E2F8[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 790408	NM_024680.4(E2F8):c.2534A>G (p.Asn845Ser)	CSRP3-AS1, E2F8 (N845S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2545208	NM_024680.4(E2F8):c.2474G>A (p.Arg825His)	CSRP3-AS1, E2F8 (R825H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086778	NM_024680.4(E2F8):c.2363C>A (p.Pro788Gln)	CSRP3-AS1, E2F8 (P788Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709992	NM_024680.4(E2F8):c.2310C>T (p.Val770=)	CSRP3-AS1, E2F8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2542244	NM_024680.4(E2F8):c.2306A>G (p.Asn769Ser)	CSRP3-AS1, E2F8 (N769S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621287	NM_024680.4(E2F8):c.2298G>C (p.Glu766Asp)	CSRP3-AS1, E2F8 (E766D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379300	NM_024680.4(E2F8):c.2281G>A (p.Val761Met)	CSRP3-AS1, E2F8 (V761M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469579	NM_024680.4(E2F8):c.2240A>G (p.Asn747Ser)	CSRP3-AS1, E2F8 (N747S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539989	NM_024680.4(E2F8):c.2183A>T (p.Asn728Ile)	CSRP3-AS1, E2F8 (N728I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274303	NM_024680.4(E2F8):c.2155G>A (p.Ala719Thr)	CSRP3-AS1, E2F8 (A719T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320745	NM_024680.4(E2F8):c.2147C>T (p.Pro716Leu)	CSRP3-AS1, E2F8 (P716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280835	NM_024680.4(E2F8):c.2128G>A (p.Val710Ile)	CSRP3-AS1, E2F8 (V710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747979	NM_024680.4(E2F8):c.2091G>A (p.Pro697=)	CSRP3-AS1, E2F8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086777	NM_024680.4(E2F8):c.2090C>T (p.Pro697Leu)	CSRP3-AS1, E2F8 (P697L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086776	NM_024680.4(E2F8):c.2068T>A (p.Phe690Ile)	CSRP3-AS1, E2F8 (F690I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789792	NM_024680.4(E2F8):c.2020A>G (p.Ile674Val)	CSRP3-AS1, E2F8 (I674V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2357049	NM_024680.4(E2F8):c.1999C>G (p.His667Asp)	CSRP3-AS1, E2F8 (H667D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315257	NM_024680.4(E2F8):c.1988T>C (p.Leu663Pro)	CSRP3-AS1, E2F8 (L663P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399288	NM_024680.4(E2F8):c.1963T>C (p.Ser655Pro)	CSRP3-AS1, E2F8 (S655P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086775	NM_024680.4(E2F8):c.1928C>T (p.Thr643Met)	CSRP3-AS1, E2F8 (T643M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274307	NM_024680.4(E2F8):c.1897T>A (p.Leu633Met)	CSRP3-AS1, E2F8 (L633M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789793	NM_024680.4(E2F8):c.1896C>T (p.Thr632=)	CSRP3-AS1, E2F8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2227241	NM_024680.4(E2F8):c.1843T>C (p.Ser615Pro)	CSRP3-AS1, E2F8 (S615P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301280	NM_024680.4(E2F8):c.1769G>A (p.Gly590Glu)	CSRP3-AS1, E2F8 (G590E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086774	NM_024680.4(E2F8):c.1691A>C (p.Glu564Ala)	CSRP3-AS1, E2F8 (E564A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381951	NM_024680.4(E2F8):c.1642C>T (p.His548Tyr)	CSRP3-AS1, E2F8 (H548Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274305	NM_024680.4(E2F8):c.1604C>T (p.Thr535Met)	CSRP3-AS1, E2F8 (T535M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086773	NM_024680.4(E2F8):c.1520C>A (p.Ala507Glu)	CSRP3-AS1, E2F8 (A507E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517087	NM_024680.4(E2F8):c.1490T>A (p.Val497Asp)	CSRP3-AS1, E2F8 (V497D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471101	NM_024680.4(E2F8):c.1460C>T (p.Ala487Val)	CSRP3-AS1, E2F8 (A487V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479659	NM_024680.4(E2F8):c.1400G>A (p.Gly467Glu)	CSRP3-AS1, E2F8 (G467E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086772	NM_024680.4(E2F8):c.1375G>A (p.Val459Met)	CSRP3-AS1, E2F8 (V459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274309	