| 9687462 | CV171949 | single nucleotide variant | NM_080683.2(PTPN13):c.1196-7C>T | Malignant melanoma of skin [RCV000149689] | not provided | 4 | 86716523 | 86716523 | Human | | name |
| 9687463 | CV171950 | single nucleotide variant | NM_080683.2(PTPN13):c.3224-7C>T | Malignant melanoma of skin [RCV000149690] | not provided | 4 | 86758253 | 86758253 | Human | | name |
| 9687464 | CV171951 | single nucleotide variant | NM_080683.2(PTPN13):c.3314-7T>G | Malignant melanoma of skin [RCV000149691] | not provided | 4 | 86758671 | 86758671 | Human | | name |
| 598208963 | CV3894818 | single nucleotide variant | NM_080683.3(PTPN13):c.3068+1G>T | not provided [RCV005358294] | not provided | 4 | 86750888 | 86750888 | Human | | name |
| 15099308 | CV777397 | single nucleotide variant | NM_080683.3(PTPN13):c.2151+3A>G | not provided [RCV000958742] | benign | 4 | 86734878 | 86734878 | Human | | name |
| 401928277 | CV2822651 | single nucleotide variant | NM_080683.3(PTPN13):c.21G>A (p.Glu7=) | not provided [RCV003439385] | likely benign | 4 | 86635277 | 86635277 | Human | | name |
| 597782122 | CV3585070 | single nucleotide variant | NM_080683.3(PTPN13):c.52G>A (p.Glu18Lys) | not specified [RCV004853906] | uncertain significance | 4 | 86635308 | 86635308 | Human | | name |
| 15145777 | CV734752 | single nucleotide variant | NM_080683.3(PTPN13):c.819C>T (p.Ser273=) | not provided [RCV000900215] | benign | 4 | 86701425 | 86701425 | Human | | name |
| 401739021 | CV2673206 | single nucleotide variant | NM_080683.3(PTPN13):c.272C>G (p.Thr91Ser) | not specified [RCV004286015] | likely benign | 4 | 86672521 | 86672521 | Human | | name |
| 405688876 | CV3318318 | single nucleotide variant | NM_080683.3(PTPN13):c.218A>G (p.Asn73Ser) | not specified [RCV004444951] | uncertain significance | 4 | 86672467 | 86672467 | Human | | name |
| 407472472 | CV3468373 | single nucleotide variant | NM_080683.3(PTPN13):c.242C>T (p.Ala81Val) | not specified [RCV004662511] | uncertain significance | 4 | 86672491 | 86672491 | Human | | name |
| 15153899 | CV721099 | single nucleotide variant | NM_080683.3(PTPN13):c.268C>G (p.Leu90Val) | PTPN13-related disorder [RCV005392498]|not provided [RCV000880104] | benign|likely benign | 4 | 86672517 | 86672517 | Human | | name , trait |
| 126911247 | CV1037516 | single nucleotide variant | NM_080683.3(PTPN13):c.865G>A (p.Gly289Ser) | not provided [RCV001355152] | likely benign | 4 | 86701471 | 86701471 | Human | | name |
| 156045971 | CV2234560 | single nucleotide variant | NM_080683.3(PTPN13):c.661G>C (p.Asp221His) | not specified [RCV004102537] | uncertain significance | 4 | 86701267 | 86701267 | Human | | name |
| 156177792 | CV2258192 | single nucleotide variant | NM_080683.3(PTPN13):c.379C>A (p.His127Asn) | not specified [RCV004121571] | uncertain significance | 4 | 86689023 | 86689023 | Human | | name |
| 156017340 | CV2262827 | single nucleotide variant | NM_080683.3(PTPN13):c.662A>G (p.Asp221Gly) | not specified [RCV004131244] | uncertain significance | 4 | 86701268 | 86701268 | Human | | name |
| 155957356 | CV2282056 | single nucleotide variant | NM_080683.3(PTPN13):c.931A>G (p.Arg311Gly) | not specified [RCV004138806] | uncertain significance | 4 | 86701537 | 86701537 | Human | | name |
| 155995299 | CV2286513 | single nucleotide variant | NM_080683.3(PTPN13):c.569G>A (p.Ser190Asn) | not specified [RCV004140014] | uncertain significance | 4 | 86693609 | 86693609 | Human | | name |
| 156102586 | CV2291510 | single nucleotide variant | NM_080683.3(PTPN13):c.744T>G (p.Asp248Glu) | not specified [RCV004155819] | uncertain significance | 4 | 86701350 | 86701350 | Human | | name |
| 156044508 | CV2305932 | single nucleotide variant | NM_080683.3(PTPN13):c.676C>T (p.Pro226Ser) | not specified [RCV004167714] | uncertain significance | 4 | 86701282 | 86701282 | Human | | name |
| 329387142 | CV2436288 | single nucleotide variant | NM_080683.3(PTPN13):c.995G>A (p.Arg332Gln) | not specified [RCV004251694] | uncertain significance | 4 | 86701601 | 86701601 | Human | | name |
| 401729218 | CV2683608 | single nucleotide variant | NM_080683.3(PTPN13):c.608G>A (p.Arg203Gln) | not specified [RCV004282533] | uncertain significance | 4 | 86693648 | 86693648 | Human | | name |
| 401732988 | CV2691169 | single nucleotide variant | NM_080683.3(PTPN13):c.614G>A (p.Arg205Gln) | not specified [RCV004302946] | uncertain significance | 4 | 86693654 | 86693654 | Human | | name |
| 401861618 | CV2756378 | single nucleotide variant | NM_080683.3(PTPN13):c.794G>A (p.Arg265His) | not specified [RCV004342920] | likely benign | 4 | 86701400 | 86701400 | Human | | name |
