"Ambry Genetics"[submitter] AND "EDEM3"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2621567	NM_025191.4(EDEM3):c.2576C>A (p.Ser859Tyr)	EDEM3 (S875Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599482	NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr)	EDEM3 (D811Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274502	NM_025191.4(EDEM3):c.2339G>A (p.Arg780Gln)	EDEM3 (R780Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087181	NM_025191.4(EDEM3):c.2338C>T (p.Arg780Trp)	EDEM3 (R780W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087180	NM_025191.4(EDEM3):c.2258A>G (p.Asp753Gly)	EDEM3 (D753G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274503	NM_025191.4(EDEM3):c.2219G>A (p.Ser740Asn)	EDEM3 (S740N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087179	NM_025191.4(EDEM3):c.2119G>A (p.Ala707Thr)	EDEM3 (A707T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319026	NM_025191.4(EDEM3):c.2072A>G (p.Asn691Ser)	EDEM3 (N691S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2217297	NM_025191.4(EDEM3):c.2053G>A (p.Ala685Thr)	EDEM3 (A685T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274505	NM_025191.4(EDEM3):c.1981G>A (p.Val661Ile)	EDEM3 (V661I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274504	NM_025191.4(EDEM3):c.1898T>C (p.Ile633Thr)	EDEM3 (I633T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365226	NM_025191.4(EDEM3):c.1858A>G (p.Ile620Val)	EDEM3 (I620V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087178	NM_025191.4(EDEM3):c.1853G>T (p.Ser618Ile)	EDEM3 (S618I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300752	NM_025191.4(EDEM3):c.1719A>C (p.Lys573Asn)	EDEM3 (K573N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545884	NM_025191.4(EDEM3):c.1679G>A (p.Gly560Asp)	EDEM3 (G560D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545209	NM_025191.4(EDEM3):c.1607C>G (p.Pro536Arg)	EDEM3 (P536R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282074	NM_025191.4(EDEM3):c.1541C>T (p.Ser514Leu)	EDEM3 (S514L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377512	NM_025191.4(EDEM3):c.1532A>G (p.Asn511Ser)	EDEM3 (N511S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546066	NM_025191.4(EDEM3):c.1517G>T (p.Ser506Ile)	EDEM3 (S506I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398273	NM_025191.4(EDEM3):c.1435G>T (p.Asp479Tyr)	EDEM3 (D479Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087176	NM_025191.4(EDEM3):c.1362T>A (p.His454Gln)	EDEM3 (H454Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595707	NM_025191.4(EDEM3):c.1352C>G (p.Thr451Ser)	EDEM3 (T451S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087175	NM_025191.4(EDEM3):c.1309G>T (p.Ala437Ser)	EDEM3 (A437S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203998	NM_025191.4(EDEM3):c.1105A>G (p.Ile369Val)	EDEM3 (I369V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322415	NM_025191.4(EDEM3):c.1097G>T (p.Arg366Ile)	EDEM3 (R366I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310839	NM_025191.4(EDEM3):c.948C>G (p.Asn316Lys)	EDEM3 (N316K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087186	NM_025191.4(EDEM3):c.938A>G (p.Glu313Gly)	EDEM3 (E313G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214612	NM_025191.4(EDEM3):c.866G>A (p.Gly289Glu)	EDEM3 (G289E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087185	NM_025191.4(EDEM3):c.814G>C (p.Val272Leu)	EDEM3 (V272L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495763	NM_025191.4(EDEM3):c.739A>G (p.Ile247Val)	EDEM3 (I247V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384093	NM_025191.4(EDEM3):c.655G>A (p.Gly219Arg)	EDEM3 (G219R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551328	NM_025191.4(EDEM3):c.631A>T (p.Ile211Phe)	EDEM3 (I211F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240754	NM_025191.4(EDEM3):c.568C>G (p.Leu190Val)	EDEM3 (L190V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514625	NM_025191.4(EDEM3):c.531T>A (p.Asp177Glu)	EDEM3 (D177E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330427	NM_025191.4(EDEM3):c.395G>C (p.Arg132Thr)	EDEM3 (R132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087183	NM_025191.4(EDEM3):c.352A>G (p.Asn118Asp)	EDEM3 (N118D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610641	NM_025191.4(EDEM3):c.280G>A (p.Gly94Ser)	EDEM3 (G94S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087182	NM_025191.4(EDEM3):c.268G>C (p.Glu90Gln)	EDEM3 (E90Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087177	NM_025191.4(EDEM3):c.181G>A (p.Asp61Asn)	EDEM3 (D61N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406950	NM_025191.4(EDEM3):c.139G>A (p.Glu47Lys)	EDEM3, LOC129932108 (E47K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242328	NM_025191.4(EDEM3):c.122C>T (p.Ala41Val)	EDEM3, LOC129932108 (A41V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226752	NM_025191.4(EDEM3):c.50C>G (p.Ala17Gly)	EDEM3 (A17G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235304	NM_025191.4(EDEM3):c.35C>T (p.Pro12Leu)	EDEM3 (P12L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 43