ClinVar for Gene (Select 5822) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311769	NM_005049.3(PWP2):c.461A>C (p.Asp154Ala)	PWP2 (D154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311768	NM_005049.3(PWP2):c.446G>A (p.Cys149Tyr)	PWP2 (C149Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311767	NM_005049.3(PWP2):c.1465C>G (p.Gln489Glu)	PWP2 (Q489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311766	NM_005049.3(PWP2):c.689C>T (p.Ala230Val)	PWP2 (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311765	NM_005049.3(PWP2):c.1225G>A (p.Val409Ile)	PWP2 (V409I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311764	NM_005049.3(PWP2):c.47G>A (p.Arg16Gln)	PWP2 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311763	NM_005049.3(PWP2):c.2248G>T (p.Val750Leu)	PWP2 (V750L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311762	NM_005049.3(PWP2):c.827G>A (p.Arg276Gln)	PWP2 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
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 3149932	NM_005049.3(PWP2):c.998T>C (p.Ile333Thr)	PWP2 (I333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149931	NM_005049.3(PWP2):c.848A>G (p.Asn283Ser)	PWP2 (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149930	NM_005049.3(PWP2):c.793G>A (p.Glu265Lys)	PWP2 (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149929	NM_005049.3(PWP2):c.788C>T (p.Pro263Leu)	PWP2 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149928	NM_005049.3(PWP2):c.770T>A (p.Ile257Asn)	PWP2 (I257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149927	NM_005049.3(PWP2):c.74A>G (p.Asp25Gly)	PWP2 (D25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149926	NM_005049.3(PWP2):c.710T>C (p.Leu237Ser)	PWP2 (L237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149925	NM_005049.3(PWP2):c.371C>T (p.Ala124Val)	PWP2 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149924	NM_005049.3(PWP2):c.30G>C (p.Leu10Phe)	PWP2 (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149923	NM_005049.3(PWP2):c.251T>C (p.Leu84Pro)	LOC121853021, PWP2 (L84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149922	NM_005049.3(PWP2):c.2242G>C (p.Gly748Arg)	PWP2 (G748R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149920	NM_005049.3(PWP2):c.2165C>T (p.Thr722Met)	PWP2 (T722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149919	NM_005049.3(PWP2):c.2144G>A (p.Arg715His)	PWP2 (R715H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149918	NM_005049.3(PWP2):c.2065G>A (p.Val689Ile)	PWP2 (V689I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149917	NM_005049.3(PWP2):c.2017G>C (p.Asp673His)	PWP2 (D673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149916	NM_005049.3(PWP2):c.194C>T (p.Pro65Leu)	PWP2 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149915	NM_005049.3(PWP2):c.1805C>T (p.Ala602Val)	PWP2 (A602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149914	NM_005049.3(PWP2):c.1568A>G (p.Lys523Arg)	PWP2 (K523R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149913	NM_005049.3(PWP2):c.1550C>T (p.Ala517Val)	PWP2 (A517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149912	NM_005049.3(PWP2):c.1462A>C (p.Met488Leu)	PWP2 (M488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149910	NM_005049.3(PWP2):c.1370G>A (p.Arg457His)	PWP2 (R457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149909	NM_005049.3(PWP2):c.1261G>T (p.Val421Leu)	PWP2 (V421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149908	NM_005049.3(PWP2):c.1238A>G (p.Glu413Gly)	PWP2 (E413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149907	NM_005049.3(PWP2):c.1235C>T (p.Thr412Met)	PWP2 (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149906	NM_005049.3(PWP2):c.1162A>C (p.Ile388Leu)	PWP2 (I388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149905	NM_005049.3(PWP2):c.115G>C (p.Val39Leu)	PWP2 (V39L)	Single nucleotide variant (missense variant)	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 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684920	GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3	AGPAT3, AIRE +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
