210Arg)	EVL (G208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468977	NM_016337.3(EVL):c.679G>A (p.Ala227Thr)	EVL (A225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511794	NM_016337.3(EVL):c.727G>A (p.Ala243Thr)	EVL (A241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460053	NM_016337.3(EVL):c.742A>G (p.Ser248Gly)	EVL (S248G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090864	NM_016337.3(EVL):c.824A>G (p.Lys275Arg)	EVL (K273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511969	NM_016337.3(EVL):c.1009C>T (p.Pro337Ser)	EVL (P335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477051	NM_016337.3(EVL):c.1103C>T (p.Pro368Leu)	EVL (P368L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602798	NM_016337.3(EVL):c.1105G>A (p.Ala369Thr)	EVL (A369T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090861	NM_016337.3(EVL):c.1204G>A (p.Glu402Lys)	EVL (E402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268070	NM_016337.3(EVL):c.1231G>A (p.Glu411Lys)	EVL (E411K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23