USP34[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 230

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
Select item 3187439	NM_014709.4(USP34):c.10594C>G (p.His3532Asp)	USP34 (H3532D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 723882	NM_014709.4(USP34):c.10567C>T (p.Leu3523=)	USP34	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2530998	NM_014709.4(USP34):c.10565C>T (p.Thr3522Ile)	USP34 (T3522I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2259970	NM_014709.4(USP34):c.10531T>C (p.Phe3511Leu)	USP34 (F3511L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279369	NM_014709.4(USP34):c.10522A>G (p.Arg3508Gly)	USP34 (R3508G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2229017	NM_014709.4(USP34):c.10481A>G (p.Gln3494Arg)	USP34 (Q3494R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3187438	NM_014709.4(USP34):c.10469C>G (p.Ala3490Gly)	USP34 (A3490G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 712266	NM_014709.4(USP34):c.10459G>C (p.Asp3487His)	USP34 (D3487H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2602511	NM_014709.4(USP34):c.10412C>G (p.Thr3471Ser)	USP34 (T3471S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2255182	NM_014709.4(USP34):c.10387G>A (p.Glu3463Lys)	USP34 (E3463K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1229915	NM_014709.4(USP34):c.10386T>C (p.Ala3462=)	USP34	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3187437	NM_014709.4(USP34):c.10345G>C (p.Glu3449Gln)	USP34 (E3449Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384986	NM_014709.4(USP34):c.10340G>A (p.Cys3447Tyr)	USP34 (C3447Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2252329	NM_014709.4(USP34):c.10286A>T (p.Asn3429Ile)	USP34 (N3429I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622225	NM_014709.4(USP34):c.10094T>C (p.Val3365Ala)	USP34 (V3365A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2242232	NM_014709.4(USP34):c.9890C>G (p.Ala3297Gly)	USP34 (A3297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300533	NM_014709.4(USP34):c.9880A>T (p.Arg3294Trp)	USP34 (R3294W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187477	NM_014709.4(USP34):c.9805T>C (p.Tyr3269His)	USP34 (Y3269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607866	NM_014709.4(USP34):c.9766A>G (p.Asn3256Asp)	USP34 (N3256D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558244	NM_014709.4(USP34):c.9713C>T (p.Thr3238Ile)	USP34 (T3238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328833	NM_014709.4(USP34):c.9700T>A (p.Tyr3234Asn)	USP34 (Y3234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290955	NM_014709.4(USP34):c.9697G>C (p.Val3233Leu)	USP34 (V3233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404340	NM_014709.4(USP34):c.9668A>G (p.Asp3223Gly)	USP34 (D3223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187476	NM_014709.4(USP34):c.9643G>A (p.Glu3215Lys)	USP34 (E3215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354559	NM_014709.4(USP34):c.9640G>A (p.Ala3214Thr)	USP34 (A3214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187475	NM_014709.4(USP34):c.9422A>G (p.Tyr3141Cys)	USP34 (Y3141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294294	NM_014709.4(USP34):c.9397G>A (p.Val3133Ile)	USP34 (V3133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187474	NM_014709.4(USP34):c.9317G>A (p.Ser3106Asn)	USP34 (S3106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317079	NM_014709.4(USP34):c.9208G>A (p.Val3070Ile)	USP34 (V3070I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187473	NM_014709.4(USP34):c.9187C>A (p.His3063Asn)	USP34 (H3063N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304131	NM_014709.4(USP34):c.9136C>T (p.Leu3046Phe)	USP34 (L3046F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362644	NM_014709.4(USP34):c.9112C>G (p.Leu3038Val)	USP34 (L3038V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187472	NM_014709.4(USP34):c.9092C>A (p.Ala3031Asp)	USP34 (A3031D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256616	NM_014709.4(USP34):c.9029C>T (p.Pro3010Leu)	USP34 (P3010L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588532	NM_014709.4(USP34):c.9026G>A (p.Arg3009His)	USP34 (R3009H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260925	NM_014709.4(USP34):c.9008C>T (p.Ser3003Leu)	USP34 (S3003L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650971	NM_014709.4(USP34):c.8897G>A (p.Arg2966Gln)	USP34 (R2966Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650972	NM_014709.4(USP34):c.8890T>G (p.Phe2964Val)	USP34 (F2964V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3187470	NM_014709.4(USP34):c.8881C>T (p.Leu2961Phe)	USP34 (L2961F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275188	NM_014709.4(USP34):c.8881C>A (p.Leu2961Ile)	USP34 (L2961I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984375	NM_014709.4(USP34):c.8048-1053_8840+1025del	USP34	Deletion (splice acceptor variant +1 more)	Chromosome 2p16.1-p15 deletion syndrome	GPathogenic
