EDEM2[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2362848	NM_018217.3(EDEM2):c.1585G>A (p.Ala529Thr)	MMP24-AS1-EDEM2, EDEM2 (A488T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 737798	NM_018217.3(EDEM2):c.1272C>T (p.Arg424=)	EDEM2, MMP24-AS1-EDEM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 812723	NM_018217.3(EDEM2):c.1271G>A (p.Arg424His)	EDEM2, MMP24-AS1-EDEM2 (R424H +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2387400	NM_018217.3(EDEM2):c.978T>G (p.Ile326Met)	MMP24-AS1-EDEM2, EDEM2 (I285M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2348748	NM_018217.3(EDEM2):c.656G>C (p.Arg219Thr)	MMP24-AS1-EDEM2, EDEM2 (R219T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2265855	NM_018217.3(EDEM2):c.341C>G (p.Ser114Cys)	MMP24-AS1-EDEM2, EDEM2 (S114C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2302986	NM_018217.3(EDEM2):c.260T>C (p.Ile87Thr)	MMP24-AS1-EDEM2, EDEM2 (I46T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	MAP1LC3A, MIR499A +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 43