| 401885294 | CV2768056 | single nucleotide variant | NM_080683.3(PTPN13):c.547A>G (p.Thr183Ala) | not specified [RCV004348295] | uncertain significance | 4 | 86693587 | 86693587 | Human | | name |
| 401923411 | CV2822652 | single nucleotide variant | NM_080683.3(PTPN13):c.6684G>A (p.Gln2228=) | not provided [RCV003435072] | likely benign | 4 | 86805308 | 86805308 | Human | | name |
| 405688947 | CV3318333 | single nucleotide variant | NM_080683.3(PTPN13):c.440G>A (p.Arg147Gln) | not specified [RCV004444966] | uncertain significance | 4 | 86689084 | 86689084 | Human | | name |
| 405688964 | CV3318336 | single nucleotide variant | NM_080683.3(PTPN13):c.505G>A (p.Val169Met) | not specified [RCV004444969] | uncertain significance | 4 | 86689149 | 86689149 | Human | | name |
| 405688990 | CV3318342 | single nucleotide variant | NM_080683.3(PTPN13):c.572A>C (p.Glu191Ala) | not specified [RCV004444975] | uncertain significance | 4 | 86693612 | 86693612 | Human | | name |
| 405688995 | CV3318343 | single nucleotide variant | NM_080683.3(PTPN13):c.572A>T (p.Glu191Val) | not specified [RCV004444976] | uncertain significance | 4 | 86693612 | 86693612 | Human | | name |
| 405689003 | CV3318345 | single nucleotide variant | NM_080683.3(PTPN13):c.602G>A (p.Arg201Gln) | not specified [RCV004444978] | uncertain significance | 4 | 86693642 | 86693642 | Human | | name |
| 405689075 | CV3318360 | single nucleotide variant | NM_080683.3(PTPN13):c.826C>G (p.Gln276Glu) | not specified [RCV004444993] | uncertain significance | 4 | 86701432 | 86701432 | Human | | name |
| 405689080 | CV3318361 | single nucleotide variant | NM_080683.3(PTPN13):c.953C>T (p.Thr318Ile) | not specified [RCV004444994] | uncertain significance | 4 | 86701559 | 86701559 | Human | | name |
| 405689085 | CV3318362 | single nucleotide variant | NM_080683.3(PTPN13):c.985G>A (p.Val329Ile) | not specified [RCV004444995] | uncertain significance | 4 | 86701591 | 86701591 | Human | | name |
| 407472479 | CV3468374 | single nucleotide variant | NM_080683.3(PTPN13):c.904T>C (p.Ser302Pro) | not specified [RCV004662512] | uncertain significance | 4 | 86701510 | 86701510 | Human | | name |
| 407472503 | CV3468379 | single nucleotide variant | NM_080683.3(PTPN13):c.524T>C (p.Leu175Pro) | not specified [RCV004662516] | uncertain significance | 4 | 86689168 | 86689168 | Human | | name |
| 597782126 | CV3585071 | single nucleotide variant | NM_080683.3(PTPN13):c.654T>A (p.Asp218Glu) | not specified [RCV004853907] | uncertain significance | 4 | 86701260 | 86701260 | Human | | name |
| 598181509 | CV3904836 | single nucleotide variant | NM_080683.3(PTPN13):c.994C>T (p.Arg332Trp) | not specified [RCV005265230] | uncertain significance | 4 | 86701600 | 86701600 | Human | | name |
| 598181515 | CV3904837 | single nucleotide variant | NM_080683.3(PTPN13):c.482A>G (p.Asn161Ser) | not specified [RCV005265231] | uncertain significance | 4 | 86689126 | 86689126 | Human | | name |
| 598181561 | CV3904846 | single nucleotide variant | NM_080683.3(PTPN13):c.992T>G (p.Val331Gly) | not specified [RCV005265240] | uncertain significance | 4 | 86701598 | 86701598 | Human | | name |
| 598181606 | CV3904858 | single nucleotide variant | NM_080683.3(PTPN13):c.767A>C (p.Lys256Thr) | not specified [RCV005265252] | uncertain significance | 4 | 86701373 | 86701373 | Human | | name |
| 598176380 | CV4008118 | single nucleotide variant | NM_080683.3(PTPN13):c.898G>A (p.Ala300Thr) | PTPN13-related disorder [RCV005393634] | uncertain significance | 4 | 86701504 | 86701504 | Human | | name , trait |
| 598176385 | CV4008119 | single nucleotide variant | NM_080683.3(PTPN13):c.986T>C (p.Val329Ala) | PTPN13-related disorder [RCV005393635] | uncertain significance | 4 | 86701592 | 86701592 | Human | | name , trait |
| 15107357 | CV721100 | single nucleotide variant | NM_080683.3(PTPN13):c.968G>A (p.Arg323His) | not provided [RCV000893460] | benign | 4 | 86701574 | 86701574 | Human | | name |
| 15106864 | CV721102 | single nucleotide variant | NM_080683.3(PTPN13):c.7368A>G (p.Gln2456=) | not provided [RCV000893364] | likely benign | 4 | 86814461 | 86814461 | Human | | name |
| 15169176 | CV749095 | single nucleotide variant | NM_080683.3(PTPN13):c.5235T>C (p.Ala1745=) | not provided [RCV000927444] | likely benign | 4 | 86772844 | 86772844 | Human | | name |
| 126914417 | CV1037517 | single nucleotide variant | NM_080683.3(PTPN13):c.1012A>G (p.Arg338Gly) | not provided [RCV001358237] | uncertain significance | 4 | 86701618 | 86701618 | Human | | name |
| 126913589 | CV1037518 | single nucleotide variant | NM_080683.3(PTPN13):c.2404G>A (p.Val802Ile) | not provided [RCV001357512] | uncertain significance | 4 | 86741733 | 86741733 | Human | | name |
