ClinVar for Gene (Select 1875) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086750	NM_001951.4(E2F5):c.92A>G (p.Gln31Arg)	E2F5, LOC130000687 (Q31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086749	NM_001951.4(E2F5):c.853C>A (p.Gln285Lys)	E2F5 (Q124K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086748	NM_001951.4(E2F5):c.827A>C (p.His276Pro)	E2F5 (H276P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086747	NM_001951.4(E2F5):c.694G>C (p.Glu232Gln)	E2F5 (E232Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086746	NM_001951.4(E2F5):c.139G>A (p.Gly47Ser)	E2F5, LOC130000687 (G47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684547	GRCh37/hg19 8q21.2(chr8:86060380-86553118)x3	CA1, CA13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2606519	NM_001951.4(E2F5):c.470G>A (p.Ser157Asn)	E2F5 (S157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545448	NM_001951.4(E2F5):c.243T>A (p.Asp81Glu)	E2F5 (D81E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531295	NM_001951.4(E2F5):c.211G>A (p.Asp71Asn)	E2F5, LOC130000688 (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	ATP6V0D2, CA1 +12 more	Duplication	not provided	GUncertain significance
Select item 2361092	NM_001951.4(E2F5):c.549T>A (p.Asn183Lys)	E2F5 (N22K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316148	NM_001951.4(E2F5):c.124G>A (p.Gly42Arg)	E2F5, LOC130000687 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288866	NM_001951.4(E2F5):c.574G>T (p.Ala192Ser)	E2F5 (A31S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285386	NM_001951.4(E2F5):c.233C>A (p.Ala78Glu)	E2F5, LOC130000688 (A78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277850	NM_001951.4(E2F5):c.531C>A (p.Asp177Glu)	E2F5 (D16E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276425	NM_001951.4(E2F5):c.974A>T (p.Tyr325Phe)	E2F5 (Y164F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270148	NM_001951.4(E2F5):c.621G>C (p.Gln207His)	E2F5 (Q46H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251714	NM_001951.4(E2F5):c.381A>G (p.Ile127Met)	E2F5 (I127M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234665	NM_001951.4(E2F5):c.903T>A (p.Asp301Glu)	E2F5 (D140E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809213	GRCh37/hg19 8q21.13-21.2(chr8:83705217-86441492)x1	CA1, CA13 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 815141	GRCh37/hg19 8q21.2(chr8:85635587-86553130)x3	CA3, CA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815140	GRCh37/hg19 8q21.13-21.2(chr8:83541683-86091081)x3	RALYL, E2F5 +1 more	Copy number gain	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687018	GRCh37/hg19 8q21.13-21.2(chr8:83541047-86097857)x3	E2F5, LRRCC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686594	GRCh37/hg19 8q21.2(chr8:86114785-86214050)x1	CA13, E2F5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685054	GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	ATP6V0D2, CA1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 147729	GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1	CA1, CA13 +25 more	Copy number loss	See cases	GUncertain significance
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58