ClinVar for Gene (Select 5793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311566	NM_002841.4(PTPRG):c.472T>C (p.Ser158Pro)	PTPRG (S158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311565	NM_002841.4(PTPRG):c.4056G>A (p.Glu1352=)	PTPRG, PTPRG-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3311564	NM_002841.4(PTPRG):c.2159A>G (p.Glu720Gly)	PTPRG (E720G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311563	NM_002841.4(PTPRG):c.804A>G (p.Ile268Met)	PTPRG (I268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311562	NM_002841.4(PTPRG):c.4258C>T (p.Pro1420Ser)	PTPRG, PTPRG-AS1 (P1420S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311561	NM_002841.4(PTPRG):c.859A>G (p.Ile287Val)	PTPRG (I287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311559	NM_002841.4(PTPRG):c.4129G>C (p.Val1377Leu)	PTPRG, PTPRG-AS1 (V1348L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311558	NM_002841.4(PTPRG):c.1925C>T (p.Pro642Leu)	PTPRG (P642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311557	NM_002841.4(PTPRG):c.1772G>A (p.Gly591Glu)	PTPRG (G591E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311556	NM_002841.4(PTPRG):c.470G>A (p.Gly157Asp)	PTPRG (G157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311555	NM_002841.4(PTPRG):c.3581T>C (p.Leu1194Pro)	PTPRG, PTPRG-AS1 (L1194P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311554	NM_002841.4(PTPRG):c.931C>T (p.Arg311Cys)	PTPRG (R311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311553	NM_002841.4(PTPRG):c.2639A>T (p.Tyr880Phe)	PTPRG, PTPRG-AS1 (Y880F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149405	NM_002841.4(PTPRG):c.620G>C (p.Ser207Thr)	PTPRG (S207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149404	NM_002841.4(PTPRG):c.58G>C (p.Val20Leu)	PTPRG (V20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149403	NM_002841.4(PTPRG):c.571A>G (p.Ile191Val)	PTPRG (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149402	NM_002841.4(PTPRG):c.49A>G (p.Thr17Ala)	PTPRG (T17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149400	NM_002841.4(PTPRG):c.470G>T (p.Gly157Val)	PTPRG (G157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149399	NM_002841.4(PTPRG):c.467A>G (p.Asn156Ser)	PTPRG (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149398	NM_002841.4(PTPRG):c.4039A>G (p.Thr1347Ala)	PTPRG, PTPRG-AS1 (T1318A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149397	NM_002841.4(PTPRG):c.3997A>G (p.Ile1333Val)	PTPRG, PTPRG-AS1 (I1304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149396	NM_002841.4(PTPRG):c.3821C>T (p.Ala1274Val)	PTPRG, PTPRG-AS1 (A1245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149395	NM_002841.4(PTPRG):c.376A>G (p.Ile126Val)	PTPRG (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149394	NM_002841.4(PTPRG):c.3393G>T (p.Gln1131His)	PTPRG, PTPRG-AS1 (Q1102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149393	NM_002841.4(PTPRG):c.3281A>G (p.His1094Arg)	PTPRG, PTPRG-AS1 (H1065R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149391	NM_002841.4(PTPRG):c.2504A>G (p.Lys835Arg)	PTPRG (K806R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149389	NM_002841.4(PTPRG):c.1984G>A (p.Ala662Thr)	PTPRG (A662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149388	NM_002841.4(PTPRG):c.197A>C (p.Tyr66Ser)	PTPRG (Y66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149387	NM_002841.4(PTPRG):c.1703C>T (p.Ser568Leu)	PTPRG (S568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149386	NM_002841.4(PTPRG):c.1465T>G (p.Phe489Val)	PTPRG (F489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149385	NM_002841.4(PTPRG):c.136G>A (p.Ala46Thr)	PTPRG (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149384	NM_002841.4(PTPRG):c.1282C>T (p.Arg428Trp)	PTPRG (R428W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062725	GRCh37/hg19 3p14.2(chr3:62215074-62390218)x1	CADPS, CEP15 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 3025815	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 3024856	NM_002841.4(PTPRG):c.1893C>T (p.Asn631=)	PTPRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024706	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2685923	GRCh37/hg19 3p14.2(chr3:61326494-61627053)x3	PTPRG	Copy number gain	not provided	GUncertain significance
Select item 2685922	GRCh37/hg19 3p14.2(chr3:61306671-61819114)x3	PTPRG	Copy number gain	not provided	GUncertain significance
Select item 2681508	NM_002841.4(PTPRG):c.3146G>A (p.Arg1049Gln)	PTPRG, PTPRG-AS1 (R1020Q +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2653933	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2653932	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2653931	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2653930	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2653929	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2653928	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2653927	NM_002841.4(PTPRG):c.2037C>T (p.Thr679=)	PTPRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653926	NM_002841.4(PTPRG):c.1653A>T (p.Pro551=)	PTPRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653925	NM_002841.4(PTPRG):c.1617G>A (p.Pro539=)	PTPRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653924	NM_002841.4(PTPRG):c.1542G>A (p.Thr514=)	PTPRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653923	NM_002841.4(PTPRG):c.1176C>T (p.Asp392=)	PTPRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616013	NM_002841.4(PTPRG):c.4207A>G (p.Ile1403Val)	PTPRG, PTPRG-AS1 (I1403V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614365	NM_002841.4(PTPRG):c.847G>T (p.Ala283Ser)	PTPRG (A283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603610	