EIF2S2[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +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 740617	NM_003908.5(EIF2S2):c.987T>C (p.Arg329=)	EIF2S2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282027	NM_003908.5(EIF2S2):c.985C>T (p.Arg329Cys)	EIF2S2 (R310C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239887	NM_003908.5(EIF2S2):c.582G>C (p.Met194Ile)	EIF2S2 (M191I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746894	NM_003908.5(EIF2S2):c.528C>T (p.Tyr176=)	EIF2S2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3274977	NM_003908.5(EIF2S2):c.481A>C (p.Asn161His)	EIF2S2 (N161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732335	NM_003908.5(EIF2S2):c.132G>C (p.Val44=)	EIF2S2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
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 816125	GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	PIGU, E2F1 +16 more	Copy number gain	not provided	GUncertain significance
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 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	CBFA2T2, CHMP4B +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 564635	GRCh37/hg19 20q11.22(chr20:32436483-33276757)x3	ITCH, AHCY +7 more	Copy number gain	not provided	GLikely benign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +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: 24