PTPN4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 148770	GRCh38/hg38 2q14.2(chr2:119745184-120469045)x1	EPB41L5, INHBB +22 more	Copy number loss	See cases	GUncertain significance
Select item 3149230	NM_002830.4(PTPN4):c.43G>A (p.Val15Ile)	PTPN4 (V15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236127	NM_002830.4(PTPN4):c.95A>C (p.Asn32Thr)	PTPN4 (N32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205365	NM_002830.4(PTPN4):c.115A>G (p.Thr39Ala)	PTPN4 (T39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307186	NM_002830.4(PTPN4):c.137A>G (p.Asn46Ser)	PTPN4 (N46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202475	NM_002830.4(PTPN4):c.138+2T>C	PTPN4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2321409	NM_002830.4(PTPN4):c.141A>T (p.Lys47Asn)	PTPN4 (K47N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254664	NM_002830.4(PTPN4):c.149del (p.Gln50fs)	PTPN4 (Q50fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3149225	NM_002830.4(PTPN4):c.172G>A (p.Val58Ile)	PTPN4 (V58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986785	NM_002830.4(PTPN4):c.191T>G (p.Leu64Trp)	PTPN4 (L64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346479	NM_002830.4(PTPN4):c.202G>A (p.Asp68Asn)	PTPN4 (D68N)	Single nucleotide variant (missense variant)	PTPN4-related disorder	GUncertain significance
Select item 2817448	NM_002830.4(PTPN4):c.246+1G>T	PTPN4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3233620	NM_002830.4(PTPN4):c.252G>T (p.Trp84Cys)	PTPN4 (W84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149229	NM_002830.4(PTPN4):c.271A>G (p.Ile91Val)	PTPN4 (I91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299635	NM_002830.4(PTPN4):c.312C>A (p.Asn104Lys)	PTPN4 (N104K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984725	NM_002830.4(PTPN4):c.393_396del (p.Gln132fs)	PTPN4 (Q132fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2630337	NM_002830.4(PTPN4):c.399C>A (p.Asp133Glu)	PTPN4 (D133E)	Single nucleotide variant (missense variant)	PTPN4-related disorder	GUncertain significance
Select item 3043761	NM_002830.4(PTPN4):c.472C>A (p.Leu158Ile)	PTPN4 (L158I)	Single nucleotide variant (missense variant)	PTPN4-related disorder	GLikely benign
Select item 992282	NM_002830.4(PTPN4):c.588-2A>G	PTPN4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3149231	NM_002830.4(PTPN4):c.595T>C (p.Ser199Pro)	PTPN4 (S199P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149232	NM_002830.4(PTPN4):c.635G>A (p.Arg212His)	PTPN4 (R212H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313389	NM_002830.4(PTPN4):c.659A>C (p.Glu220Ala)	PTPN4 (E220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344123	NM_002830.4(PTPN4):c.679C>T (p.Gln227Ter)	PTPN4 (Q227*)	Single nucleotide variant (nonsense)	PTPN4-related disorder	GUncertain significance
Select item 2651308	NM_002830.4(PTPN4):c.710T>C (p.Met237Thr)	PTPN4 (M237T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 984726	NM_002830.4(PTPN4):c.715G>A (p.Gly239Arg)	PTPN4 (G239R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068597	NM_002830.4(PTPN4):c.722T>C (p.Ile241Thr)	PTPN4 (I241T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2210441	NM_002830.4(PTPN4):c.745C>T (p.Arg249Ter)	PTPN4 (R249*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2250716	NM_002830.4(PTPN4):c.748A>C (p.Met250Leu)	PTPN4 (M250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613101	NM_002830.4(PTPN4):c.752A>G (p.Asn251Ser)	PTPN4 (N251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036069	NM_002830.4(PTPN4):c.784T>G (p.Ser262Ala)	PTPN4 (S262A)	Single nucleotide variant (missense variant)	PTPN4-related disorder	GLikely benign
Select item 3149233	NM_002830.4(PTPN4):c.860A>G (p.Asn287Ser)	PTPN4 (N287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556405	NM_002830.4(PTPN4):c.863T>C (p.Met288Thr)	PTPN4 (M288T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651309	NM_002830.4(PTPN4):c.879A>G (p.Ala293=)	PTPN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360584	NM_002830.4(PTPN4):c.926G>A (p.Arg309His)	PTPN4 (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3036828	NM_002830.4(PTPN4):c.1020A>G (p.Gln340=)	PTPN4	Single nucleotide variant (synonymous variant)	PTPN4-related disorder	GLikely benign
Select item 2477462	NM_002830.4(PTPN4):c.1060G>A (p.Val354Ile)	PTPN4 (V354I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369972	NM_002830.4(PTPN4):c.1142A>G (p.Asp381Gly)	PTPN4 (D381G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149221	NM_002830.4(PTPN4):c.1143C>G (p.Asp381Glu)	PTPN4 (D381E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605222	NM_002830.4(PTPN4):c.1172G>A (p.Arg391Gln)	PTPN4 (R391Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149222	NM_002830.4(PTPN4):c.1183G>C (p.Gly395Arg)	PTPN4 (G395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311462	NM_002830.4(PTPN4):c.1207A>G (p.Thr403Ala)	PTPN4 (T403A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1442580	NM_002830.4(PTPN4):c.1253A>G (p.His418Arg)	PTPN4 (H418R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400147	NM_002830.4(PTPN4):c.1327G>A (p.Ala443Thr)	PTPN4 (A443T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3235841	NM_002830.4(PTPN4):c.1347_1355+6del	PTPN4	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2413540	NM_002830.4(PTPN4):c.1355+1G>A	PTPN4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3311458	NM_002830.4(PTPN4):c.1367C>T (p.Thr456Ile)	PTPN4 (T456I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525335	NM_002830.4(PTPN4):c.1472T>A (p.Ile491Asn)	PTPN4 (I491N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149224	NM_002830.4(PTPN4):c.1478A>G (p.Glu493Gly)	PTPN4 (E493G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541495	NM_002830.4(PTPN4):c.1496C>T (p.Ser499Phe)	PTPN4 (S499F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555282	NM_002830.4(PTPN4):c.1513A>G (p.Thr505Ala)	PTPN4 (T505A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233959	NM_002830.4(PTPN4):c.1535A>T (p.His512Leu)	PTPN4 (H512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509612	NM_002830.4(PTPN4):c.1539T>G (p.Asp513Glu)	PTPN4 (D513E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1292039	NM_002830.4(PTPN4):c.1656+16G>T	PTPN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637193	NM_002830.4(PTPN4):c.1658C>A (p.Ala553Asp)	PTPN4 (A553D)	Single nucleotide variant (missense variant)	PTPN4-related disorder	GUncertain significance
Select item 2511538	NM_002830.4(PTPN4):c.1694A>G (p.Gln565Arg)	PTPN4 (Q565R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 998079	NM_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr)	PTPN4 (D580Y)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 3059519	NM_002830.4(PTPN4):c.1814-3dup	PTPN4	Duplication (intron variant)	PTPN4-related disorder	GBenign
Select item 3043064	NM_002830.4(PTPN4):c.1814-4_1814-3dup	PTPN4	Duplication (intron variant)	PTPN4-related disorder	GLikely benign
Select item 2494779	NM_002830.4(PTPN4):c.1822G>A (p.Asp608Asn)	PTPN4 (D608N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350686	NM_002830.4(PTPN4):c.1919G>A (p.Arg640Gln)	PTPN4 (R640Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257736	NM_002830.4(PTPN4):c.1927A>T (p.Met643Leu)	PTPN4 (M643L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388225	NM_002830.4(PTPN4):c.1939G>A (p.Ala647Thr)	PTPN4 (A647T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2854924	NM_002830.4(PTPN4):c.1983A>G (p.Gln661=)	PTPN4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3311461	NM_002830.4(PTPN4):c.2024A>G (p.Lys675Arg)	PTPN4 (K675R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229842	NM_002830.4(PTPN4):c.2066C>T (p.Ser689Leu)	PTPN4 (S689L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691887	NM_002830.4(PTPN4):c.2075A>T (p.Asp692Val)	PTPN4 (D692V)	Single nucleotide variant (missense variant)	PTPN4-associated disorder	GUncertain significance
Select item 2637046	NM_002830.4(PTPN4):c.2120C>G (p.Ala707Gly)	PTPN4 (A707G)	Single nucleotide variant (missense variant)	PTPN4-related disorder	GUncertain significance
Select item 3149226	NM_002830.4(PTPN4):c.2170A>G (p.Ile724Val)	PTPN4 (I724V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149227	NM_002830.4(PTPN4):c.2203A>G (p.Thr735Ala)	PTPN4 (T735A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337466	NM_002830.4(PTPN4):c.2244G>A (p.Met748Ile)	PTPN4 (M748I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149228	NM_002830.4(PTPN4):c.2272C>T (p.Arg758Cys)	PTPN4 (R758C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528294	NM_002830.4(PTPN4):c.2311A>G (p.Thr771Ala)	PTPN4 (T771A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699459	NM_002830.4(PTPN4):c.2338C>T (p.Gln780Ter)	PTPN4 (Q780*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 2378697	NM_002830.4(PTPN4):c.2387A>G (p.Lys796Arg)	PTPN4 (K796R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3311459	NM_002830.4(PTPN4):c.2421T>A (p.Ser807Arg)	PTPN4 (S807R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984744	NM_002830.4(PTPN4):c.2423G>A (p.Arg808His)	PTPN4 (R808H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495472	NM_002830.4(PTPN4):c.2431A>G (p.Thr811Ala)	PTPN4 (T811A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308817	NM_002830.4(PTPN4):c.2465G>A (p.Gly822Glu)	PTPN4 (G822E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978152	NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile)	PTPN4 (L831I)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 2273298	NM_002830.4(PTPN4):c.2507A>G (p.His836Arg)	PTPN4 (H836R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984797	NM_002830.4(PTPN4):c.2512C>T (p.Arg838Ter)	PTPN4 (R838*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2689844	NM_002830.4(PTPN4):c.2748del (p.Phe916fs)	PTPN4 (F916fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062636	GRCh37/hg19 2q14.2(chr2:120273496-120842237)x3	EPB41L5, PTPN4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1808512	GRCh37/hg19 2q14.2(chr2:120079538-120626557)x4	C2orf76, DBI +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808282	GRCh37/hg19 2q14.2(chr2:120729215-121383896)x3	EPB41L5, INHBB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526890	GRCh37/hg19 2q14.2-14.3(chr2:120715409-126676946)	CLASP1, CNTNAP5 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341988	GRCh37/hg19 2q14.2-14.3(chr2:120628484-127658188)x1	CNTNAP5, EPB41L5 +11 more	Copy number loss	not provided	GPathogenic
Select item 1341178	GRCh37/hg19 2q14.2(chr2:119967365-121555029)x3	C2orf76, DBI +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814301	GRCh37/hg19 2q14.2(chr2:120613138-121287716)x1	INHBB, TMEM185B +3 more	Copy number loss	not provided	GUncertain significance
Select item 814298	GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1	TMEM177, TFCP2L1 +18 more	Copy number loss	not provided	GPathogenic

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