| 126911794 | CV1037519 | single nucleotide variant | NM_080683.3(PTPN13):c.2834C>T (p.Pro945Leu) | not provided [RCV001355768] | uncertain significance | 4 | 86750653 | 86750653 | Human | | name |
| 156235334 | CV2193385 | single nucleotide variant | NM_080683.3(PTPN13):c.2236G>A (p.Glu746Lys) | not specified [RCV004072887] | uncertain significance | 4 | 86735678 | 86735678 | Human | | name |
| 156084038 | CV2205557 | single nucleotide variant | NM_080683.3(PTPN13):c.1552A>G (p.Arg518Gly) | not specified [RCV004082484] | uncertain significance | 4 | 86722378 | 86722378 | Human | | name |
| 156401597 | CV2207438 | single nucleotide variant | NM_080683.3(PTPN13):c.2714G>A (p.Arg905Gln) | not specified [RCV004089924] | uncertain significance | 4 | 86750533 | 86750533 | Human | | name |
| 156233108 | CV2227734 | single nucleotide variant | NM_080683.3(PTPN13):c.2941C>T (p.His981Tyr) | not specified [RCV004094120] | uncertain significance | 4 | 86750760 | 86750760 | Human | | name |
| 156086980 | CV2258948 | single nucleotide variant | NM_080683.3(PTPN13):c.2810G>A (p.Cys937Tyr) | not specified [RCV004120228] | uncertain significance | 4 | 86750629 | 86750629 | Human | | name |
| 156147328 | CV2289401 | single nucleotide variant | NM_080683.3(PTPN13):c.1904T>C (p.Val635Ala) | not specified [RCV004152360] | uncertain significance | 4 | 86734348 | 86734348 | Human | | name |
| 156188110 | CV2302837 | single nucleotide variant | NM_080683.3(PTPN13):c.2374G>A (p.Gly792Arg) | not specified [RCV004162740] | uncertain significance | 4 | 86741703 | 86741703 | Human | | name |
| 156259288 | CV2304941 | single nucleotide variant | NM_080683.3(PTPN13):c.2480C>A (p.Ser827Tyr) | not specified [RCV004168845] | uncertain significance | 4 | 86741809 | 86741809 | Human | | name |
| 156152367 | CV2307626 | single nucleotide variant | NM_080683.3(PTPN13):c.2351A>G (p.His784Arg) | not specified [RCV004168045] | uncertain significance | 4 | 86741680 | 86741680 | Human | | name |
| 156326605 | CV2331973 | single nucleotide variant | NM_080683.3(PTPN13):c.2543C>T (p.Thr848Ile) | not specified [RCV004189032] | uncertain significance | 4 | 86745021 | 86745021 | Human | | name |
| 156288797 | CV2332976 | single nucleotide variant | NM_080683.3(PTPN13):c.2450G>A (p.Arg817His) | not specified [RCV004194277] | uncertain significance | 4 | 86741779 | 86741779 | Human | | name |
| 156288056 | CV2336266 | single nucleotide variant | NM_080683.3(PTPN13):c.1741G>A (p.Gly581Arg) | not specified [RCV004192019] | uncertain significance | 4 | 86732649 | 86732649 | Human | | name |
| 156156927 | CV2359895 | single nucleotide variant | NM_080683.3(PTPN13):c.1400C>T (p.Thr467Ile) | not specified [RCV004212745] | uncertain significance | 4 | 86722226 | 86722226 | Human | | name |
| 156259864 | CV2381042 | single nucleotide variant | NM_080683.3(PTPN13):c.2124G>T (p.Gln708His) | not specified [RCV004225080] | uncertain significance | 4 | 86734848 | 86734848 | Human | | name |
| 155905888 | CV2393818 | single nucleotide variant | NM_080683.3(PTPN13):c.1607G>T (p.Arg536Met) | not specified [RCV004233647] | uncertain significance | 4 | 86722433 | 86722433 | Human | | name |
| 329375643 | CV2441037 | single nucleotide variant | NM_080683.3(PTPN13):c.2709G>A (p.Met903Ile) | not specified [RCV004261407] | uncertain significance | 4 | 86750528 | 86750528 | Human | | name |
| 329399567 | CV2443262 | single nucleotide variant | NM_080683.3(PTPN13):c.1096C>G (p.Arg366Gly) | not specified [RCV004260067] | uncertain significance | 4 | 86701702 | 86701702 | Human | | name |
| 329363347 | CV2446168 | single nucleotide variant | NM_080683.3(PTPN13):c.2056G>A (p.Asp686Asn) | not specified [RCV004264577] | uncertain significance | 4 | 86734780 | 86734780 | Human | | name |
| 329395669 | CV2454450 | single nucleotide variant | NM_080683.3(PTPN13):c.1101A>C (p.Glu367Asp) | not specified [RCV004267953] | uncertain significance | 4 | 86701707 | 86701707 | Human | | name |
| 329401851 | CV2457941 | single nucleotide variant | NM_080683.3(PTPN13):c.2068G>C (p.Glu690Gln) | not specified [RCV004271526] | uncertain significance | 4 | 86734792 | 86734792 | Human | | name |
| 329357003 | CV2460648 | single nucleotide variant | NM_080683.3(PTPN13):c.2119C>G (p.Leu707Val) | not specified [RCV004270699] | uncertain significance | 4 | 86734843 | 86734843 | Human | | name |
| 329371136 | CV2461960 | single nucleotide variant | NM_080683.3(PTPN13):c.1180G>A (p.Ala394Thr) | not specified [RCV004271859] | uncertain significance | 4 | 86701786 | 86701786 | Human | | name |
| 401771945 | CV2689663 | single nucleotide variant | NM_080683.3(PTPN13):c.2942A>G (p.His981Arg) | not specified [RCV004297590] | uncertain significance | 4 | 86750761 | 86750761 | Human | | name |
