E2F4[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 2610640	NM_001950.4(E2F4):c.5C>G (p.Ala2Gly)	E2F4 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086743	NM_001950.4(E2F4):c.14G>T (p.Gly5Val)	E2F4 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265533	NM_001950.4(E2F4):c.44C>G (p.Pro15Arg)	E2F4 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392324	NM_001950.4(E2F4):c.316G>A (p.Glu106Lys)	E2F4 (E106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622027	NM_001950.4(E2F4):c.401A>G (p.Asn134Ser)	E2F4 (N134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356999	NM_001950.4(E2F4):c.515G>T (p.Gly172Val)	E2F4 (G172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086744	NM_001950.4(E2F4):c.517C>T (p.Leu173Phe)	E2F4 (L173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274293	NM_001950.4(E2F4):c.557T>C (p.Val186Ala)	E2F4 (V186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272292	NM_001950.4(E2F4):c.626T>A (p.Val209Glu)	E2F4 (V209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272293	NM_001950.4(E2F4):c.629C>A (p.Pro210Gln)	E2F4 (P210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272294	NM_001950.4(E2F4):c.634C>T (p.Pro212Ser)	E2F4 (P212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086745	NM_001950.4(E2F4):c.716C>G (p.Ala239Gly)	E2F4 (A239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513865	NM_001950.4(E2F4):c.721C>T (p.Arg241Cys)	E2F4 (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372134	NM_001950.4(E2F4):c.722G>A (p.Arg241His)	E2F4 (R241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312035	NM_001950.4(E2F4):c.814G>A (p.Gly272Ser)	E2F4 (G272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496445	NM_001950.4(E2F4):c.902C>G (p.Ser301Cys)	E2F4 (S301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646614	NM_001950.4(E2F4):c.920GCA[11] (p.Ser318_Ser319del)	E2F4	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2375542	NM_001950.4(E2F4):c.956G>A (p.Ser319Asn)	E2F4 (S319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274291	NM_001950.4(E2F4):c.1009C>G (p.Pro337Ala)	E2F4 (P337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331421	NM_001950.4(E2F4):c.1024C>A (p.Pro342Thr)	E2F4 (P342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274292	NM_001950.4(E2F4):c.1049A>G (p.Lys350Arg)	E2F4 (K350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086742	NM_001950.4(E2F4):c.1065C>G (p.Ile355Met)	E2F4 (I355M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483983	NM_001950.4(E2F4):c.1189G>A (p.Asp397Asn)	E2F4 (D397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523049	NM_001950.4(E2F4):c.1194G>C (p.Glu398Asp)	E2F4 (E398D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274803	NC_000016.10:g.67199363A>C	E2F4, ELMO3 (K13Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 59