USP24[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +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	ACOT11, AK4 +421 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 3187301	NM_015306.3(USP24):c.7455G>A (p.Met2485Ile)	USP24 (M2485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2262088	NM_015306.3(USP24):c.7315A>G (p.Asn2439Asp)	USP24 (N2439D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353355	NM_015306.3(USP24):c.7297A>G (p.Met2433Val)	USP24 (M2433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528441	NM_015306.3(USP24):c.7292T>A (p.Phe2431Tyr)	USP24 (F2431Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331396	NM_015306.3(USP24):c.7217G>A (p.Arg2406Gln)	USP24 (R2406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187300	NM_015306.3(USP24):c.7181G>C (p.Gly2394Ala)	USP24 (G2394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483869	NM_015306.3(USP24):c.7124C>T (p.Ser2375Leu)	USP24 (S2375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255621	NM_015306.3(USP24):c.7100G>A (p.Arg2367Gln)	USP24 (R2367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616640	NM_015306.3(USP24):c.7087A>G (p.Ile2363Val)	USP24 (I2363V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601946	NM_015306.3(USP24):c.7049A>G (p.His2350Arg)	USP24 (H2350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590780	NM_015306.3(USP24):c.6983G>A (p.Arg2328Gln)	USP24 (R2328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187299	NM_015306.3(USP24):c.6980G>A (p.Arg2327His)	USP24 (R2327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296234	NM_015306.3(USP24):c.6941G>C (p.Ser2314Thr)	USP24 (S2314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284980	NM_015306.3(USP24):c.6893G>A (p.Arg2298Lys)	USP24 (R2298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311954	NM_015306.3(USP24):c.6857T>C (p.Phe2286Ser)	USP24 (F2286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383818	NM_015306.3(USP24):c.6745G>A (p.Ala2249Thr)	USP24 (A2249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187297	NM_015306.3(USP24):c.6686G>A (p.Cys2229Tyr)	USP24 (C2229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187296	NM_015306.3(USP24):c.6584T>C (p.Ile2195Thr)	USP24 (I2195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605574	NM_015306.3(USP24):c.6482T>C (p.Met2161Thr)	USP24 (M2161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526885	NM_015306.3(USP24):c.6392G>A (p.Arg2131Lys)	USP24 (R2131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331398	NM_015306.3(USP24):c.6336G>C (p.Met2112Ile)	USP24 (M2112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554859	NM_015306.3(USP24):c.6178C>T (p.Arg2060Trp)	USP24 (R2060W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187295	NM_015306.3(USP24):c.6172G>A (p.Val2058Ile)	USP24 (V2058I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350947	NM_015306.3(USP24):c.6007A>G (p.Thr2003Ala)	USP24 (T2003A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588676	NM_015306.3(USP24):c.5837A>T (p.Lys1946Ile)	USP24 (K1946I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187294	NM_015306.3(USP24):c.5827T>C (p.Ser1943Pro)	USP24 (S1943P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545382	NM_015306.3(USP24):c.5798G>A (p.Gly1933Glu)	USP24 (G1933E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187293	NM_015306.3(USP24):c.5774C>A (p.Ser1925Tyr)	USP24 (S1925Y)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2244801	NM_015306.3(USP24):c.5567C>T (p.Ala1856Val)	USP24 (A1856V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342833	NM_015306.3(USP24):c.5501C>G (p.Ser1834Cys)	USP24 (S1834C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187292	NM_015306.3(USP24):c.5219G>A (p.Gly1740Glu)	USP24 (G1740E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331402	NM_015306.3(USP24):c.4895A>G (p.Asn1632Ser)	USP24 (N1632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187291	NM_015306.3(USP24):c.4852G>T (p.Ala1618Ser)	USP24 (A1618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187290	NM_015306.3(USP24):c.4691T>C (p.Ile1564Thr)	USP24 (I1564T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2223989	NM_015306.3(USP24):c.4454C>T (p.Thr1485Met)	USP24 (T1485M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402491	NM_015306.3(USP24):c.4352G>A (p.Arg1451His)	USP24 (R1451H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187288	NM_015306.3(USP24):c.4165C>T (p.His1389Tyr)	USP24 (H1389Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333978	NM_015306.3(USP24):c.4159G>T (p.Ala1387Ser)	USP24 (A1387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331394	NM_015306.3(USP24):c.4112G>A (p.Ser1371Asn)	USP24 (S1371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203982	NM_015306.3(USP24):c.4091C>T (p.Ala1364Val)	