| 401746694 | CV2691962 | single nucleotide variant | NM_080683.3(PTPN13):c.1723A>G (p.Asn575Asp) | not specified [RCV004301692] | uncertain significance | 4 | 86732631 | 86732631 | Human | | name |
| 405688732 | CV3318312 | single nucleotide variant | NM_080683.3(PTPN13):c.1156A>G (p.Lys386Glu) | not specified [RCV004444945] | uncertain significance | 4 | 86701762 | 86701762 | Human | | name |
| 405688736 | CV3318313 | single nucleotide variant | NM_080683.3(PTPN13):c.1528A>G (p.Lys510Glu) | not specified [RCV004444946] | uncertain significance | 4 | 86722354 | 86722354 | Human | | name |
| 405688740 | CV3318314 | single nucleotide variant | NM_080683.3(PTPN13):c.1559C>T (p.Pro520Leu) | not specified [RCV004444947] | uncertain significance | 4 | 86722385 | 86722385 | Human | | name |
| 405688744 | CV3318315 | single nucleotide variant | NM_080683.3(PTPN13):c.1656A>G (p.Ile552Met) | not specified [RCV004444948] | uncertain significance | 4 | 86732447 | 86732447 | Human | | name |
| 405688749 | CV3318316 | single nucleotide variant | NM_080683.3(PTPN13):c.2069A>G (p.Glu690Gly) | not specified [RCV004444949] | uncertain significance | 4 | 86734793 | 86734793 | Human | | name |
| 405688752 | CV3318317 | single nucleotide variant | NM_080683.3(PTPN13):c.2168A>G (p.Tyr723Cys) | not specified [RCV004444950] | uncertain significance | 4 | 86735610 | 86735610 | Human | | name |
| 405688881 | CV3318319 | single nucleotide variant | NM_080683.3(PTPN13):c.2252A>G (p.His751Arg) | not specified [RCV004444952] | uncertain significance | 4 | 86735694 | 86735694 | Human | | name |
| 405688885 | CV3318320 | single nucleotide variant | NM_080683.3(PTPN13):c.2289G>C (p.Glu763Asp) | not specified [RCV004444953] | uncertain significance | 4 | 86735731 | 86735731 | Human | | name |
| 405688890 | CV3318321 | single nucleotide variant | NM_080683.3(PTPN13):c.2426A>G (p.Asn809Ser) | not specified [RCV004444954] | uncertain significance | 4 | 86741755 | 86741755 | Human | | name |
| 405688900 | CV3318323 | single nucleotide variant | NM_080683.3(PTPN13):c.2806T>C (p.Ser936Pro) | not specified [RCV004444956] | uncertain significance | 4 | 86750625 | 86750625 | Human | | name |
| 405688904 | CV3318324 | single nucleotide variant | NM_080683.3(PTPN13):c.2891G>A (p.Arg964Lys) | not specified [RCV004444957] | uncertain significance | 4 | 86750710 | 86750710 | Human | | name |
| 405688908 | CV3318325 | single nucleotide variant | NM_080683.3(PTPN13):c.2912A>G (p.His971Arg) | not specified [RCV004444958] | uncertain significance | 4 | 86750731 | 86750731 | Human | | name |
| 405688914 | CV3318326 | single nucleotide variant | NM_080683.3(PTPN13):c.2971C>A (p.Pro991Thr) | not specified [RCV004444959] | uncertain significance | 4 | 86750790 | 86750790 | Human | | name |
| 405869652 | CV3397881 | single nucleotide variant | NM_080683.3(PTPN13):c.1625A>G (p.Glu542Gly) | Meniere disease [RCV004573524] | uncertain significance | 4 | 86732416 | 86732416 | Human | 1 | name |
| 405869653 | CV3397882 | single nucleotide variant | NM_080683.3(PTPN13):c.1931C>T (p.Pro644Leu) | Meniere disease [RCV004573525] | uncertain significance | 4 | 86734375 | 86734375 | Human | 1 | name |
| 407472499 | CV3468377 | single nucleotide variant | NM_080683.3(PTPN13):c.1331G>A (p.Ser444Asn) | not specified [RCV004662515] | uncertain significance | 4 | 86717063 | 86717063 | Human | | name |
| 407472521 | CV3468384 | single nucleotide variant | NM_080683.3(PTPN13):c.1972T>C (p.Phe658Leu) | not specified [RCV004662520] | uncertain significance | 4 | 86734416 | 86734416 | Human | | name |
| 407491415 | CV3468390 | single nucleotide variant | NM_080683.3(PTPN13):c.1037A>G (p.Asp346Gly) | not specified [RCV004666888] | uncertain significance | 4 | 86701643 | 86701643 | Human | | name |
| 407472546 | CV3468391 | single nucleotide variant | NM_080683.3(PTPN13):c.2977C>T (p.Pro993Ser) | not specified [RCV004662526] | uncertain significance | 4 | 86750796 | 86750796 | Human | | name |
| 407491419 | CV3468393 | single nucleotide variant | NM_080683.3(PTPN13):c.1836G>T (p.Leu612Phe) | not specified [RCV004666889] | uncertain significance | 4 | 86732744 | 86732744 | Human | | name |
| 407472554 | CV3468394 | single nucleotide variant | NM_080683.3(PTPN13):c.1046T>G (p.Ile349Arg) | not specified [RCV004662528] | uncertain significance | 4 | 86701652 | 86701652 | Human | | name |
| 407491427 | CV3468398 | single nucleotide variant | NM_080683.3(PTPN13):c.2972C>T (p.Pro991Leu) | not specified [RCV004666891] | uncertain significance | 4 | 86750791 | 86750791 | Human | | name |
| 597782071 | CV3585058 | single nucleotide variant | NM_080683.3(PTPN13):c.1444C>T (p.Arg482Trp) | not specified [RCV004853894] | uncertain significance | 4 | 86722270 | 86722270 | Human | | name |