NM_024680.4(E2F8):c.1264A>T (p.Asn422Tyr)	CSRP3-AS1, E2F8 (N422Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086771	NM_024680.4(E2F8):c.1222C>T (p.Arg408Trp)	CSRP3-AS1, E2F8 (R408W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086770	NM_024680.4(E2F8):c.1202T>C (p.Val401Ala)	CSRP3-AS1, E2F8 (V401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332875	NM_024680.4(E2F8):c.1193T>C (p.Ile398Thr)	CSRP3-AS1, E2F8 (I398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316698	NM_024680.4(E2F8):c.1178G>A (p.Arg393Gln)	CSRP3-AS1, E2F8 (R393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086769	NM_024680.4(E2F8):c.1127A>T (p.Glu376Val)	CSRP3-AS1, E2F8 (E376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330137	NM_024680.4(E2F8):c.1115G>A (p.Arg372Gln)	CSRP3-AS1, E2F8 (R372Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215681	NM_024680.4(E2F8):c.1108G>C (p.Val370Leu)	CSRP3-AS1, E2F8 (V370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588636	NM_024680.4(E2F8):c.1084C>G (p.His362Asp)	CSRP3-AS1, E2F8 (H362D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776601	NM_024680.4(E2F8):c.1073G>C (p.Ser358Thr)	CSRP3-AS1, E2F8 (S358T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2491550	NM_024680.4(E2F8):c.1063A>G (p.Ser355Gly)	CSRP3-AS1, E2F8 (S355G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742105	NM_024680.4(E2F8):c.1038C>T (p.Thr346=)	CSRP3-AS1, E2F8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086785	NM_024680.4(E2F8):c.971G>A (p.Ser324Asn)	CSRP3-AS1, E2F8 +1 more (S324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290545	NM_024680.4(E2F8):c.896A>C (p.His299Pro)	CSRP3-AS1, E2F8 (H299P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365966	NM_024680.4(E2F8):c.884T>C (p.Ile295Thr)	CSRP3-AS1, E2F8 (I295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086784	NM_024680.4(E2F8):c.851T>C (p.Ile284Thr)	CSRP3-AS1, E2F8 (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086783	NM_024680.4(E2F8):c.758T>G (p.Phe253Cys)	CSRP3-AS1, E2F8 (F253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359220	NM_024680.4(E2F8):c.751G>A (p.Val251Met)	CSRP3-AS1, E2F8 (V251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553215	NM_024680.4(E2F8):c.749G>A (p.Gly250Glu)	CSRP3-AS1, E2F8 (G250E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708138	NM_024680.4(E2F8):c.692T>C (p.Ile231Thr)	CSRP3-AS1, E2F8 (I231T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3086782	NM_024680.4(E2F8):c.679G>A (p.Glu227Lys)	CSRP3-AS1, E2F8 (E227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520430	NM_024680.4(E2F8):c.635A>G (p.Lys212Arg)	CSRP3-AS1, E2F8 (K212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274308	NM_024680.4(E2F8):c.624G>C (p.Met208Ile)	CSRP3-AS1, E2F8 (M208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086781	NM_024680.4(E2F8):c.610G>A (p.Glu204Lys)	CSRP3-AS1, E2F8 (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086780	NM_024680.4(E2F8):c.285C>G (p.Asp95Glu)	CSRP3-AS1, E2F8 (D95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298113	NM_024680.4(E2F8):c.275A>C (p.Glu92Ala)	CSRP3-AS1, E2F8 (E92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086779	NM_024680.4(E2F8):c.242G>T (p.Arg81Met)	CSRP3-AS1, E2F8 (R81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786190	NM_024680.4(E2F8):c.204T>C (p.Ser68=)	CSRP3-AS1, E2F8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291111	NM_024680.4(E2F8):c.146A>G (p.Lys49Arg)	CSRP3-AS1, E2F8 (K49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274304	NM_024680.4(E2F8):c.139A>G (p.Lys47Glu)	CSRP3-AS1, E2F8 (K47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556801	NM_024680.4(E2F8):c.133C>T (p.Pro45Ser)	CSRP3-AS1, E2F8 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781219	NM_024680.4(E2F8):c.78C>T (p.Thr26=)	CSRP3-AS1, E2F8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688658	GRCh37/hg19 11p15.1(chr11:18894624-19554521)x3	CSRP3, E2F8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 78