ClinVar for Gene (Select 5792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311551	NM_002840.5(PTPRF):c.112G>T (p.Val38Phe)	PTPRF (V38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311550	NM_002840.5(PTPRF):c.4385A>G (p.Gln1462Arg)	PTPRF (Q1158R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311549	NM_002840.5(PTPRF):c.1030T>C (p.Ser344Pro)	PTPRF (S350P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311548	NM_002840.5(PTPRF):c.2621A>T (p.Asp874Val)	PTPRF (D865V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311547	NM_002840.5(PTPRF):c.4384C>G (p.Gln1462Glu)	PTPRF (Q1158E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311546	NM_002840.5(PTPRF):c.4024G>A (p.Glu1342Lys)	PTPRF (E1058K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311545	NM_002840.5(PTPRF):c.686G>A (p.Arg229His)	PTPRF (R229H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311544	NM_002840.5(PTPRF):c.2473A>G (p.Thr825Ala)	PTPRF (T816A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311543	NM_002840.5(PTPRF):c.787G>A (p.Val263Met)	PTPRF (V263M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311542	NM_002840.5(PTPRF):c.4462T>A (p.Tyr1488Asn)	PTPRF (Y1479N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311540	NM_002840.5(PTPRF):c.2423G>A (p.Arg808His)	PTPRF (R697H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311539	NM_002840.5(PTPRF):c.3949C>T (p.Arg1317Trp)	PTPRF (R1308W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311538	NM_002840.5(PTPRF):c.2308G>A (p.Ala770Thr)	PTPRF (A678T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311537	NM_002840.5(PTPRF):c.3061G>A (p.Ala1021Thr)	PTPRF (A726T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311536	NM_002840.5(PTPRF):c.3574G>A (p.Asp1192Asn)	PTPRF (D907N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311535	NM_002840.5(PTPRF):c.1478C>T (p.Ala493Val)	PTPRF (A499V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311534	NM_002840.5(PTPRF):c.2101G>T (p.Val701Leu)	PTPRF (V701L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311533	NM_002840.5(PTPRF):c.4921C>T (p.Leu1641Phe)	PTPRF (L1363F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311532	NM_002840.5(PTPRF):c.29C>G (p.Thr10Arg)	PTPRF (T10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311530	NM_002840.5(PTPRF):c.536C>T (p.Thr179Met)	PTPRF (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257010	NM_002840.5(PTPRF):c.4204G>A (p.Gly1402Arg)	PTPRF (G1098R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3149383	NM_002840.5(PTPRF):c.976G>A (p.Val326Met)	PTPRF (V326M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149382	NM_002840.5(PTPRF):c.818C>G (p.Thr273Ser)	PTPRF (T283S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149381	NM_002840.5(PTPRF):c.808G>A (p.Glu270Lys)	PTPRF (E270K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149380	NM_002840.5(PTPRF):c.796A>G (p.Met266Val)	PTPRF (M266V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149379	NM_002840.5(PTPRF):c.785A>G (p.Tyr262Cys)	PTPRF (Y268C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149378	NM_002840.5(PTPRF):c.760G>A (p.Val254Met)	PTPRF (V260M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149377	NM_002840.5(PTPRF):c.563G>A (p.Arg188His)	PTPRF (R188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149376	NM_002840.5(PTPRF):c.5303C>T (p.Pro1768Leu)	PTPRF (P1490L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149374	NM_002840.5(PTPRF):c.4861T>C (p.Tyr1621His)	PTPRF (Y1612H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149373	NM_002840.5(PTPRF):c.4480G>A (p.Ala1494Thr)	PTPRF (A1190T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149372	NM_002840.5(PTPRF):c.4468G>T (p.Val1490Leu)	PTPRF (V1206L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149371	NM_002840.5(PTPRF):c.4052A>C (p.Lys1351Thr)	PTPRF (K1073T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149370	NM_002840.5(PTPRF):c.3886G>A (p.Asp1296Asn)	PTPRF (D1007N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149369	NM_002840.5(PTPRF):c.3746A>G (p.Gln1249Arg)	PTPRF (Q945R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149368	NM_002840.5(PTPRF):c.3634C>T (p.Arg1212Trp)	PTPRF (R923W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149367	NM_002840.5(PTPRF):c.3332T>C (p.Ile1111Thr)	PTPRF (I1111T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149366	NM_002840.5(PTPRF):c.318G>C (p.Glu106Asp)	PTPRF (E106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149365	NM_002840.5(PTPRF):c.3170G>A (p.Gly1057Glu)	PTPRF (G1048E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149363	NM_002840.5(PTPRF):c.2953G>C (p.Asp985His)	PTPRF (D976H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149362	NM_002840.5(PTPRF):c.2689C>G (p.Arg897Gly)	PTPRF (R888G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149361	NM_002840.5(PTPRF):c.2636T>C (p.Val879Ala)	PTPRF (V879A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149360	NM_002840.5(PTPRF):c.2596A>G (p.Asn866Asp)	PTPRF (N857D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149358	NM_002840.5(PTPRF):c.2561G>A (p.Arg854Gln)	PTPRF (R845Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149357	NM_002840.5(PTPRF):c.2530A>G (p.Lys844Glu)	PTPRF (K844E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149356	NM_002840.5(PTPRF):c.2363C>T (p.Thr788Ile)	PTPRF (T677I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149355	NM_002840.5(PTPRF):c.2245G>A (p.Val749Met)	PTPRF (V657M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149354	NM_002840.5(PTPRF):c.1964G>A (p.Gly655Glu)	PTPRF (G655E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149353	NM_002840.5(PTPRF):c.1736G>A (p.Arg579His)	PTPRF (R579H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149352	NM_002840.5(PTPRF):c.1679C>T (p.Thr560Ile)	PTPRF (T560I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149351	NM_002840.5(PTPRF):c.1219C>A (p.Arg407Ser)	PTPRF (R413S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149350	NM_002840.5(PTPRF):c.1043C>A (p.Thr348Asn)	PTPRF (T354N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3059678	NM_002840.5(PTPRF):c.471C>T (p.Ala157=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GBenign
Select item 3058430	NM_002840.5(PTPRF):c.3795G>A (p.Thr1265=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3057283	NM_002840.5(PTPRF):c.111A>G (p.Lys37=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3056750	NM_002840.5(PTPRF):c.2565G>A (p.Leu855=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GBenign
Select item 3053859	NM_002840.5(PTPRF):c.3389+4T>G	PTPRF	Single nucleotide variant (intron variant)	PTPRF-related disorder	GLikely benign
Select item 3053366	NM_002840.5(PTPRF):c.3132T>C (p.Phe1044=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3051896	NM_002840.5(PTPRF):c.1821C>T (p.Ser607=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3051560	NM_002840.5(PTPRF):c.1196C>T (p.Pro399Leu)	PTPRF (P399L +2 more)	Single nucleotide variant (missense variant)	PTPRF-related disorder	GLikely benign
Select item 3051139	NM_002840.5(PTPRF):c.4372-7C>T	PTPRF	Single nucleotide variant (intron variant)	PTPRF-related disorder	GLikely benign
Select item 3050188	NM_002840.5(PTPRF):c.4878G>A (p.Lys1626=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3050031	NM_002840.5(PTPRF):c.1349A>G (p.Tyr450Cys)	PTPRF (Y450C +2 more)	Single nucleotide variant (missense variant)	PTPRF-related disorder	GBenign
