PTPRT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59977	GRCh38/hg38 20q12(chr20:41822419-42468515)x1	LOC129391177, LOC129391178 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1285993	NM_007050.6(PTPRT):c.*1640G>A	PTPRT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3046011	NM_007050.6(PTPRT):c.4290A>G (p.Val1430=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 208864	NM_007050.6(PTPRT):c.4240C>T (p.Arg1414Cys)	PTPRT (R1433C +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 3149640	NM_007050.6(PTPRT):c.4212T>G (p.Ile1404Met)	PTPRT (I1412M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603989	NM_007050.6(PTPRT):c.4168G>A (p.Ala1390Thr)	PTPRT (A1398T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652338	NM_007050.6(PTPRT):c.4151G>A (p.Arg1384His)	PTPRT (R1384H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3056155	NM_007050.6(PTPRT):c.4136+8C>T	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 2379375	NM_007050.6(PTPRT):c.4118G>A (p.Arg1373His)	PTPRT (R1373H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469393	NM_007050.6(PTPRT):c.4105G>A (p.Gly1369Arg)	PTPRT (G1369R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696574	NM_007050.6(PTPRT):c.4073G>C (p.Arg1358Pro)	PTPRT (R1358P +2 more)	Single nucleotide variant (missense variant)	PTPRT-associated neurodevelopmentaldisorder	GUncertain significance
Select item 3053373	NM_007050.6(PTPRT):c.4038G>A (p.Thr1346=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 92127	NM_007050.6(PTPRT):c.4037C>T (p.Thr1346Met)	PTPRT (T1365M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3149639	NM_007050.6(PTPRT):c.4025C>T (p.Ala1342Val)	PTPRT (A1350V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524651	NM_007050.6(PTPRT):c.3971G>A (p.Arg1324Gln)	PTPRT (R1324Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149637	NM_007050.6(PTPRT):c.3953G>A (p.Arg1318His)	PTPRT (R1318H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048700	NM_007050.6(PTPRT):c.3883T>A (p.Cys1295Ser)	PTPRT (C1295S +2 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GLikely benign
Select item 2313563	NM_007050.6(PTPRT):c.3880G>A (p.Gly1294Arg)	PTPRT (G1294R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060307	NM_007050.6(PTPRT):c.3861C>T (p.Tyr1287=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GBenign
Select item 2516213	NM_007050.6(PTPRT):c.3769G>A (p.Val1257Met)	PTPRT (V1276M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737495	NM_007050.6(PTPRT):c.3745A>G (p.Thr1249Ala)	PTPRT (T1249A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2243171	NM_007050.6(PTPRT):c.3739G>C (p.Val1247Leu)	PTPRT (V1246L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389870	NM_007050.6(PTPRT):c.3733G>A (p.Ala1245Thr)	PTPRT (A1244T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710979	NM_007050.6(PTPRT):c.3703G>A (p.Ala1235Thr)	PTPRT (A1254T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3149636	NM_007050.6(PTPRT):c.3647G>A (p.Arg1216His)	PTPRT (R1215H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730922	NM_007050.6(PTPRT):c.3630C>T (p.Asp1210=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GLikely benign
Select item 3044785	NM_007050.6(PTPRT):c.3622A>G (p.Ser1208Gly)	PTPRT (S1207G +3 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GLikely benign
Select item 2213234	NM_007050.6(PTPRT):c.3563G>A (p.Arg1188His)	PTPRT (R1187H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329361	NM_007050.6(PTPRT):c.3551T>C (p.Ile1184Thr)	PTPRT (I1183T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360509	NM_007050.6(PTPRT):c.3455C>T (p.Pro1152Leu)	PTPRT (P1171L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708273	NM_007050.6(PTPRT):c.3345C>T (p.Cys1115=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign/Likely benign
Select item 2652339	NM_007050.6(PTPRT):c.3313G>A (p.Glu1105Lys)	PTPRT (E1104K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404763	NM_007050.6(PTPRT):c.3295A>G (p.Thr1099Ala)	PTPRT (T1098A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228654	NM_007050.6(PTPRT):c.3224C>T (p.Pro1075Leu)	PTPRT (P1074L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727566	NM_007050.6(PTPRT):c.3159C>T (p.His1053=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 3059599	NM_007050.6(PTPRT):c.3099+10T>C	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 780075	NM_007050.6(PTPRT):c.2993T>C (p.Val998Ala)	PTPRT (V998A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2351952	NM_007050.6(PTPRT):c.2941G>A (p.Ala981Thr)	PTPRT (A1000T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790217	NM_007050.6(PTPRT):c.2940C>T (p.Ser980=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2234345	NM_007050.6(PTPRT):c.2936A>T (p.Asn979Ile)	PTPRT (N979I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149634	NM_007050.6(PTPRT):c.2873T>C (p.Ile958Thr)	PTPRT (I958T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769091	NM_007050.6(PTPRT):c.2797G>C (p.Val933Leu)	PTPRT (V933L +1 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder +1 more	GBenign