| 597782084 | CV3585061 | single nucleotide variant | NM_080683.3(PTPN13):c.1672C>T (p.Arg558Trp) | not specified [RCV004853897] | uncertain significance | 4 | 86732463 | 86732463 | Human | | name |
| 597782100 | CV3585065 | single nucleotide variant | NM_080683.3(PTPN13):c.2986G>A (p.Val996Ile) | not specified [RCV004853901] | likely benign | 4 | 86750805 | 86750805 | Human | | name |
| 597782110 | CV3585067 | single nucleotide variant | NM_080683.3(PTPN13):c.2093C>T (p.Thr698Ile) | not specified [RCV004853903] | uncertain significance | 4 | 86734817 | 86734817 | Human | | name |
| 597782140 | CV3585074 | single nucleotide variant | NM_080683.3(PTPN13):c.1453G>A (p.Glu485Lys) | not specified [RCV004853910] | uncertain significance | 4 | 86722279 | 86722279 | Human | | name |
| 597782161 | CV3585079 | single nucleotide variant | NM_080683.3(PTPN13):c.1856A>G (p.Lys619Arg) | not specified [RCV004853915] | uncertain significance | 4 | 86732764 | 86732764 | Human | | name |
| 597782173 | CV3585082 | single nucleotide variant | NM_080683.3(PTPN13):c.1639A>G (p.Thr547Ala) | not specified [RCV004853918] | uncertain significance | 4 | 86732430 | 86732430 | Human | | name |
| 597782194 | CV3585087 | single nucleotide variant | NM_080683.3(PTPN13):c.1882C>A (p.Pro628Thr) | not specified [RCV004853923] | uncertain significance | 4 | 86734326 | 86734326 | Human | | name |
| 597782198 | CV3585088 | single nucleotide variant | NM_080683.3(PTPN13):c.1054G>T (p.Asp352Tyr) | not specified [RCV004853924] | uncertain significance | 4 | 86701660 | 86701660 | Human | | name |
| 597782202 | CV3585089 | single nucleotide variant | NM_080683.3(PTPN13):c.1122A>G (p.Ile374Met) | not specified [RCV004853925] | uncertain significance | 4 | 86701728 | 86701728 | Human | | name |
| 597782206 | CV3585090 | single nucleotide variant | NM_080683.3(PTPN13):c.2648T>C (p.Ile883Thr) | not specified [RCV004853926] | uncertain significance | 4 | 86745126 | 86745126 | Human | | name |
| 598181566 | CV3904847 | single nucleotide variant | NM_080683.3(PTPN13):c.1999G>A (p.Val667Ile) | not specified [RCV005265241] | uncertain significance | 4 | 86734443 | 86734443 | Human | | name |
| 598181577 | CV3904850 | single nucleotide variant | NM_080683.3(PTPN13):c.2168A>C (p.Tyr723Ser) | not specified [RCV005265244] | uncertain significance | 4 | 86735610 | 86735610 | Human | | name |
| 598181602 | CV3904857 | single nucleotide variant | NM_080683.3(PTPN13):c.1105C>T (p.Pro369Ser) | not specified [RCV005265251] | uncertain significance | 4 | 86701711 | 86701711 | Human | | name |
| 598176324 | CV4008107 | single nucleotide variant | NM_080683.3(PTPN13):c.1097G>A (p.Arg366Gln) | PTPN13-related disorder [RCV005393623] | uncertain significance | 4 | 86701703 | 86701703 | Human | | name , trait |
| 598176331 | CV4008108 | single nucleotide variant | NM_080683.3(PTPN13):c.1261A>G (p.Ile421Val) | PTPN13-related disorder [RCV005393624] | likely benign | 4 | 86716595 | 86716595 | Human | | name , trait |
| 598176335 | CV4008109 | single nucleotide variant | NM_080683.3(PTPN13):c.1795G>T (p.Asp599Tyr) | PTPN13-related disorder [RCV005393625] | likely benign | 4 | 86732703 | 86732703 | Human | | name , trait |
| 598176340 | CV4008110 | single nucleotide variant | NM_080683.3(PTPN13):c.2389G>A (p.Val797Ile) | PTPN13-related disorder [RCV005393626] | uncertain significance | 4 | 86741718 | 86741718 | Human | | name , trait |
| 598176343 | CV4008111 | single nucleotide variant | NM_080683.3(PTPN13):c.2638G>T (p.Ala880Ser) | PTPN13-related disorder [RCV005393627] | uncertain significance | 4 | 86745116 | 86745116 | Human | | name , trait |
| 15189683 | CV698666 | single nucleotide variant | NM_080683.3(PTPN13):c.1499G>C (p.Arg500Pro) | PTPN13-related disorder [RCV005392582]|not provided [RCV000954252] | likely benign | 4 | 86722325 | 86722325 | Human | | name , trait |
| 15152961 | CV709493 | single nucleotide variant | NM_080683.3(PTPN13):c.2594A>G (p.His865Arg) | PTPN13-related disorder [RCV005392595]|not provided [RCV000968455] | likely benign|uncertain significance | 4 | 86745072 | 86745072 | Human | | name , trait |
| 15145785 | CV734753 | single nucleotide variant | NM_080683.3(PTPN13):c.1795G>C (p.Asp599His) | not provided [RCV000900216] | likely benign | 4 | 86732703 | 86732703 | Human | | name |
| 126913622 | CV1037520 | single nucleotide variant | NM_080683.3(PTPN13):c.3160G>A (p.Val1054Ile) | not provided [RCV001357542]|not specified [RCV004034485] | uncertain significance | 4 | 86751118 | 86751118 | Human | | name |
