PTPN3[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 3311457	NM_002829.4(PTPN3):c.2732A>G (p.Asp911Gly)	PTPN3 (D624G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532013	NM_002829.4(PTPN3):c.2681T>C (p.Val894Ala)	PTPN3 (V607A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149213	NM_002829.4(PTPN3):c.2590A>G (p.Arg864Gly)	PTPN3 (R532G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149212	NM_002829.4(PTPN3):c.2548G>A (p.Gly850Ser)	PTPN3 (G719S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149211	NM_002829.4(PTPN3):c.2543G>A (p.Arg848Gln)	PTPN3 (R672Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149210	NM_002829.4(PTPN3):c.2536A>G (p.Ile846Val)	PTPN3 (I670V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659408	NM_002829.4(PTPN3):c.2511C>T (p.Pro837=)	PTPN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2534814	NM_002829.4(PTPN3):c.2477A>G (p.Asn826Ser)	PTPN3 (N539S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149209	NM_002829.4(PTPN3):c.2476A>T (p.Asn826Tyr)	PTPN3 (N826Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323502	NM_002829.4(PTPN3):c.2446G>A (p.Asp816Asn)	PTPN3 (D484N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609887	NM_002829.4(PTPN3):c.2436C>G (p.His812Gln)	PTPN3 (H525Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149207	NM_002829.4(PTPN3):c.2419G>A (p.Val807Ile)	PTPN3 (V475I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149206	NM_002829.4(PTPN3):c.2305G>A (p.Gly769Ser)	PTPN3 (G482S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2522147	NM_002829.4(PTPN3):c.2190G>T (p.Gln730His)	PTPN3 (Q599H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354516	NM_002829.4(PTPN3):c.2168A>G (p.His723Arg)	PTPN3 (H391R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 707948	NM_002829.4(PTPN3):c.2145C>T (p.Ile715=)	PTPN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3149205	NM_002829.4(PTPN3):c.1976G>A (p.Gly659Asp)	PTPN3 (G327D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311456	NM_002829.4(PTPN3):c.1934C>T (p.Thr645Met)	PTPN3 (T358M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520636	NM_002829.4(PTPN3):c.1930G>A (p.Gly644Arg)	PTPN3 (G312R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1678189	NM_002829.4(PTPN3):c.1835A>C (p.Asn612Thr)	PTPN3 (N280T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3311455	NM_002829.4(PTPN3):c.1815C>A (p.Phe605Leu)	PTPN3 (F474L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352492	NM_002829.4(PTPN3):c.1757A>G (p.His586Arg)	PTPN3 (H254R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251548	NM_002829.4(PTPN3):c.1735A>G (p.Ile579Val)	PTPN3 (I292V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149202	NM_002829.4(PTPN3):c.1724T>A (p.Val575Glu)	PTPN3 (V243E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149201	NM_002829.4(PTPN3):c.1594A>C (p.Lys532Gln)	PTPN3 (K401Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250332	NM_002829.4(PTPN3):c.1435G>T (p.Asp479Tyr)	PTPN3 (D192Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149200	NM_002829.4(PTPN3):c.1429C>T (p.Leu477Phe)	PTPN3 (L145F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2454290	NM_002829.4(PTPN3):c.1417G>A (p.Val473Ile)	PTPN3 (V297I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149199	NM_002829.4(PTPN3):c.1367G>T (p.Ser456Ile)	PTPN3 (S124I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373507	NM_002829.4(PTPN3):c.1306C>T (p.His436Tyr)	PTPN3 (H260Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149198	NM_002829.4(PTPN3):c.1247A>T (p.Tyr416Phe)	PTPN3 (Y240F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149197	NM_002829.4(PTPN3):c.1244C>T (p.Thr415Met)	PTPN3 (T128M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368465	NM_002829.4(PTPN3):c.1199C>A (p.Ala400Glu)	PTPN3 (A224E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597742	NM_002829.4(PTPN3):c.1175G>A (p.Arg392His)	PTPN3 (R105H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262759	NM_002829.4(PTPN3):c.1175G>T (p.Arg392Leu)	PTPN3 (R60L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217692	NM_002829.4(PTPN3):c.1162A>G (p.Ile388Val)	PTPN3 (I257V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311454	NM_002829.4(PTPN3):c.1133A>G (p.Asn378Ser)	PTPN3 (N91S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149220	NM_002829.4(PTPN3):c.979A>G (p.Met327Val)	PTPN3 (M196V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521550	NM_002829.4(PTPN3):c.958G>A (p.Val320Ile)	PTPN3 (V320I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548367	NM_002829.4(PTPN3):c.944C>T (p.Pro315Leu)	PTPN3 (P184L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281741	NM_002829.4(PTPN3):c.928G>C (p.Ala310Pro)	PTPN3 (A310P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149219	NM_002829.4(PTPN3):c.902G>C (p.Cys301Ser)	PTPN3 (C170S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392270	NM_002829.4(PTPN3):c.902G>A (p.Cys301Tyr)	PTPN3 (C170Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311453	NM_002829.4(PTPN3):c.834A>T (p.Glu278Asp)	PTPN3 (E147D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149217	NM_002829.4(PTPN3):c.772A>G (p.Ile258Val)	PTPN3 (I127V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236385	NM_002829.4(PTPN3):c.749C>T (p.Thr250Ile)	PTPN3 (T250I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308188	NM_002829.4(PTPN3):c.739T>C (p.Tyr247His)	PTPN3 (Y247H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149216	NM_002829.4(PTPN3):c.733C>G (p.Arg245Gly)	PTPN3 (R245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618574	NM_002829.4(PTPN3):c.676G>A (p.Asp226Asn)	PTPN3 (D226N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149215	NM_002829.4(PTPN3):c.653G>C (p.Gly218Ala)	PTPN3 (G87A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327474	NM_002829.4(PTPN3):c.634C>T (p.Arg212Trp)	PTPN3 (R212W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161535	NM_002829.4(PTPN3):c.632C>T (p.Ala211Val)	PTPN3 (A211V +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2323897	NM_002829.4(PTPN3):c.604G>A (p.Glu202Lys)	PTPN3 (E202K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659409	NM_002829.4(PTPN3):c.534C>T (p.Pro178=)	PTPN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406465	NM_002829.4(PTPN3):c.529A>G (p.Ile177Val)	PTPN3 (I177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331437	NM_002829.4(PTPN3):c.518A>G (p.Asp173Gly)	PTPN3 (D173G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589939	NM_002829.4(PTPN3):c.517G>A (p.Asp173Asn)	PTPN3 (D173N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149214	NM_002829.4(PTPN3):c.455A>G (p.Tyr152Cys)	PTPN3 (Y152C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149208	NM_002829.4(PTPN3):c.242C>T (p.Ser81Phe)	PTPN3 (S81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149204	NM_002829.4(PTPN3):c.191T>C (p.Val64Ala)	PTPN3 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367330	NM_002829.4(PTPN3):c.115G>A (p.Val39Met)	PTPN3 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149218	NM_002829.4(PTPN3):c.86T>A (p.Val29Asp)	PTPN3 (V29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493104	NM_002829.4(PTPN3):c.47G>A (p.Arg16His)	PTPN3 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463276	NM_002829.4(PTPN3):c.17G>A (p.Arg6His)	PTPN3 (R6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 394021	GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3	ELP1, EPB41L4B +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 99