Select item 3044302	NM_007050.6(PTPRT):c.2788A>C (p.Arg930=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 3033796	NM_007050.6(PTPRT):c.2683-9G>T	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 3149633	NM_007050.6(PTPRT):c.2602G>A (p.Ala868Thr)	PTPRT (A867T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474603	NM_007050.6(PTPRT):c.2585G>A (p.Arg862Gln)	PTPRT (R861Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 72767	NM_007050.6(PTPRT):c.2532G>A (p.Thr844=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778882	NM_007050.6(PTPRT):c.2514T>C (p.Leu838=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 2465373	NM_007050.6(PTPRT):c.2503C>T (p.Arg835Cys)	PTPRT (R835C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367947	NM_007050.6(PTPRT):c.2485G>A (p.Gly829Arg)	PTPRT (G848R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541284	NM_007050.6(PTPRT):c.2479G>A (p.Val827Ile)	PTPRT (V827I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339331	NM_007050.6(PTPRT):c.2469T>A (p.Ser823Arg)	PTPRT (S823R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343043	NM_007050.6(PTPRT):c.2451T>A (p.Asp817Glu)	PTPRT (D836E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769092	NM_007050.6(PTPRT):c.2437G>A (p.Ala813Thr)	PTPRT (A832T +1 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder +1 more	GBenign
Select item 2369459	NM_007050.6(PTPRT):c.2415C>A (p.Asp805Glu)	PTPRT (D824E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348195	NM_007050.6(PTPRT):c.2373G>C (p.Gln791His)	PTPRT (Q800H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545234	NC_000020.11:g.(?_42232174)_(42274201_?)del	PTPRT	Deletion	Schizophrenia	GLikely pathogenic
Select item 757207	NM_007050.6(PTPRT):c.2313-4A>G	PTPRT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2280003	NM_007050.6(PTPRT):c.2302A>G (p.Ile768Val)	PTPRT (I768V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652340	NM_007050.6(PTPRT):c.2281C>G (p.Leu761Val)	PTPRT (L761V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3149632	NM_007050.6(PTPRT):c.2279T>C (p.Ile760Thr)	PTPRT (I760T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149631	NM_007050.6(PTPRT):c.2227A>C (p.Asn743His)	PTPRT (N743H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633669	NM_007050.6(PTPRT):c.2203G>A (p.Val735Met)	PTPRT (V735M +1 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GUncertain significance
Select item 734405	NM_007050.6(PTPRT):c.2176+12068A>C	PTPRT (T737P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2371131	NM_007050.6(PTPRT):c.2176+12063C>T	PTPRT (P735L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365847	NM_007050.6(PTPRT):c.2176+12041A>G	PTPRT (M728V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044271	NM_007050.6(PTPRT):c.2151C>T (p.Ile717=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 545235	NC_000020.11:g.(?_42303583)_(42488707_?)del	PTPRT	Deletion	Autism	GLikely pathogenic
Select item 3047530	NM_007050.6(PTPRT):c.2049C>T (p.Asp683=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 2550175	NM_007050.6(PTPRT):c.2030A>G (p.Gln677Arg)	PTPRT (Q677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149630	NM_007050.6(PTPRT):c.1975G>A (p.Asp659Asn)	PTPRT (D659N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047760	NM_007050.6(PTPRT):c.1974C>T (p.Leu658=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 3149629	NM_007050.6(PTPRT):c.1924A>T (p.Ile642Phe)	PTPRT (I642F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476635	NM_007050.6(PTPRT):c.1849C>T (p.Arg617Trp)	PTPRT (R617W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736819	NM_007050.6(PTPRT):c.1782C>T (p.Tyr594=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302266	NM_007050.6(PTPRT):c.1774C>T (p.Pro592Ser)	PTPRT (P592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781565	NM_007050.6(PTPRT):c.1713A>G (p.Ala571=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2390940	NM_007050.6(PTPRT):c.1711G>A (p.Ala571Thr)	PTPRT (A571T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721890	NM_007050.6(PTPRT):c.1665T>C (p.Gly555=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652341	NM_007050.6(PTPRT):c.1658T>C (p.Phe553Ser)	PTPRT (F553S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3149628	NM_007050.6(PTPRT):c.1616G>A (p.Arg539Lys)	PTPRT (R539K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149627	NM_007050.6(PTPRT):c.1595G>C (p.Ser532Thr)	PTPRT (S532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053559	NM_007050.6(PTPRT):c.1584G>A (p.Ser528=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 2376039	NM_007050.6(PTPRT):c.1579G>A (p.Gly527Ser)	PTPRT (G527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617636	NM_007050.6(PTPRT):c.1573G>A (p.Ala525Thr)	PTPRT (A525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402164	NM_007050.6(PTPRT):c.1561-3C>T	PTPRT	Single nucleotide variant (intron variant)	Abnormal brain morphology	GLikely pathogenic
Select item 145099	GRCh38/hg38 20q12(chr20:42438777-42478707)x3	PTPRT	Copy number gain	See cases	GBenign
Select item 2404762	NM_007050.6(PTPRT):c.1543G>A (p.Val515Ile)	PTPRT (V515I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496007	NM_007050.6(PTPRT):c.1522C>A (p.Pro508Thr)	PTPRT (P508T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652342	NM_007050.6(PTPRT):c.1488G>C (p.Gly496=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2527252	NM_007050.6(PTPRT):c.1462G>C (p.Val488Leu)	PTPRT (V488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545236	NC_000020.11:g.(?_42461895)_(42648116_?)del	PTPRT	Deletion	Autism	GLikely pathogenic
Select item 545237	NC_000020.11:g.(?_42472130)_(42562200_?)del	PTPRT	Deletion	Schizophrenia	GLikely pathogenic
Select item 782060	NM_007050.6(PTPRT):c.1434G>A (p.Val478=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3034512	NM_007050.6(PTPRT):c.1401C>T (p.Pro467=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 739037	NM_007050.6(PTPRT):c.1341C>T (p.Tyr447=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652343	NM_007050.6(PTPRT):c.1306G>A (p.Glu436Lys)	PTPRT (E436K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782061	NM_007050.6(PTPRT):c.1305C>T (p.Tyr435=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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