USP24[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 722918	NM_015306.3(USP24):c.7569C>T (p.His2523=)	USP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 599595	NM_015306.3(USP24):c.7448-7C>T	USP24	Single nucleotide variant (intron variant)	Short stature	GLikely pathogenic
Select item 2406140	NM_015306.3(USP24):c.7322T>A (p.Leu2441Gln)	USP24 (L2441Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262088	NM_015306.3(USP24):c.7315A>G (p.Asn2439Asp)	USP24 (N2439D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353355	NM_015306.3(USP24):c.7297A>G (p.Met2433Val)	USP24 (M2433V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528441	NM_015306.3(USP24):c.7292T>A (p.Phe2431Tyr)	USP24 (F2431Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483869	NM_015306.3(USP24):c.7124C>T (p.Ser2375Leu)	USP24 (S2375L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255621	NM_015306.3(USP24):c.7100G>A (p.Arg2367Gln)	USP24 (R2367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616640	NM_015306.3(USP24):c.7087A>G (p.Ile2363Val)	USP24 (I2363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601946	NM_015306.3(USP24):c.7049A>G (p.His2350Arg)	USP24 (H2350R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590780	NM_015306.3(USP24):c.6983G>A (p.Arg2328Gln)	USP24 (R2328Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296234	NM_015306.3(USP24):c.6941G>C (p.Ser2314Thr)	USP24 (S2314T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284980	NM_015306.3(USP24):c.6893G>A (p.Arg2298Lys)	USP24 (R2298K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311954	NM_015306.3(USP24):c.6857T>C (p.Phe2286Ser)	USP24 (F2286S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383818	NM_015306.3(USP24):c.6745G>A (p.Ala2249Thr)	USP24 (A2249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605574	NM_015306.3(USP24):c.6482T>C (p.Met2161Thr)	USP24 (M2161T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526885	NM_015306.3(USP24):c.6392G>A (p.Arg2131Lys)	USP24 (R2131K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554859	NM_015306.3(USP24):c.6178C>T (p.Arg2060Trp)	USP24 (R2060W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350947	NM_015306.3(USP24):c.6007A>G (p.Thr2003Ala)	USP24 (T2003A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588676	NM_015306.3(USP24):c.5837A>T (p.Lys1946Ile)	USP24 (K1946I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545382	NM_015306.3(USP24):c.5798G>A (p.Gly1933Glu)	USP24 (G1933E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638841	NM_015306.3(USP24):c.5646A>G (p.Val1882=)	USP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529410	NM_015306.3(USP24):c.5580A>C (p.Glu1860Asp)	USP24 (E1860D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244801	NM_015306.3(USP24):c.5567C>T (p.Ala1856Val)	USP24 (A1856V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342833	NM_015306.3(USP24):c.5501C>G (p.Ser1834Cys)	USP24 (S1834C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770846	NM_015306.3(USP24):c.4683G>A (p.Ala1561=)	USP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2285247	NM_015306.3(USP24):c.4640A>G (p.Asn1547Ser)	USP24 (N1547S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223989	NM_015306.3(USP24):c.4454C>T (p.Thr1485Met)	USP24 (T1485M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402491	NM_015306.3(USP24):c.4352G>A (p.Arg1451His)	USP24 (R1451H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333978	NM_015306.3(USP24):c.4159G>T (p.Ala1387Ser)	USP24 (A1387S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203982	NM_015306.3(USP24):c.4091C>T (p.Ala1364Val)	USP24 (A1364V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362189	NM_015306.3(USP24):c.4060C>T (p.Pro1354Ser)	USP24 (P1354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596729	NM_015306.3(USP24):c.3983C>G (p.Thr1328Ser)	USP24 (T1328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364228	NM_015306.3(USP24):c.3878C>T (p.Ser1293Leu)	USP24 (S1293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363591	NM_015306.3(USP24):c.3628G>A (p.Gly1210Ser)	USP24 (G1210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331041	NM_015306.3(USP24):c.2927A>G (p.Glu976Gly)	USP24 (E976G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245888	NM_015306.3(USP24):c.2897A>G (p.Tyr966Cys)	USP24 (Y966C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390743	NM_015306.3(USP24):c.2874T>G (p.His958Gln)	USP24 (H958Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314477	NM_015306.3(USP24):c.2872C>T (p.His958Tyr)	USP24 (H958Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332848	NM_015306.3(USP24):c.2837G>A (p.Arg946Gln)	USP24 (R946Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599596	NM_015306.3(USP24):c.2747A>T (p.Tyr916Phe)	USP24 (Y916F)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599597	NM_015306.3(USP24):c.2491A>G (p.Met831Val)	USP24 (M831V)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 2321673	NM_015306.3(USP24):c.2414G>A (p.Arg805Gln)	USP24 (R805Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786462	NM_015306.3(USP24):c.2176C>T (p.Leu726=)	USP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2285246	NM_015306.3(USP24):c.1972A>G (p.Ile658Val)	USP24 (I658V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785938	NM_015306.3(USP24):c.1959G>A (p.Lys653=)	USP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2619895	NM_015306.3(USP24):c.1832T>C (p.Leu611Ser)	USP24 (L611S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535426	NM_015306.3(USP24):c.1753G>T (p.Ala585Ser)	USP24 (A585S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549733	NM_015306.3(USP24):c.1556G>T (p.Ser519Ile)	USP24 (S519I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615715	NM_015306.3(USP24):c.1531C>T (p.His511Tyr)	USP24 (H511Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235734	NM_015306.3(USP24):c.1504G>A (p.Val502Met)	USP24 (V502M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478710	NM_015306.3(USP24):c.1483A>G (p.Thr495Ala)	USP24 (T495A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286731	NM_015306.3(USP24):c.1238T>G (p.Leu413Arg)	USP24 (L413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224585	NM_015306.3(USP24):c.1130C>T (p.Pro377Leu)	USP24 (P377L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329368	NM_015306.3(USP24):c.1121G>A (p.Arg374His)	USP24 (R374H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211166	NM_015306.3(USP24):c.540G>T (p.Met180Ile)	USP24 (M180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770847	NM_015306.3(USP24):c.472A>G (p.Thr158Ala)	USP24 (T158A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2534717	NM_015306.3(USP24):c.223G>A (p.Gly75Arg)	LOC129930598, USP24 (G75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534716	NM_015306.3(USP24):c.208C>T (p.Pro70Ser)	LOC129930598, USP24 (P70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601108	NM_015306.3(USP24):c.128A>G (p.Asn43Ser)	USP24 (N43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525300	NM_015306.3(USP24):c.67A>G (p.Ile23Val)	LOC129930599, USP24 (I23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346521	NM_015306.3(USP24):c.23A>G (p.His8Arg)	LOC129930599, USP24 (H8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250368	NM_015306.3(USP24):c.13G>C (p.Glu5Gln)	LOC129930599, USP24 (E5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 980378	GRCh37/hg19 1p32.3-32.2(chr1:55624170-56204822)x3	USP24	Copy number gain	not provided	GUncertain significance
Select item 689159	GRCh37/hg19 1p32.3-32.2(chr1:55623897-56180866)x3	USP24	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565099	GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3	ACOT11, BSND +10 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 77