| 126910968 | CV1037521 | single nucleotide variant | NM_080683.3(PTPN13):c.3822G>T (p.Trp1274Cys) | not provided [RCV001354858] | likely benign | 4 | 86762995 | 86762995 | Human | | name |
| 126911033 | CV1037522 | single nucleotide variant | NM_080683.3(PTPN13):c.3953G>C (p.Arg1318Pro) | not provided [RCV001354940] | uncertain significance | 4 | 86763126 | 86763126 | Human | | name |
| 126913976 | CV1037523 | single nucleotide variant | NM_080683.3(PTPN13):c.5003C>A (p.Ala1668Glu) | not provided [RCV001357859] | uncertain significance | 4 | 86771370 | 86771370 | Human | | name |
| 126911590 | CV1037524 | single nucleotide variant | NM_080683.3(PTPN13):c.6614G>A (p.Arg2205Gln) | not provided [RCV001355533] | likely benign | 4 | 86803817 | 86803817 | Human | | name |
| 126912699 | CV1037525 | single nucleotide variant | NM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile) | not provided [RCV001356736] | likely benign | 4 | 86809827 | 86809827 | Human | 1 | name |
| 126912699 | CV1037525 | single nucleotide variant | NM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile) | not provided [RCV001356736] | likely benign | 4 | 86809827 | 86809828 | Human | 1 | name |
| 126911406 | CV1037526 | single nucleotide variant | NM_080683.3(PTPN13):c.7409G>A (p.Arg2470His) | not provided [RCV001355313]|not specified [RCV005262430] | uncertain significance | 4 | 86814502 | 86814502 | Human | | name |
| 9687204 | CV171952 | single nucleotide variant | NM_080683.2(PTPN13):c.4549C>T (p.Arg1517Ter) | Malignant melanoma of skin [RCV000149692] | not provided | 4 | 86769828 | 86769828 | Human | | name |
| 9687465 | CV171953 | single nucleotide variant | NM_080683.2(PTPN13):c.4559A>G (p.Asn1520Ser) | Malignant melanoma of skin [RCV000149693] | not provided | 4 | 86769838 | 86769838 | Human | | name |
| 9687205 | CV171954 | single nucleotide variant | NM_080683.2(PTPN13):c.4566A>G (p.Ile1522Met) | Malignant melanoma of skin [RCV000149694] | not provided | 4 | 86769845 | 86769845 | Human | 4 | name |
| 9687205 | CV171954 | single nucleotide variant | NM_080683.2(PTPN13):c.4566A>G (p.Ile1522Met) | Malignant melanoma of skin [RCV000149694] | not provided | 4 | 86769845 | 86769846 | Human | 4 | name |
| 9687466 | CV171955 | single nucleotide variant | NM_080683.2(PTPN13):c.5246C>T (p.Ser1749Leu) | Malignant melanoma of skin [RCV000149695] | not provided | 4 | 86772855 | 86772855 | Human | | name |
| 156316515 | CV2193064 | single nucleotide variant | NM_080683.3(PTPN13):c.5197G>A (p.Ala1733Thr) | PTPN13-related disorder [RCV005399154]|not specified [RCV004069611] | likely benign|uncertain significance | 4 | 86772806 | 86772806 | Human | | name , trait |
| 156401493 | CV2207294 | single nucleotide variant | NM_080683.3(PTPN13):c.4587C>G (p.Ser1529Arg) | not specified [RCV004088009] | uncertain significance | 4 | 86769866 | 86769866 | Human | | name |
| 155922218 | CV2207439 | single nucleotide variant | NM_080683.3(PTPN13):c.5009T>C (p.Ile1670Thr) | not specified [RCV004089925] | uncertain significance | 4 | 86771376 | 86771376 | Human | | name |
| 156192410 | CV2223181 | single nucleotide variant | NM_080683.3(PTPN13):c.3482T>C (p.Ile1161Thr) | not specified [RCV004104023] | uncertain significance | 4 | 86759002 | 86759002 | Human | | name |
| 156339507 | CV2225097 | single nucleotide variant | NM_080683.3(PTPN13):c.4433G>A (p.Gly1478Asp) | not specified [RCV004094914] | uncertain significance | 4 | 86767920 | 86767920 | Human | | name |
| 156133145 | CV2235382 | single nucleotide variant | NM_080683.3(PTPN13):c.5411C>T (p.Thr1804Ile) | not specified [RCV004109444] | uncertain significance | 4 | 86774434 | 86774434 | Human | | name |
| 155975374 | CV2235863 | single nucleotide variant | NM_080683.3(PTPN13):c.4805C>T (p.Thr1602Ile) | not specified [RCV004111974] | uncertain significance | 4 | 86771172 | 86771172 | Human | | name |
| 155914223 | CV2242648 | single nucleotide variant | NM_080683.3(PTPN13):c.7063A>G (p.Met2355Val) | PTPN13-related disorder [RCV005399170]|not specified [RCV004113703] | uncertain significance | 4 | 86807877 | 86807877 | Human | | name , trait |
| 155924566 | CV2248817 | single nucleotide variant | NM_080683.3(PTPN13):c.4865C>T (p.Ser1622Leu) | not specified [RCV004121966] | uncertain significance | 4 | 86771232 | 86771232 | Human | | name |
| 156304103 | CV2255507 | single nucleotide variant | NM_080683.3(PTPN13):c.4310C>G (p.Thr1437Arg) | not specified [RCV004119941] | uncertain significance | 4 | 86766498 | 86766498 | Human | | name |
| 156000416 | CV2257746 | single nucleotide variant | NM_080683.3(PTPN13):c.4248T>G (p.Asp1416Glu) | not specified [RCV004127816] | uncertain significance | 4 | 86766436 | 86766436 | Human | | name |
