ADHFE1[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	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
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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 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 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	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 3273142	NM_144650.3(ADHFE1):c.17G>A (p.Arg6Gln)	ADHFE1, LOC130000529 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379263	NM_144650.3(ADHFE1):c.25G>C (p.Val9Leu)	ADHFE1, LOC130000529 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383793	NM_144650.3(ADHFE1):c.89A>G (p.Tyr30Cys)	ADHFE1 (Y30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469762	NM_144650.3(ADHFE1):c.305T>C (p.Ile102Thr)	ADHFE1 (I102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089314	NM_144650.3(ADHFE1):c.407C>A (p.Ala136Asp)	ADHFE1 (A136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232665	NM_144650.3(ADHFE1):c.539C>T (p.Pro180Leu)	ADHFE1 (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319130	NM_144650.3(ADHFE1):c.556A>G (p.Thr186Ala)	ADHFE1 (T186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251964	NM_144650.3(ADHFE1):c.626T>A (p.Ile209Asn)	ADHFE1 (I209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089325	NM_144650.3(ADHFE1):c.661G>A (p.Gly221Arg)	ADHFE1 (G221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273135	NM_144650.3(ADHFE1):c.691A>C (p.Met231Leu)	ADHFE1 (M231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295652	NM_144650.3(ADHFE1):c.701G>A (p.Arg234Gln)	ADHFE1 (R234Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408232	NM_144650.3(ADHFE1):c.752A>G (p.Tyr251Cys)	ADHFE1 (Y251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250261	NM_144650.3(ADHFE1):c.776G>A (p.Arg259Gln)	ADHFE1 (R259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359386	NM_144650.3(ADHFE1):c.806G>A (p.Arg269Gln)	ADHFE1 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273114	NM_144650.3(ADHFE1):c.892G>T (p.Val298Phe)	ADHFE1 (V298F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089344	NM_144650.3(ADHFE1):c.968A>T (p.Asn323Ile)	ADHFE1 (N323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273124	NM_144650.3(ADHFE1):c.973G>A (p.Gly325Ser)	ADHFE1 (G325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 624332	NM_144650.3(ADHFE1):c.1001dup (p.Tyr334Ter)	ADHFE1 (Y334*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2555751	NM_144650.3(ADHFE1):c.1069C>T (p.His357Tyr)	ADHFE1 (H357Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608801	NM_144650.3(ADHFE1):c.1081G>A (p.Val361Met)	ADHFE1 (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236816	NM_144650.3(ADHFE1):c.1100C>T (p.Ala367Val)	ADHFE1 (A367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089293	NM_144650.3(ADHFE1):c.1111T>C (p.Phe371Leu)	ADHFE1 (F371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603152	NM_144650.3(ADHFE1):c.1117G>A (p.Ala373Thr)	ADHFE1 (A373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465875	NM_144650.3(ADHFE1):c.1174C>T (p.Arg392Cys)	ADHFE1 (R392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477953	NM_144650.3(ADHFE1):c.1319A>T (p.Gln440Leu)	ADHFE1 (Q440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368963	NM_144650.3(ADHFE1):c.1324A>G (p.Arg442Gly)	ADHFE1 (R442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340437	NM_144650.3(ADHFE1):c.1327G>T (p.Val443Phe)	ADHFE1 (V443F)	Single nucleotide variant (missense variant)	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 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
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 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
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

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Items: 53