"Ambry Genetics"[submitter] AND "EDEM2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274500	NM_018217.3(EDEM2):c.1637G>A (p.Arg546Lys)	EDEM2, MMP24-AS1-EDEM2 (R509K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2338977	NM_018217.3(EDEM2):c.1592C>T (p.Pro531Leu)	EDEM2, MMP24-AS1-EDEM2 (P490L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362849	NM_018217.3(EDEM2):c.1586C>A (p.Ala529Glu)	EDEM2, MMP24-AS1-EDEM2 (A492E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362848	NM_018217.3(EDEM2):c.1585G>A (p.Ala529Thr)	EDEM2, MMP24-AS1-EDEM2 (A488T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3274501	NM_018217.3(EDEM2):c.1536G>T (p.Arg512Ser)	EDEM2, MMP24-AS1-EDEM2 (R471S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613071	NM_018217.3(EDEM2):c.1519T>G (p.Ser507Ala)	EDEM2, MMP24-AS1-EDEM2 (S507A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595772	NM_018217.3(EDEM2):c.1519T>A (p.Ser507Thr)	EDEM2, MMP24-AS1-EDEM2 (S470T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312842	NM_018217.3(EDEM2):c.1450G>A (p.Ala484Thr)	EDEM2, MMP24-AS1-EDEM2 (A443T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087170	NM_018217.3(EDEM2):c.1421A>G (p.Asn474Ser)	EDEM2, MMP24-AS1-EDEM2 (N474S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274498	NM_018217.3(EDEM2):c.1415T>C (p.Ile472Thr)	EDEM2, MMP24-AS1-EDEM2 (I435T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213247	NM_018217.3(EDEM2):c.1382A>G (p.Tyr461Cys)	EDEM2, MMP24-AS1-EDEM2 (Y420C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539777	NM_018217.3(EDEM2):c.1326C>G (p.Asp442Glu)	EDEM2, MMP24-AS1-EDEM2 (D401E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589658	NM_018217.3(EDEM2):c.1270C>T (p.Arg424Cys)	EDEM2, MMP24-AS1-EDEM2 (R383C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528593	NM_018217.3(EDEM2):c.1163C>T (p.Thr388Ile)	EDEM2, MMP24-AS1-EDEM2 (T347I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087169	NM_018217.3(EDEM2):c.1145G>A (p.Arg382His)	EDEM2, MMP24-AS1-EDEM2 (R345H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509694	NM_018217.3(EDEM2):c.1121T>C (p.Ile374Thr)	EDEM2, MMP24-AS1-EDEM2 (I337T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262277	NM_018217.3(EDEM2):c.1091G>A (p.Arg364Gln)	EDEM2, MMP24-AS1-EDEM2 (R323Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087168	NM_018217.3(EDEM2):c.1084G>C (p.Glu362Gln)	EDEM2, MMP24-AS1-EDEM2 (E362Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620772	NM_018217.3(EDEM2):c.1027T>C (p.Trp343Arg)	EDEM2, MMP24-AS1-EDEM2 (W306R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387400	NM_018217.3(EDEM2):c.978T>G (p.Ile326Met)	EDEM2, MMP24-AS1-EDEM2 (I285M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087174	NM_018217.3(EDEM2):c.977T>C (p.Ile326Thr)	EDEM2, MMP24-AS1-EDEM2 (I289T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087172	NM_018217.3(EDEM2):c.917C>T (p.Thr306Ile)	EDEM2, MMP24-AS1-EDEM2 (T265I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588916	NM_018217.3(EDEM2):c.829A>T (p.Met277Leu)	EDEM2, MMP24-AS1-EDEM2 (M236L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274495	NM_018217.3(EDEM2):c.696C>G (p.Ile232Met)	EDEM2, MMP24-AS1-EDEM2 (I232M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274497	NM_018217.3(EDEM2):c.686G>A (p.Arg229Gln)	EDEM2, MMP24-AS1-EDEM2 (R188Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274496	NM_018217.3(EDEM2):c.671G>A (p.Arg224His)	EDEM2, MMP24-AS1-EDEM2 (R183H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457254	NM_018217.3(EDEM2):c.670C>T (p.Arg224Cys)	EDEM2, MMP24-AS1-EDEM2 (R187C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348748	NM_018217.3(EDEM2):c.656G>C (p.Arg219Thr)	EDEM2, MMP24-AS1-EDEM2 (R219T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271664	NM_018217.3(EDEM2):c.635C>T (p.Pro212Leu)	EDEM2, MMP24-AS1-EDEM2 (P175L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523833	NM_018217.3(EDEM2):c.550C>A (p.Pro184Thr)	EDEM2, MMP24-AS1-EDEM2 (P143T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535781	NM_018217.3(EDEM2):c.511A>G (p.Met171Val)	EDEM2, MMP24-AS1-EDEM2 (M130V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265855	NM_018217.3(EDEM2):c.341C>G (p.Ser114Cys)	EDEM2, MMP24-AS1-EDEM2 (S114C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457391	NM_018217.3(EDEM2):c.316G>A (p.Asp106Asn)	EDEM2, MMP24-AS1-EDEM2 (D106N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302986	NM_018217.3(EDEM2):c.260T>C (p.Ile87Thr)	EDEM2, MMP24-AS1-EDEM2 (I46T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610343	NM_018217.3(EDEM2):c.241G>A (p.Ala81Thr)	EDEM2, MMP24-AS1-EDEM2 (A40T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087173	NM_018217.3(EDEM2):c.92A>T (p.Asp31Val)	EDEM2, MMP24-AS1-EDEM2 (D31V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507648	NM_018217.3(EDEM2):c.73C>G (p.Pro25Ala)	EDEM2, MMP24-AS1-EDEM2 (P25A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556935	NM_018217.3(EDEM2):c.38G>T (p.Cys13Phe)	EDEM2, MMP24-AS1-EDEM2 (C13F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550058	NM_018217.3(EDEM2):c.11G>T (p.Arg4Leu)	EDEM2, MMP24-AS1-EDEM2 (R4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 39