| 155997840 | CV2260913 | single nucleotide variant | NM_080683.3(PTPN13):c.6278A>G (p.Lys2093Arg) | not specified [RCV004125802] | uncertain significance | 4 | 86785869 | 86785869 | Human | | name |
| 156249292 | CV2264086 | single nucleotide variant | NM_080683.3(PTPN13):c.4039A>C (p.Thr1347Pro) | not specified [RCV004138096] | uncertain significance | 4 | 86764614 | 86764614 | Human | | name |
| 156130534 | CV2279822 | single nucleotide variant | NM_080683.3(PTPN13):c.6362G>T (p.Gly2121Val) | not specified [RCV004144428] | uncertain significance | 4 | 86796890 | 86796890 | Human | | name |
| 156078221 | CV2281719 | single nucleotide variant | NM_080683.3(PTPN13):c.4165A>C (p.Ser1389Arg) | not specified [RCV004147867] | uncertain significance | 4 | 86765410 | 86765410 | Human | | name |
| 156283684 | CV2291839 | single nucleotide variant | NM_080683.3(PTPN13):c.7277G>A (p.Gly2426Glu) | not specified [RCV004158369] | uncertain significance | 4 | 86809962 | 86809962 | Human | | name |
| 156154140 | CV2303883 | single nucleotide variant | NM_080683.3(PTPN13):c.5299T>C (p.Trp1767Arg) | not specified [RCV004168167] | uncertain significance | 4 | 86772908 | 86772908 | Human | | name |
| 155912571 | CV2308899 | single nucleotide variant | NM_080683.3(PTPN13):c.6476A>G (p.Glu2159Gly) | not specified [RCV004169191] | uncertain significance | 4 | 86799175 | 86799175 | Human | | name |
| 156186325 | CV2324722 | single nucleotide variant | NM_080683.3(PTPN13):c.3435A>G (p.Ile1145Met) | not specified [RCV004172961] | uncertain significance | 4 | 86758955 | 86758955 | Human | | name |
| 156073017 | CV2325392 | single nucleotide variant | NM_080683.3(PTPN13):c.3293A>C (p.Lys1098Thr) | not specified [RCV004177760] | uncertain significance | 4 | 86758329 | 86758329 | Human | | name |
| 155930755 | CV2362311 | single nucleotide variant | NM_080683.3(PTPN13):c.5303C>T (p.Thr1768Ile) | not specified [RCV004212946] | uncertain significance | 4 | 86772912 | 86772912 | Human | | name |
| 156151844 | CV2369208 | single nucleotide variant | NM_080683.3(PTPN13):c.5444A>G (p.His1815Arg) | not specified [RCV004208127] | uncertain significance | 4 | 86774467 | 86774467 | Human | | name |
| 156384928 | CV2371648 | single nucleotide variant | NM_080683.3(PTPN13):c.5326A>G (p.Asn1776Asp) | not specified [RCV004216888] | uncertain significance | 4 | 86772935 | 86772935 | Human | | name |
| 156084861 | CV2390458 | single nucleotide variant | NM_080683.3(PTPN13):c.5627T>C (p.Met1876Thr) | not specified [RCV004239000] | uncertain significance | 4 | 86775289 | 86775289 | Human | | name |
| 156223297 | CV2394892 | single nucleotide variant | NM_080683.3(PTPN13):c.7185G>A (p.Met2395Ile) | not specified [RCV004234548] | uncertain significance | 4 | 86809870 | 86809870 | Human | | name |
| 329376828 | CV2428559 | single nucleotide variant | NM_080683.3(PTPN13):c.4781C>T (p.Pro1594Leu) | not specified [RCV004253343] | uncertain significance | 4 | 86770177 | 86770177 | Human | | name |
| 329375541 | CV2440981 | single nucleotide variant | NM_080683.3(PTPN13):c.4030T>A (p.Ser1344Thr) | not specified [RCV004261360] | uncertain significance | 4 | 86764605 | 86764605 | Human | | name |
| 329393357 | CV2449676 | single nucleotide variant | NM_080683.3(PTPN13):c.3083C>T (p.Ala1028Val) | not specified [RCV004268584] | uncertain significance | 4 | 86751041 | 86751041 | Human | | name |
| 329360589 | CV2458862 | single nucleotide variant | NM_080683.3(PTPN13):c.4673A>G (p.Asn1558Ser) | not specified [RCV004270276] | uncertain significance | 4 | 86769952 | 86769952 | Human | | name |
| 329362363 | CV2463844 | single nucleotide variant | NM_080683.3(PTPN13):c.7066A>G (p.Thr2356Ala) | not specified [RCV004279925] | uncertain significance | 4 | 86807880 | 86807880 | Human | | name |
| 401736175 | CV2672842 | single nucleotide variant | NM_080683.3(PTPN13):c.4252G>A (p.Val1418Ile) | not specified [RCV004281617] | uncertain significance | 4 | 86766440 | 86766440 | Human | | name |
| 401738498 | CV2676305 | single nucleotide variant | NM_080683.3(PTPN13):c.5396T>C (p.Leu1799Pro) | not specified [RCV004286340] | uncertain significance | 4 | 86774419 | 86774419 | Human | | name |
| 401752879 | CV2682967 | single nucleotide variant | NM_080683.3(PTPN13):c.7054G>A (p.Val2352Met) | not specified [RCV004283756] | uncertain significance | 4 | 86807868 | 86807868 | Human | | name |
| 401727119 | CV2684477 | single nucleotide variant | NM_080683.3(PTPN13):c.6832G>A (p.Val2278Ile) | not specified [RCV004291550] | uncertain significance | 4 | 86807646 | 86807646 | Human | | name |
| 401781887 | CV2689982 | single nucleotide variant | NM_080683.3(PTPN13):c.6023C>T (p.Thr2008Met) | not specified [RCV004299866] | uncertain significance | 4 | 86782261 | 86782261 | Human | | name |
