PTPRG-AS1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
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 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 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 2278877	NM_002841.4(PTPRG):c.2809A>G (p.Arg937Gly)	PTPRG, PTPRG-AS1 (R908G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208476	NM_002841.4(PTPRG):c.2936C>T (p.Thr979Met)	PTPRG, PTPRG-AS1 (T979M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223061	NM_002841.4(PTPRG):c.3035G>A (p.Arg1012His)	PTPRG, PTPRG-AS1 (R1012H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288383	NM_002841.4(PTPRG):c.3116T>C (p.Leu1039Pro)	PTPRG, PTPRG-AS1 (L1010P +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 713937	NM_002841.4(PTPRG):c.3262G>A (p.Val1088Ile)	PTPRG, PTPRG-AS1 (V1088I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 3025815	NM_002841.4(PTPRG):c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG, PTPRG-AS1	Insertion (intron 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 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 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 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 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 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 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 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 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 2279445	NM_002841.4(PTPRG):c.4049A>G (p.His1350Arg)	PTPRG, PTPRG-AS1 (H1350R +1 more)	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 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 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 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 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 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 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

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Items: 49