USP24 (A1364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362189	NM_015306.3(USP24):c.4060C>T (p.Pro1354Ser)	USP24 (P1354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596729	NM_015306.3(USP24):c.3983C>G (p.Thr1328Ser)	USP24 (T1328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364228	NM_015306.3(USP24):c.3878C>T (p.Ser1293Leu)	USP24 (S1293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331404	NM_015306.3(USP24):c.3699G>C (p.Gln1233His)	USP24 (Q1233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363591	NM_015306.3(USP24):c.3628G>A (p.Gly1210Ser)	USP24 (G1210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331403	NM_015306.3(USP24):c.3394T>G (p.Ser1132Ala)	USP24 (S1132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187285	NM_015306.3(USP24):c.3230C>T (p.Ala1077Val)	USP24 (A1077V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187284	NM_015306.3(USP24):c.3145A>G (p.Thr1049Ala)	USP24 (T1049A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187283	NM_015306.3(USP24):c.2986T>C (p.Ser996Pro)	USP24 (S996P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331041	NM_015306.3(USP24):c.2927A>G (p.Glu976Gly)	USP24 (E976G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245888	NM_015306.3(USP24):c.2897A>G (p.Tyr966Cys)	USP24 (Y966C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390743	NM_015306.3(USP24):c.2874T>G (p.His958Gln)	USP24 (H958Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314477	NM_015306.3(USP24):c.2872C>T (p.His958Tyr)	USP24 (H958Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332848	NM_015306.3(USP24):c.2837G>A (p.Arg946Gln)	USP24 (R946Q)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3187281	NM_015306.3(USP24):c.1753G>A (p.Ala585Thr)	USP24 (A585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535426	NM_015306.3(USP24):c.1753G>T (p.Ala585Ser)	USP24 (A585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187280	NM_015306.3(USP24):c.1700G>A (p.Ser567Asn)	USP24 (S567N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187279	NM_015306.3(USP24):c.1671A>T (p.Glu557Asp)	USP24 (E557D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331395	NM_015306.3(USP24):c.1599C>A (p.Ser533Arg)	USP24 (S533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549733	NM_015306.3(USP24):c.1556G>T (p.Ser519Ile)	USP24 (S519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615715	NM_015306.3(USP24):c.1531C>T (p.His511Tyr)	USP24 (H511Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235734	NM_015306.3(USP24):c.1504G>A (p.Val502Met)	USP24 (V502M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478710	NM_015306.3(USP24):c.1483A>G (p.Thr495Ala)	USP24 (T495A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187278	NM_015306.3(USP24):c.1418A>G (p.Asp473Gly)	USP24 (D473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187277	NM_015306.3(USP24):c.1279A>G (p.Ile427Val)	USP24 (I427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286731	NM_015306.3(USP24):c.1238T>G (p.Leu413Arg)	USP24 (L413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331397	NM_015306.3(USP24):c.1232C>A (p.Thr411Asn)	USP24 (T411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224585	NM_015306.3(USP24):c.1130C>T (p.Pro377Leu)	USP24 (P377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329368	NM_015306.3(USP24):c.1121G>A (p.Arg374His)	USP24 (R374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331401	NM_015306.3(USP24):c.1110A>C (p.Leu370Phe)	USP24 (L370F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187276	NM_015306.3(USP24):c.1037G>A (p.Arg346Gln)	USP24 (R346Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331400	NM_015306.3(USP24):c.812C>T (p.Ser271Leu)	USP24 (S271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331399	NM_015306.3(USP24):c.805C>T (p.Pro269Ser)	USP24 (P269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211166	NM_015306.3(USP24):c.540G>T (p.Met180Ile)	USP24 (M180I)	Single nucleotide variant (missense variant)	not specified	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 3187289	NM_015306.3(USP24):c.457T>C (p.Cys153Arg)	USP24 (C153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187287	NM_015306.3(USP24):c.397A>G (p.Ser133Gly)	USP24 (S133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187286	NM_015306.3(USP24):c.374C>A (p.Thr125Lys)	USP24 (T125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534717	NM_015306.3(USP24):c.223G>A (p.Gly75Arg)	LOC129930598, USP24 (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534716	NM_015306.3(USP24):c.208C>T (p.Pro70Ser)	LOC129930598, USP24 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601108	NM_015306.3(USP24):c.128A>G (p.Asn43Ser)	USP24 (N43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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