E2F6[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153652	GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3	E2F6, GREB1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2303627	NM_198256.4(E2F6):c.821A>C (p.Glu274Ala)	E2F6 (E199A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086754	NM_198256.4(E2F6):c.773G>A (p.Ser258Asn)	E2F6 (S258N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086753	NM_198256.4(E2F6):c.616G>A (p.Ala206Thr)	E2F6 (A206T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286481	NM_198256.4(E2F6):c.447C>G (p.Asp149Glu)	E2F6 (D149E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086752	NM_198256.4(E2F6):c.397A>G (p.Asn133Asp)	E2F6 (N101D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228140	NM_198256.4(E2F6):c.323A>G (p.Asn108Ser)	E2F6 (N108S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086751	NM_198256.4(E2F6):c.296G>A (p.Arg99Gln)	E2F6 (R24Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379904	NM_198256.4(E2F6):c.281C>T (p.Thr94Met)	E2F6 (T19M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086755	NM_198256.4(E2F6):c.92A>C (p.Asn31Thr)	E2F6 (N31T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304013	NM_198256.4(E2F6):c.86C>T (p.Pro29Leu)	E2F6 (P29L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320129	NM_198256.4(E2F6):c.73C>T (p.Arg25Trp)	E2F6 (R25W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808113	GRCh37/hg19 2p25.1(chr2:11410615-12064438)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527781	GRCh37/hg19 2p25.1(chr2:11410614-12064438)	E2F6, GREB1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 979983	GRCh37/hg19 2p25.1-24.3(chr2:11144226-12569011)x3	E2F6, SLC66A3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 979982	GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3	NTSR2, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686819	GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686314	GRCh37/hg19 2p25.1(chr2:11405245-12054698)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402129	GRCh37/hg19 2p25.1-24.3(chr2:11142721-12660466)x1	LINC00570, NTSR2 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 42