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 2616828	NM_005049.3(PWP2):c.870C>A (p.Asn290Lys)	PWP2 (N290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600005	NM_005049.3(PWP2):c.754G>A (p.Asp252Asn)	PWP2 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594340	NM_005049.3(PWP2):c.373C>T (p.Pro125Ser)	PWP2 (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544165	NM_005049.3(PWP2):c.2482A>T (p.Met828Leu)	PWP2 (M828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513702	NM_005049.3(PWP2):c.1885G>A (p.Val629Met)	PWP2 (V629M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509063	NM_005049.3(PWP2):c.254T>C (p.Val85Ala)	LOC121853021, PWP2 (V85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480734	NM_005049.3(PWP2):c.640A>C (p.Met214Leu)	PWP2 (M214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454311	NM_005049.3(PWP2):c.2263C>T (p.Arg755Cys)	PWP2 (R755C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2412524	NM_005049.3(PWP2):c.2197C>T (p.Arg733Cys)	PWP2 (R733C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403866	NM_005049.3(PWP2):c.2606A>C (p.Asn869Thr)	PWP2 (N869T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403628	NM_005049.3(PWP2):c.2472C>A (p.His824Gln)	PWP2 (H824Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396595	NM_005049.3(PWP2):c.1793C>T (p.Thr598Ile)	PWP2 (T598I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395817	NM_005049.3(PWP2):c.218T>C (p.Val73Ala)	PWP2 (V73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377238	NM_005049.3(PWP2):c.1435G>A (p.Asp479Asn)	PWP2 (D479N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376501	NM_005049.3(PWP2):c.1313C>G (p.Thr438Ser)	PWP2 (T438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353598	NM_005049.3(PWP2):c.236C>T (p.Ala79Val)	LOC121853021, PWP2 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345365	NM_005049.3(PWP2):c.2611C>G (p.Gln871Glu)	PWP2 (Q871E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343311	NM_005049.3(PWP2):c.293C>T (p.Ser98Phe)	LOC121853021, PWP2 (S98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338487	NM_005049.3(PWP2):c.1915C>G (p.Leu639Val)	PWP2 (L639V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333875	NM_005049.3(PWP2):c.1900G>A (p.Val634Ile)	PWP2 (V634I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331739	NM_005049.3(PWP2):c.2240C>T (p.Pro747Leu)	PWP2 (P747L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328904	NM_005049.3(PWP2):c.2677G>A (p.Glu893Lys)	PWP2 (E893K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325807	NM_005049.3(PWP2):c.397G>C (p.Ala133Pro)	PWP2 (A133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322447	NM_005049.3(PWP2):c.2257G>A (p.Ala753Thr)	PWP2 (A753T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317062	NM_005049.3(PWP2):c.2126G>A (p.Arg709His)	PWP2 (R709H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303612	NM_005049.3(PWP2):c.50G>A (p.Arg17His)	PWP2 (R17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299505	NM_005049.3(PWP2):c.152C>T (p.Pro51Leu)	PWP2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282090	NM_005049.3(PWP2):c.2456A>G (p.Tyr819Cys)	PWP2 (Y819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280278	NM_005049.3(PWP2):c.164G>A (p.Arg55Gln)	PWP2 (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277096	NM_005049.3(PWP2):c.1756G>A (p.Asp586Asn)	PWP2 (D586N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275790	NM_005049.3(PWP2):c.1309G>A (p.Gly437Arg)	PWP2 (G437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268137	NM_005049.3(PWP2):c.352A>C (p.Ile118Leu)	PWP2 (I118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267258	NM_005049.3(PWP2):c.2538G>T (p.Gln846His)	PWP2 (Q846H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262955	NM_005049.3(PWP2):c.956A>C (p.Glu319Ala)	PWP2 (E319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253453	NM_005049.3(PWP2):c.1930G>A (p.Glu644Lys)	PWP2 (E644K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251453	NM_005049.3(PWP2):c.2329G>C (p.Glu777Gln)	PWP2 (E777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248474	NM_005049.3(PWP2):c.991C>A (p.Gln331Lys)	PWP2 (Q331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242098	NM_005049.3(PWP2):c.1417G>A (p.Val473Ile)	PWP2 (V473I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241777	NM_005049.3(PWP2):c.2236A>G (p.Thr746Ala)	PWP2 (T746A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229684	NM_005049.3(PWP2):c.565G>A (p.Asp189Asn)	PWP2 (D189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225740	NM_005049.3(PWP2):c.1103A>G (p.Lys368Arg)	PWP2 (K368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219011	NM_005049.3(PWP2):c.1903C>T (p.Arg635Cys)	PWP2 (R635C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214576	NM_005049.3(PWP2):c.2365G>A (p.Val789Met)	PWP2 (V789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809380	GRCh37/hg19 21q22.3(chr21:45460343-45817256)x3	AIRE, CFAP410 +7 more	Copy number gain	not provided	GUncertain significance
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 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526724	GRCh37/hg19 21q22.3(chr21:45265857-47057233)	ADARB1, AGPAT3 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526723	GRCh37/hg19 21q22.3(chr21:45071606-45703897)	AGPAT3, CSTB +9 more	Copy number gain	not specified	GUncertain significance

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