Select item 2398751	NM_014709.4(USP34):c.8755G>C (p.Glu2919Gln)	USP34 (E2919Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187469	NM_014709.4(USP34):c.8710C>G (p.Gln2904Glu)	USP34 (Q2904E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650973	NM_014709.4(USP34):c.8469A>G (p.Pro2823=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370754	NM_014709.4(USP34):c.8438C>G (p.Pro2813Arg)	USP34 (P2813R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269146	NM_014709.4(USP34):c.8365G>C (p.Glu2789Gln)	USP34 (E2789Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334392	NM_014709.4(USP34):c.8333A>G (p.Asp2778Gly)	USP34 (D2778G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294495	NM_014709.4(USP34):c.8233G>T (p.Ala2745Ser)	USP34 (A2745S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598077	NM_014709.4(USP34):c.8186A>G (p.Asn2729Ser)	USP34 (N2729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394096	NM_014709.4(USP34):c.8027A>G (p.Asn2676Ser)	USP34 (N2676S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275502	NM_014709.4(USP34):c.8009G>A (p.Arg2670Gln)	USP34 (R2670Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615933	NM_014709.4(USP34):c.7786A>G (p.Thr2596Ala)	USP34 (T2596A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544857	NM_014709.4(USP34):c.7724G>A (p.Arg2575Gln)	USP34 (R2575Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187467	NM_014709.4(USP34):c.7651C>G (p.Pro2551Ala)	USP34 (P2551A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248667	NM_014709.4(USP34):c.7579C>A (p.Gln2527Lys)	USP34 (Q2527K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296158	NM_014709.4(USP34):c.7552A>G (p.Ile2518Val)	USP34 (I2518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286806	NM_014709.4(USP34):c.7462T>C (p.Ser2488Pro)	USP34 (S2488P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490520	NM_014709.4(USP34):c.7345T>C (p.Phe2449Leu)	USP34 (F2449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265975	NM_014709.4(USP34):c.7223T>C (p.Val2408Ala)	USP34 (V2408A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299921	NM_014709.4(USP34):c.7217C>T (p.Thr2406Ile)	USP34 (T2406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515456	NM_014709.4(USP34):c.7060G>A (p.Asp2354Asn)	USP34 (D2354N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244943	NM_014709.4(USP34):c.7045C>G (p.Arg2349Gly)	USP34 (R2349G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598084	NM_014709.4(USP34):c.6968C>G (p.Pro2323Arg)	USP34 (P2323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367498	NM_014709.4(USP34):c.6833C>A (p.Thr2278Lys)	USP34 (T2278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276331	NM_014709.4(USP34):c.6746A>G (p.Tyr2249Cys)	USP34 (Y2249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604762	NM_014709.4(USP34):c.6715A>G (p.Met2239Val)	USP34 (M2239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1284128	NM_014709.4(USP34):c.6711A>G (p.Lys2237=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187464	NM_014709.4(USP34):c.6578C>T (p.Pro2193Leu)	USP34 (P2193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187463	NM_014709.4(USP34):c.6515T>C (p.Ile2172Thr)	USP34 (I2172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187462	NM_014709.4(USP34):c.6434G>C (p.Ser2145Thr)	USP34 (S2145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341611	NM_014709.4(USP34):c.6335G>A (p.Arg2112His)	USP34 (R2112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371048	NM_014709.4(USP34):c.6334C>T (p.Arg2112Cys)	USP34 (R2112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187461	NM_014709.4(USP34):c.6245G>A (p.Arg2082His)	USP34 (R2082H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598416	NM_014709.4(USP34):c.6244C>T (p.Arg2082Cys)	USP34 (R2082C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328687	NM_014709.4(USP34):c.5876C>T (p.Pro1959Leu)	USP34 (P1959L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758846	NM_014709.4(USP34):c.5826A>G (p.Lys1942=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3187459	NM_014709.4(USP34):c.5794A>G (p.Lys1932Glu)	USP34 (K1932E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495554	NM_014709.4(USP34):c.5624C>T (p.Ala1875Val)	USP34 (A1875V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297778	NM_014709.4(USP34):c.5603C>T (p.Ala1868Val)	USP34 (A1868V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650974	NM_014709.4(USP34):c.5592C>G (p.Asn1864Lys)	USP34 (N1864K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591970	NM_014709.4(USP34):c.5585T>C (p.Ile1862Thr)	USP34 (I1862T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342566	NM_014709.4(USP34):c.5542T>G (p.Leu1848Val)	USP34 (L1848V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369132	NM_014709.4(USP34):c.5530G>A (p.Ala1844Thr)	USP34 (A1844T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650975	NM_014709.4(USP34):c.5525C>G (p.Ala1842Gly)	USP34 (A1842G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650976	NM_014709.4(USP34):c.5489G>T (p.Arg1830Leu)	USP34 (R1830L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650977	NM_014709.4(USP34):c.5460C>T (p.Leu1820=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543950	NM_014709.4(USP34):c.5405C>A (p.Pro1802Gln)	LOC126806224, USP34 (P1802Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251468	NM_014709.4(USP34):c.5350G>A (p.Asp1784Asn)	LOC126806224, USP34 (D1784N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551771	NM_014709.4(USP34):c.5327A>C (p.Asp1776Ala)	LOC126806224, USP34 (D1776A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3