ClinVar for Gene (Select 11099) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311441	NM_007039.4(PTPN21):c.2006T>C (p.Val669Ala)	PTPN21 (V669A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311440	NM_007039.4(PTPN21):c.1792C>G (p.Arg598Gly)	PTPN21 (R598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311439	NM_007039.4(PTPN21):c.3367A>C (p.Ile1123Leu)	PTPN21, SPATA7 (I1123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311438	NM_007039.4(PTPN21):c.1717A>G (p.Arg573Gly)	PTPN21 (R573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311437	NM_007039.4(PTPN21):c.3272C>T (p.Thr1091Ile)	PTPN21, SPATA7 (T1091I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311436	NM_007039.4(PTPN21):c.1898A>C (p.His633Pro)	PTPN21 (H633P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311434	NM_007039.4(PTPN21):c.2481G>C (p.Lys827Asn)	PTPN21 (K827N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311433	NM_007039.4(PTPN21):c.233T>C (p.Val78Ala)	PTPN21 (V78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311432	NM_007039.4(PTPN21):c.481C>G (p.Gln161Glu)	PTPN21 (Q161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311431	NM_007039.4(PTPN21):c.1523C>T (p.Ala508Val)	PTPN21 (A508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311430	NM_007039.4(PTPN21):c.2177G>C (p.Arg726Pro)	PTPN21 (R726P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149174	NM_007039.4(PTPN21):c.709T>G (p.Cys237Gly)	PTPN21 (C237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149173	NM_007039.4(PTPN21):c.706G>A (p.Ala236Thr)	PTPN21 (A236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149172	NM_007039.4(PTPN21):c.622A>C (p.Met208Leu)	PTPN21 (M208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149171	NM_007039.4(PTPN21):c.340G>A (p.Glu114Lys)	PTPN21 (E114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149170	NM_007039.4(PTPN21):c.3302A>G (p.Asn1101Ser)	PTPN21, SPATA7 (N1101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149169	NM_007039.4(PTPN21):c.3004G>A (p.Gly1002Ser)	PTPN21, SPATA7 (G1002S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149168	NM_007039.4(PTPN21):c.2736G>C (p.Glu912Asp)	PTPN21 (E912D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149167	NM_007039.4(PTPN21):c.2641G>A (p.Asp881Asn)	PTPN21 (D881N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149166	NM_007039.4(PTPN21):c.2426C>G (p.Ala809Gly)	PTPN21 (A809G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149165	NM_007039.4(PTPN21):c.2329G>A (p.Val777Ile)	PTPN21 (V777I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149164	NM_007039.4(PTPN21):c.2215C>G (p.Leu739Val)	PTPN21 (L739V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149163	NM_007039.4(PTPN21):c.2158G>A (p.Glu720Lys)	PTPN21 (E720K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149162	NM_007039.4(PTPN21):c.2145G>C (p.Glu715Asp)	PTPN21 (E715D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149161	NM_007039.4(PTPN21):c.2116A>C (p.Met706Leu)	PTPN21 (M706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149160	NM_007039.4(PTPN21):c.1997C>G (p.Pro666Arg)	PTPN21 (P666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149159	NM_007039.4(PTPN21):c.1709C>T (p.Pro570Leu)	PTPN21 (P570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149158	NM_007039.4(PTPN21):c.166C>G (p.Leu56Val)	PTPN21 (L56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149157	NM_007039.4(PTPN21):c.1657C>T (p.Pro553Ser)	PTPN21 (P553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149156	NM_007039.4(PTPN21):c.1514C>T (p.Pro505Leu)	PTPN21 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149155	NM_007039.4(PTPN21):c.1372C>T (p.Leu458Phe)	PTPN21 (L458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149154	NM_007039.4(PTPN21):c.1174G>A (p.Gly392Ser)	PTPN21 (G392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149153	NM_007039.4(PTPN21):c.1163G>A (p.Arg388Gln)	PTPN21 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149152	NM_007039.4(PTPN21):c.103G>A (p.Val35Met)	PTPN21 (V35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644435	NM_007039.4(PTPN21):c.3051G>A (p.Arg1017=)	PTPN21, SPATA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613958	NM_007039.4(PTPN21):c.382A>G (p.Ile128Val)	PTPN21 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608295	NM_007039.4(PTPN21):c.2777G>A (p.Arg926Gln)	PTPN21 (R926Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600482	NM_007039.4(PTPN21):c.3403G>C (p.Asp1135His)	PTPN21, SPATA7 (D1135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600476	NM_007039.4(PTPN21):c.2719C>G (p.Arg907Gly)	PTPN21 (R907G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592123	NM_007039.4(PTPN21):c.1327C>T (p.Pro443Ser)	PTPN21 (P443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590513	NM_007039.4(PTPN21):c.1847C>G (p.Ser616Trp)	PTPN21 (S616W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2554351	NM_007039.4(PTPN21):c.274G>A (p.Ala92Thr)	PTPN21 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548141	NM_007039.4(PTPN21):c.1385T>C (p.Leu462Pro)	PTPN21 (L462P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547883	NM_007039.4(PTPN21):c.2024C>G (p.Pro675Arg)	PTPN21 (P675R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542104	NM_007039.4(PTPN21):c.3487G>A (p.Val1163Ile)	PTPN21, SPATA7 (V1163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541846	