"Ambry Genetics"[submitter] AND "EPS8L3"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2252568	NM_133181.4(EPS8L3):c.1682G>A (p.Arg561His)	EPS8L3, LOC126805823 (R561H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607828	NM_133181.4(EPS8L3):c.1649C>T (p.Thr550Ile)	EPS8L3, LOC126805823 (T487I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538970	NM_133181.4(EPS8L3):c.1590G>T (p.Arg530Ser)	EPS8L3, LOC126805823 (R500S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547842	NM_133181.4(EPS8L3):c.1572G>A (p.Met524Ile)	EPS8L3, LOC126805823 (M494I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224178	NM_133181.4(EPS8L3):c.1562G>A (p.Arg521Gln)	EPS8L3 (R491Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455036	NM_133181.4(EPS8L3):c.1409C>A (p.Thr470Asn)	EPS8L3 (T471N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089972	NM_133181.4(EPS8L3):c.1400G>A (p.Arg467Gln)	EPS8L3 (R468Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089971	NM_133181.4(EPS8L3):c.1378G>A (p.Glu460Lys)	EPS8L3 (E397K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597982	NM_133181.4(EPS8L3):c.1358T>C (p.Leu453Pro)	EPS8L3 (L423P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490940	NM_133181.4(EPS8L3):c.1334G>T (p.Ser445Ile)	EPS8L3 (S415I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601065	NM_133181.4(EPS8L3):c.1081C>A (p.Leu361Ile)	EPS8L3 (L328I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253589	NM_133181.4(EPS8L3):c.1080C>A (p.Asn360Lys)	EPS8L3 (N327K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464040	NM_133181.4(EPS8L3):c.1075A>G (p.Ser359Gly)	EPS8L3 (S360G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089980	NM_133181.4(EPS8L3):c.980G>C (p.Arg327Thr)	EPS8L3 (R328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517788	NM_133181.4(EPS8L3):c.954C>A (p.Phe318Leu)	EPS8L3 (F285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306001	NM_133181.4(EPS8L3):c.845C>T (p.Ala282Val)	EPS8L3 (A249V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515411	NM_133181.4(EPS8L3):c.836T>C (p.Leu279Pro)	EPS8L3 (L246P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490378	NM_133181.4(EPS8L3):c.829G>A (p.Gly277Arg)	EPS8L3 (G277R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606415	NM_133181.4(EPS8L3):c.730C>T (p.His244Tyr)	EPS8L3 (H211Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089979	NM_133181.4(EPS8L3):c.697G>C (p.Glu233Gln)	EPS8L3 (E233Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215797	NM_133181.4(EPS8L3):c.661T>C (p.Phe221Leu)	EPS8L3 (F222L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401181	NM_133181.4(EPS8L3):c.643G>A (p.Ala215Thr)	EPS8L3 (A216T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470715	NM_133181.4(EPS8L3):c.631C>T (p.Arg211Cys)	EPS8L3 (R211C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527397	NM_133181.4(EPS8L3):c.626T>C (p.Leu209Pro)	EPS8L3 (L176P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493811	NM_133181.4(EPS8L3):c.569C>T (p.Pro190Leu)	EPS8L3 (P190L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373778	NM_133181.4(EPS8L3):c.557C>T (p.Pro186Leu)	EPS8L3 (P186L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315015	NM_133181.4(EPS8L3):c.526C>T (p.Leu176Phe)	EPS8L3 (L176F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469501	NM_133181.4(EPS8L3):c.506G>A (p.Gly169Glu)	EPS8L3 (G136E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289178	NM_133181.4(EPS8L3):c.503G>T (p.Arg168Met)	EPS8L3 (R135M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089977	NM_133181.4(EPS8L3):c.482A>T (p.Gln161Leu)	EPS8L3 (Q161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547015	NM_133181.4(EPS8L3):c.450G>C (p.Glu150Asp)	EPS8L3 (E116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366299	NM_133181.4(EPS8L3):c.444G>T (p.Glu148Asp)	EPS8L3 (E114D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379924	NM_133181.4(EPS8L3):c.356C>T (p.Pro119Leu)	EPS8L3 (P85L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089975	NM_133181.4(EPS8L3):c.211C>A (p.Gln71Lys)	EPS8L3 (Q37K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089974	NM_133181.4(EPS8L3):c.185G>A (p.Arg62Gln)	EPS8L3 (R28Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089973	NM_133181.4(EPS8L3):c.184C>T (p.Arg62Trp)	EPS8L3 (R62W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552800	NM_133181.4(EPS8L3):c.142G>A (p.Glu48Lys)	EPS8L3 (E48K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470551	NM_133181.4(EPS8L3):c.107C>T (p.Thr36Ile)	EPS8L3 (T2I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246041	NM_133181.4(EPS8L3):c.59T>C (p.Leu20Pro)	EPS8L3 (L20P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3089976	NM_133181.4(EPS8L3):c.46T>C (p.Tyr16His)	EPS8L3 (Y16H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 40