ClinVar for Gene (Select 29761) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331413	NM_001283041.3(USP25):c.47A>G (p.His16Arg)	USP25 (H16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331412	NM_001283041.3(USP25):c.819G>T (p.Trp273Cys)	USP25 (W52C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331411	NM_001283041.3(USP25):c.2753A>G (p.Gln918Arg)	USP25 (Q441R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331409	NM_001283041.3(USP25):c.1142A>G (p.Gln381Arg)	USP25 (Q160R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331408	NM_001283041.3(USP25):c.3040G>A (p.Glu1014Lys)	USP25 (E1014K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331407	NM_001283041.3(USP25):c.1786G>A (p.Val596Ile)	USP25 (V192I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331406	NM_001283041.3(USP25):c.1231A>G (p.Ile411Val)	USP25 (I411V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331405	NM_001283041.3(USP25):c.983A>G (p.Asn328Ser)	USP25 (N328S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3187316	NM_001283041.3(USP25):c.867G>C (p.Glu289Asp)	USP25 (E68D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187315	NM_001283041.3(USP25):c.649C>T (p.Arg217Trp)	USP25 (R217W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187314	NM_001283041.3(USP25):c.3227C>G (p.Thr1076Arg)	USP25 (T1038R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187313	NM_001283041.3(USP25):c.2986C>T (p.His996Tyr)	USP25 (H522Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187311	NM_001283041.3(USP25):c.2729G>A (p.Cys910Tyr)	USP25 (C433Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187310	NM_001283041.3(USP25):c.2318C>T (p.Pro773Leu)	USP25 (P773L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187309	NM_001283041.3(USP25):c.2114C>T (p.Ala705Val)	USP25 (A301V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187308	NM_001283041.3(USP25):c.2066T>C (p.Val689Ala)	USP25 (V689A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187307	NM_001283041.3(USP25):c.1991A>G (p.Gln664Arg)	USP25 (Q443R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187306	NM_001283041.3(USP25):c.1826G>T (p.Trp609Leu)	USP25 (W388L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187305	NM_001283041.3(USP25):c.1559A>G (p.Lys520Arg)	USP25 (K299R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187303	NM_001283041.3(USP25):c.1397C>T (p.Thr466Ile)	USP25 (T466I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187302	NM_001283041.3(USP25):c.1300G>C (p.Glu434Gln)	USP25 (E30Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062432	GRCh37/hg19 21q11.2-21.1(chr21:16345630-17124279)x3	NRIP1, USP25	Copy number gain	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 2685655	GRCh37/hg19 21q11.2-21.1(chr21:15006458-19950207)x1	BTG3, C21orf91 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2607810	NM_001283041.3(USP25):c.434A>G (p.Lys145Arg)	USP25 (K145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604632	NM_001283041.3(USP25):c.1600C>T (p.His534Tyr)	USP25 (H534Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599680	NM_001283041.3(USP25):c.1139A>G (p.Asn380Ser)	USP25 (N159S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532187	NM_001283041.3(USP25):c.1821C>G (p.His607Gln)	USP25 (H203Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481012	NM_001283041.3(USP25):c.1672G>A (p.Glu558Lys)	USP25 (E337K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478807	NM_001283041.3(USP25):c.1400C>G (p.Ser467Cys)	USP25 (S246C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471116	NM_001283041.3(USP25):c.2326G>C (p.Val776Leu)	USP25 (V369L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459934	NM_001283041.3(USP25):c.1574C>G (p.Ser525Cys)	USP25 (S304C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406976	NM_001283041.3(USP25):c.3335G>A (p.Arg1112Gln)	USP25 (R638Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406952	NM_001283041.3(USP25):c.2908C>G (p.Leu970Val)	USP25 (L493V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406169	NM_001283041.3(USP25):c.1675A>C (p.Ile559Leu)	USP25 (I559L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396507	NM_001283041.3(USP25):c.1280C>T (p.Thr427Met)	USP25 (T206M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385877	NM_001283041.3(USP25):c.3208C>T (p.His1070Tyr)	USP25 (H1032Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371079	NM_001283041.3(USP25):c.32G>A (p.Ser11Asn)	LOC130066460, USP25 (S11N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363765	NM_001283041.3(USP25):c.650G>A (p.Arg217Gln)	USP25 (R217Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362965	NM_001283041.3(USP25):c.2212C>A (p.Pro738Thr)	USP25 (P331T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351378	NM_001283041.3(USP25):c.1541C>T (p.Ser514Leu)	USP25 (S293L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341820	NM_001283041.3(USP25):c.1215G>T (p.Met405Ile)	USP25 (M184I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330712	NM_001283041.3(USP25):c.3254G>A (p.Cys1085Tyr)	USP25 (C1015Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328396	NM_001283041.3(USP25):c.1661G>T (p.Arg554Leu)	USP25 (R150L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291019	NM_001283041.3(USP25):c.867G>T (p.Glu289Asp)	USP25 (E68D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289332	NM_001283041.3(USP25):c.1617C>A (p.His539Gln)	USP25 (H135Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278907	NM_001283041.3(USP25):c.2692C>G (p.Gln898Glu)	USP25 (Q828E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277872	NM_001283041.3(USP25):c.471C>G (p.Asn157Lys)	USP25 (N157K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270633	NM_001283041.3(USP25):c.2755G>A (p.Ala919Thr)	USP25 (A445T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254800	NM_001283041.3(USP25):c.2183C>T (p.Ser728Phe)	USP25 (S728F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253266	NM_001283041.3(USP25):c.53A>G (p.Gln18Arg)	USP25 (Q18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240478	NM_001283041.3(USP25):c.698T>C (p.Val233Ala)	USP25 (V12A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228519	NM_001283041.3(USP25):c.2934A>T (p.Lys978Asn)	USP25 (K687N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227111	NM_001283041.3(USP25):c.2153C>T (p.Ala718Val)	USP25 (A314V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225717	NM_001283041.3(USP25):c.1327C>A (p.Pro443Thr)	USP25 (P39T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221585	NM_001283041.3(USP25):c.667C>T (p.Arg223Cys)	USP25 (R2C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218034	NM_001283041.3(USP25):c.56C>G (p.Thr19Arg)	USP25 (T19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215262	NM_001283041.3(USP25):c.3308C>T (p.Thr1103Met)	USP25 (T1065M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808519	GRCh37/hg19 21q11.2-21.1(chr21:15023402-17685941)x4	HSPA13, LIPI +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808396	GRCh37/hg19 21q11.2-21.1(chr21:15006458-21778529)x1	MIRLET7C, NRIP1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	ADAMTS1, MIR125B2 +23 more	Copy number gain	See cases	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	MRPL39, NCAM2 +23 more	Copy number gain	not specified	GPathogenic
Select item 1526702	GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623)	APP, ATP5PF +20 more	Copy number gain	not specified	GPathogenic
Select item 1526701	GRCh37/hg19 21q11.2-21.2(chr21:15006457-26760450)	BTG3, C21orf91 +14 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 979748	GRCh37/hg19 21q21.1(chr21:16868628-17106191)x3	USP25	Copy number gain	not provided	GLikely benign
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	not provided	GPathogenic
Select item 816142	GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 635905	Single allele	ADAMTS1, ADAMTS5 +23 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625662	GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963)	HSPA13, SAMSN1 +17 more	Copy number gain	not provided	GPathogenic
Select item 564678	GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443575	GRCh37/hg19 21q21.1(chr21:17049083-22765034)x3	BTG3, C21orf91 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442418	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	See cases	GPathogenic
Select item 441969	GRCh37/hg19 21q11.2-21.1(chr21:15006861-23651121)x3	BTG3, C21orf91 +14 more	Copy number gain	See cases	GUncertain significance
Select item 395680	GRCh37/hg19 21q11.2-21.1(chr21:15442582-20723130)	CXADR, HSPA13 +12 more	Copy number gain	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 153628	GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1	ASMER1, BTG3 +107 more	Copy number loss	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2