NM_002841.4(PTPRG):c.1661C>A (p.Ala554Asp)	PTPRG (A554D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595626	NM_002841.4(PTPRG):c.1963C>G (p.Gln655Glu)	PTPRG (Q655E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595522	NM_002841.4(PTPRG):c.325A>G (p.Asn109Asp)	PTPRG (N109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594056	NM_002841.4(PTPRG):c.1736A>G (p.Glu579Gly)	PTPRG (E579G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570283	NM_002841.4(PTPRG):c.1882T>G (p.Ser628Ala)	PTPRG (S628A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554709	NM_002841.4(PTPRG):c.3710T>C (p.Met1237Thr)	PTPRG, PTPRG-AS1 (M1208T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549530	NM_002841.4(PTPRG):c.123T>A (p.Asn41Lys)	PTPRG (N41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545420	NM_002841.4(PTPRG):c.3181A>G (p.Ser1061Gly)	PTPRG, PTPRG-AS1 (S1032G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531541	NM_002841.4(PTPRG):c.1552G>A (p.Gly518Ser)	PTPRG (G518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531382	NM_002841.4(PTPRG):c.2396A>G (p.His799Arg)	PTPRG (H770R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528927	NM_002841.4(PTPRG):c.71T>C (p.Val24Ala)	PTPRG (V24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486659	NM_002841.4(PTPRG):c.2681G>T (p.Arg894Ile)	PTPRG, PTPRG-AS1 (R865I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462004	NM_002841.4(PTPRG):c.1840G>A (p.Ala614Thr)	PTPRG (A614T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2406790	NM_002841.4(PTPRG):c.1292T>C (p.Met431Thr)	PTPRG (M431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401595	NM_002841.4(PTPRG):c.3431T>G (p.Val1144Gly)	PTPRG, PTPRG-AS1 (V1115G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399698	NM_002841.4(PTPRG):c.1810G>A (p.Glu604Lys)	PTPRG (E604K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394432	NM_002841.4(PTPRG):c.2113G>T (p.Asp705Tyr)	PTPRG (D705Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393798	NM_002841.4(PTPRG):c.3964C>G (p.Pro1322Ala)	PTPRG, PTPRG-AS1 (P1293A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391554	NM_002841.4(PTPRG):c.86C>T (p.Ala29Val)	PTPRG (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390557	NM_002841.4(PTPRG):c.1213G>A (p.Asp405Asn)	PTPRG (D405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390151	NM_002841.4(PTPRG):c.3566G>A (p.Arg1189His)	PTPRG, PTPRG-AS1 (R1160H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388880	NM_002841.4(PTPRG):c.3401G>A (p.Ser1134Asn)	PTPRG, PTPRG-AS1 (S1105N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387235	NM_002841.4(PTPRG):c.3211A>G (p.Ile1071Val)	PTPRG, PTPRG-AS1 (I1042V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385509	NM_002841.4(PTPRG):c.428T>A (p.Phe143Tyr)	PTPRG (F143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385508	NM_002841.4(PTPRG):c.1190C>T (p.Thr397Met)	PTPRG (T397M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385356	NM_002841.4(PTPRG):c.3974C>G (p.Pro1325Arg)	PTPRG, PTPRG-AS1 (P1325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378066	NM_002841.4(PTPRG):c.3998T>C (p.Ile1333Thr)	PTPRG, PTPRG-AS1 (I1304T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2372962	NM_002841.4(PTPRG):c.2226T>G (p.Ile742Met)	PTPRG (I742M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365998	NM_002841.4(PTPRG):c.497A>G (p.Asn166Ser)	PTPRG (N166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361628	NM_002841.4(PTPRG):c.2570G>A (p.Arg857His)	PTPRG, PTPRG-AS1 (R828H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2359414	NM_002841.4(PTPRG):c.4093A>G (p.Thr1365Ala)	PTPRG, PTPRG-AS1 (T1336A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353131	NM_002841.4(PTPRG):c.1693G>C (p.Asp565His)	PTPRG (D565H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352126	NM_002841.4(PTPRG):c.283G>T (p.Val95Phe)	PTPRG (V95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351372	NM_002841.4(PTPRG):c.659G>C (p.Gly220Ala)	PTPRG (G220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348758	NM_002841.4(PTPRG):c.4003G>A (p.Val1335Ile)	PTPRG, PTPRG-AS1 (V1335I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343044	NM_002841.4(PTPRG):c.3722A>G (p.His1241Arg)	PTPRG, PTPRG-AS1 (H1212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335757	NM_002841.4(PTPRG):c.4292T>C (p.Ile1431Thr)	PTPRG, PTPRG-AS1 (I1402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333345	NM_002841.4(PTPRG):c.3294G>C (p.Gln1098His)	PTPRG, PTPRG-AS1 (Q1098H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332822	NM_002841.4(PTPRG):c.1528G>C (p.Val510Leu)	PTPRG (V510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329282	NM_002841.4(PTPRG):c.26G>C (p.Trp9Ser)	PTPRG (W9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322175	NM_002841.4(PTPRG):c.3728C>T (p.Ala1243Val)	PTPRG, PTPRG-AS1 (A1214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315034	NM_002841.4(PTPRG):c.4220T>A (p.Met1407Lys)	PTPRG, PTPRG-AS1 (M1378K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311425	NM_002841.4(PTPRG):c.1682C>A (p.Ser561Tyr)	PTPRG (S561Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310505	NM_002841.4(PTPRG):c.2475G>A (p.Met825Ile)	PTPRG (M825I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301508	NM_002841.4(PTPRG):c.3605G>A (p.Gly1202Glu)	PTPRG, PTPRG-AS1 (G1173E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298660	NM_002841.4(PTPRG):c.1831G>A (p.Val611Met)	PTPRG (V611M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298075	NM_002841.4(PTPRG):c.5G>A (p.Arg2Gln)	PTPRG (R2Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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