Select item 3046152	NM_002840.5(PTPRF):c.4923C>T (p.Leu1641=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3044522	NM_002840.5(PTPRF):c.1377G>A (p.Pro459=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3044069	NM_002840.5(PTPRF):c.3858G>A (p.Arg1286=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3043516	NM_002840.5(PTPRF):c.4962C>G (p.Ser1654=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3041659	NM_002840.5(PTPRF):c.1819T>A (p.Ser607Thr)	PTPRF (S607T)	Single nucleotide variant (missense variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3041439	NM_002840.5(PTPRF):c.636G>A (p.Ser212=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3041074	NM_002840.5(PTPRF):c.1323C>T (p.Asn441=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3040737	NM_002840.5(PTPRF):c.2640C>T (p.Thr880=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3038938	NM_002840.5(PTPRF):c.2602A>G (p.Ile868Val)	PTPRF (I859V +1 more)	Single nucleotide variant (missense variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3038762	NM_002840.5(PTPRF):c.2538G>C (p.Leu846=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 3033635	NM_002840.5(PTPRF):c.5457C>T (p.Ile1819=)	PTPRF	Single nucleotide variant (synonymous variant)	PTPRF-related disorder	GLikely benign
Select item 3033302	NM_002840.5(PTPRF):c.1684G>A (p.Asp562Asn)	PTPRF (D562N +2 more)	Single nucleotide variant (missense variant)	PTPRF-related disorder	GBenign
Select item 3033132	NM_002840.5(PTPRF):c.3974-829C>T	PTPRF (P1037L +2 more)	Single nucleotide variant (missense variant +1 more)	PTPRF-related disorder	GLikely benign
Select item 2681506	NM_002840.5(PTPRF):c.1950C>T (p.Asp650=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638760	NM_002840.5(PTPRF):c.2109C>T (p.Thr703=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638759	NM_002840.5(PTPRF):c.1944G>A (p.Ala648=)	PTPRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638758	NM_002840.5(PTPRF):c.78C>T (p.Gly26=)	PTPRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617770	NM_002840.5(PTPRF):c.5029G>A (p.Glu1677Lys)	PTPRF (E1399K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613846	NM_002840.5(PTPRF):c.3901G>A (p.Gly1301Arg)	PTPRF (G1020R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609949	NM_002840.5(PTPRF):c.953T>C (p.Leu318Pro)	PTPRF (L318P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608693	NM_002840.5(PTPRF):c.1644G>T (p.Trp548Cys)	PTPRF (W558C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606183	NM_002840.5(PTPRF):c.3427G>A (p.Gly1143Ser)	PTPRF (G1134S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605757	NM_002840.5(PTPRF):c.5306T>C (p.Met1769Thr)	PTPRF (M1465T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604465	NM_002840.5(PTPRF):c.29C>T (p.Thr10Met)	PTPRF (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597119	NM_002840.5(PTPRF):c.3343C>T (p.Arg1115Cys)	PTPRF (R811C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596101	NM_002840.5(PTPRF):c.3246C>A (p.Ser1082Arg)	PTPRF (S1082R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595477	NM_002840.5(PTPRF):c.5339G>A (p.Arg1780His)	PTPRF (R1496H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591475	NM_002840.5(PTPRF):c.3292G>A (p.Asp1098Asn)	PTPRF (D809N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589459	NM_002840.5(PTPRF):c.55G>A (p.Val19Met)	PTPRF (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558694	NM_002840.5(PTPRF):c.3478G>A (p.Asp1160Asn)	PTPRF (D1151N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550616	NM_002840.5(PTPRF):c.1423G>A (p.Val475Met)	PTPRF (V481M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544934	NM_002840.5(PTPRF):c.1960C>T (p.Arg654Cys)	PTPRF (R654C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539405	NM_002840.5(PTPRF):c.4595G>A (p.Arg1532Gln)	PTPRF (R1523Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534504	NM_002840.5(PTPRF):c.4761G>C (p.Arg1587Ser)	PTPRF (R1317S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534503	NM_002840.5(PTPRF):c.4753T>G (p.Ser1585Ala)	PTPRF (S1315A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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