E2F1[gene] - ClinVar

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Items: 47

	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 3055516	NM_005225.3(E2F1):c.*5G>T	E2F1	Single nucleotide variant (3 prime UTR variant)	E2F1-related disorder	GBenign
Select item 3050503	NM_005225.3(E2F1):c.1245C>T (p.Leu415=)	E2F1	Single nucleotide variant (synonymous variant)	E2F1-related disorder	GLikely benign
Select item 3043057	NM_005225.3(E2F1):c.1239C>T (p.Phe413=)	E2F1	Single nucleotide variant (synonymous variant)	E2F1-related disorder	GLikely benign
Select item 2480219	NM_005225.3(E2F1):c.1187C>G (p.Pro396Arg)	E2F1 (P396R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041546	NM_005225.3(E2F1):c.1177G>A (p.Gly393Ser)	E2F1 (G393S)	Single nucleotide variant (missense variant)	E2F1-related disorder	GBenign
Select item 3033085	NM_005225.3(E2F1):c.1176C>T (p.Ser392=)	E2F1	Single nucleotide variant (synonymous variant)	E2F1-related disorder	GLikely benign
Select item 3086731	NM_005225.3(E2F1):c.1145C>T (p.Ser382Leu)	E2F1 (S382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538634	NM_005225.3(E2F1):c.1141G>A (p.Asp381Asn)	E2F1 (D381N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713735	NM_005225.3(E2F1):c.1137G>A (p.Ala379=)	E2F1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086730	NM_005225.3(E2F1):c.1028C>T (p.Thr343Ile)	E2F1 (T343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043775	NM_005225.3(E2F1):c.1017C>T (p.Pro339=)	E2F1	Single nucleotide variant (synonymous variant)	E2F1-related disorder	GLikely benign
Select item 3274280	NM_005225.3(E2F1):c.958G>A (p.Glu320Lys)	E2F1 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719834	NM_005225.3(E2F1):c.826G>A (p.Val276Met)	E2F1 (V276M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741802	NM_005225.3(E2F1):c.825C>T (p.Ala275=)	E2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037820	NM_005225.3(E2F1):c.741G>A (p.Thr247=)	E2F1	Single nucleotide variant (synonymous variant)	E2F1-related disorder	GBenign
Select item 3041382	NM_005225.3(E2F1):c.598G>A (p.Gly200Ser)	E2F1 (G200S)	Single nucleotide variant (missense variant)	E2F1-related disorder	GBenign
Select item 219310	NM_005225.3(E2F1):c.497G>A (p.Arg166His)	E2F1 (R166H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3274279	NM_005225.3(E2F1):c.362C>A (p.Ser121Tyr)	E2F1 (S121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785835	NM_005225.3(E2F1):c.304G>A (p.Ala102Thr)	E2F1 (A102T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785836	NM_005225.3(E2F1):c.261+10C>T	E2F1, LOC130065689	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734667	NM_005225.3(E2F1):c.234G>C (p.Ala78=)	E2F1, LOC130065689	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545207	NM_005225.3(E2F1):c.232G>T (p.Ala78Ser)	E2F1, LOC130065689 (A78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086733	NM_005225.3(E2F1):c.231T>G (p.Ser77Arg)	E2F1, LOC130065689 (S77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332142	NM_005225.3(E2F1):c.226C>T (p.Pro76Ser)	E2F1, LOC130065689 (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527554	NM_005225.3(E2F1):c.199G>C (p.Ala67Pro)	E2F1, LOC130065689 (A67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086732	NM_005225.3(E2F1):c.182C>G (p.Pro61Arg)	E2F1, LOC130065689 (P61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774257	NM_005225.3(E2F1):c.147C>G (p.Thr49=)	E2F1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781478	NM_005225.3(E2F1):c.111C>T (p.Ser37=)	E2F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245316	NM_005225.3(E2F1):c.61G>C (p.Gly21Arg)	E2F1 (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729545	NM_005225.3(E2F1):c.34T>A (p.Cys12Ser)	E2F1, LOC130065690 (C12S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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: 47