NM_007039.4(PTPN21):c.1678A>T (p.Thr560Ser)	PTPN21 (T560S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534297	NM_007039.4(PTPN21):c.709T>A (p.Cys237Ser)	PTPN21 (C237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528277	NM_007039.4(PTPN21):c.449C>T (p.Ala150Val)	PTPN21 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511466	NM_007039.4(PTPN21):c.2233G>C (p.Gly745Arg)	PTPN21 (G745R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493275	NM_007039.4(PTPN21):c.1492G>A (p.Glu498Lys)	PTPN21 (E498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493029	NM_007039.4(PTPN21):c.143G>A (p.Ser48Asn)	PTPN21 (S48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460600	NM_007039.4(PTPN21):c.1532C>G (p.Pro511Arg)	PTPN21 (P511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459854	NM_007039.4(PTPN21):c.1547A>G (p.Tyr516Cys)	PTPN21 (Y516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459240	NM_007039.4(PTPN21):c.2210C>A (p.Pro737His)	PTPN21 (P737H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 2408799	NM_007039.4(PTPN21):c.2269A>T (p.Ile757Phe)	PTPN21 (I757F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407522	NM_007039.4(PTPN21):c.896C>T (p.Ala299Val)	PTPN21 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396045	NM_007039.4(PTPN21):c.262C>A (p.Leu88Met)	PTPN21 (L88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395770	NM_007039.4(PTPN21):c.2741C>T (p.Ser914Leu)	PTPN21 (S914L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388614	NM_007039.4(PTPN21):c.2591G>A (p.Arg864Gln)	PTPN21 (R864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387542	NM_007039.4(PTPN21):c.2086G>C (p.Gly696Arg)	PTPN21 (G696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387320	NM_007039.4(PTPN21):c.1288G>C (p.Asp430His)	PTPN21 (D430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379650	NM_007039.4(PTPN21):c.3299C>T (p.Pro1100Leu)	PTPN21, SPATA7 (P1100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379323	NM_007039.4(PTPN21):c.2611G>A (p.Gly871Arg)	PTPN21 (G871R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369772	NM_007039.4(PTPN21):c.430G>A (p.Ala144Thr)	PTPN21 (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361051	NM_007039.4(PTPN21):c.1387G>A (p.Val463Met)	PTPN21 (V463M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355942	NM_007039.4(PTPN21):c.2827A>G (p.Thr943Ala)	PTPN21 (T943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355517	NM_007039.4(PTPN21):c.2026A>G (p.Ser676Gly)	PTPN21 (S676G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339504	NM_007039.4(PTPN21):c.1450A>T (p.Ser484Cys)	PTPN21 (S484C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330176	NM_007039.4(PTPN21):c.1892A>G (p.Gln631Arg)	PTPN21 (Q631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311165	NM_007039.4(PTPN21):c.3430A>G (p.Arg1144Gly)	PTPN21, SPATA7 (R1144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310650	NM_007039.4(PTPN21):c.1993G>A (p.Ala665Thr)	PTPN21 (A665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298466	NM_007039.4(PTPN21):c.2386A>C (p.Met796Leu)	PTPN21 (M796L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298061	NM_007039.4(PTPN21):c.2420A>G (p.Tyr807Cys)	PTPN21 (Y807C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271374	NM_007039.4(PTPN21):c.1883G>A (p.Arg628His)	PTPN21 (R628H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270676	NM_007039.4(PTPN21):c.1678A>C (p.Thr560Pro)	PTPN21 (T560P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269763	NM_007039.4(PTPN21):c.2163G>C (p.Glu721Asp)	PTPN21 (E721D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268346	NM_007039.4(PTPN21):c.1728C>A (p.Asn576Lys)	PTPN21 (N576K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267818	NM_007039.4(PTPN21):c.1640T>C (p.Leu547Pro)	PTPN21 (L547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267601	NM_007039.4(PTPN21):c.3268C>T (p.His1090Tyr)	PTPN21, SPATA7 (H1090Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263607	NM_007039.4(PTPN21):c.1432G>C (p.Gly478Arg)	PTPN21 (G478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263460	NM_007039.4(PTPN21):c.1828A>G (p.Ser610Gly)	PTPN21 (S610G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259486	NM_007039.4(PTPN21):c.2165A>T (p.Glu722Val)	PTPN21 (E722V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259485	NM_007039.4(PTPN21):c.2163G>T (p.Glu721Asp)	PTPN21 (E721D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251292	NM_007039.4(PTPN21):c.423T>G (p.Ile141Met)	PTPN21 (I141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212546	NM_007039.4(PTPN21):c.2678A>G (p.Gln893Arg)	PTPN21 (Q893R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1801807	NM_007039.4(PTPN21):c.339G>C (p.Gln113His)	PTPN21 (Q113H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527834	GRCh37/hg19 14q31.3(chr14:88910135-89320435)	EML5, PTPN21 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1527830	GRCh37/hg19 14q31.2-31.3(chr14:84325247-89218538)	EML5, FLRT2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1340413	GRCh37/hg19 14q31.3(chr14:88988441-89305352)x1	EML5, PTPN21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 768672	NM_007039.4(PTPN21):c.1800C>G (p.His600Gln)	PTPN21 (H600Q)	Single nucleotide variant (missense variant)	not provided	GBenign

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