| 401749231 | CV2694593 | single nucleotide variant | NM_080683.3(PTPN13):c.4925A>C (p.Gln1642Pro) | not specified [RCV004298713] | uncertain significance | 4 | 86771292 | 86771292 | Human | | name |
| 401718178 | CV2700203 | single nucleotide variant | NM_080683.3(PTPN13):c.6491A>G (p.Glu2164Gly) | not specified [RCV004309059] | uncertain significance | 4 | 86799190 | 86799190 | Human | | name |
| 401735490 | CV2702788 | single nucleotide variant | NM_080683.3(PTPN13):c.7451T>C (p.Leu2484Pro) | not specified [RCV004319355] | uncertain significance | 4 | 86814544 | 86814544 | Human | | name |
| 401772971 | CV2709051 | single nucleotide variant | NM_080683.3(PTPN13):c.4518A>T (p.Lys1506Asn) | not specified [RCV004314396] | uncertain significance | 4 | 86769797 | 86769797 | Human | | name |
| 401761806 | CV2713903 | single nucleotide variant | NM_080683.3(PTPN13):c.3665G>C (p.Arg1222Pro) | not specified [RCV004315335] | uncertain significance | 4 | 86762838 | 86762838 | Human | | name |
| 401765600 | CV2717775 | single nucleotide variant | NM_080683.3(PTPN13):c.5008A>G (p.Ile1670Val) | not specified [RCV004321760] | uncertain significance | 4 | 86771375 | 86771375 | Human | | name |
| 401772912 | CV2720407 | single nucleotide variant | NM_080683.3(PTPN13):c.6664G>A (p.Glu2222Lys) | not specified [RCV004325710] | uncertain significance | 4 | 86805288 | 86805288 | Human | | name |
| 401767488 | CV2729697 | single nucleotide variant | NM_080683.3(PTPN13):c.3787G>A (p.Gly1263Ser) | not specified [RCV004331954] | uncertain significance | 4 | 86762960 | 86762960 | Human | | name |
| 401877643 | CV2761242 | single nucleotide variant | NM_080683.3(PTPN13):c.6087A>G (p.Ile2029Met) | not specified [RCV004341119] | likely benign | 4 | 86784527 | 86784527 | Human | | name |
| 401877216 | CV2764543 | single nucleotide variant | NM_080683.3(PTPN13):c.6872G>A (p.Gly2291Glu) | not specified [RCV004339098] | uncertain significance | 4 | 86807686 | 86807686 | Human | | name |
| 401895807 | CV2775699 | single nucleotide variant | NM_080683.3(PTPN13):c.4027T>C (p.Ser1343Pro) | not specified [RCV004350832] | uncertain significance | 4 | 86764602 | 86764602 | Human | | name |
| 401872013 | CV2775818 | single nucleotide variant | NM_080683.3(PTPN13):c.3878A>G (p.Lys1293Arg) | not specified [RCV004344857] | uncertain significance | 4 | 86763051 | 86763051 | Human | | name |
| 401878188 | CV2777797 | single nucleotide variant | NM_080683.3(PTPN13):c.3225T>G (p.Asp1075Glu) | not specified [RCV004345625] | uncertain significance | 4 | 86758261 | 86758261 | Human | | name |
| 401879071 | CV2778137 | single nucleotide variant | NM_080683.3(PTPN13):c.4361C>T (p.Ser1454Phe) | not specified [RCV004348076] | uncertain significance | 4 | 86767848 | 86767848 | Human | | name |
| 401877612 | CV2779883 | single nucleotide variant | NM_080683.3(PTPN13):c.4189G>C (p.Val1397Leu) | not specified [RCV004353498] | uncertain significance | 4 | 86765434 | 86765434 | Human | | name |
| 405688919 | CV3318327 | single nucleotide variant | NM_080683.3(PTPN13):c.3342G>A (p.Met1114Ile) | not specified [RCV004444960] | uncertain significance | 4 | 86758706 | 86758706 | Human | | name |
| 405688925 | CV3318328 | single nucleotide variant | NM_080683.3(PTPN13):c.3419C>T (p.Pro1140Leu) | not specified [RCV004444961] | uncertain significance | 4 | 86758783 | 86758783 | Human | | name |
| 405688930 | CV3318329 | single nucleotide variant | NM_080683.3(PTPN13):c.3565C>T (p.Pro1189Ser) | not specified [RCV004444962] | uncertain significance | 4 | 86762738 | 86762738 | Human | | name |
| 405688934 | CV3318330 | single nucleotide variant | NM_080683.3(PTPN13):c.3811G>A (p.Asp1271Asn) | not specified [RCV004444963] | uncertain significance | 4 | 86762984 | 86762984 | Human | | name |
| 405688938 | CV3318331 | single nucleotide variant | NM_080683.3(PTPN13):c.4169T>G (p.Val1390Gly) | not specified [RCV004444964] | uncertain significance | 4 | 86765414 | 86765414 | Human | | name |
| 405688942 | CV3318332 | single nucleotide variant | NM_080683.3(PTPN13):c.4285G>C (p.Ala1429Pro) | not specified [RCV004444965] | uncertain significance | 4 | 86766473 | 86766473 | Human | | name |
| 405688953 | CV3318334 | single nucleotide variant | NM_080683.3(PTPN13):c.4462G>A (p.Val1488Ile) | not specified [RCV004444967] | uncertain significance | 4 | 86767949 | 86767949 | Human | | name |
| 405688958 | CV3318335 | single nucleotide variant | NM_080683.3(PTPN13):c.4631A>C (p.Glu1544Ala) | not specified [RCV004444968] | uncertain significance | 4 | 86769910 | 86769910 | Human | | name |
| 405688968 | CV3318337 | single nucleotide variant | NM_080683.3(PTPN13):c.5239T>G (p.Ser1747Ala) | not specified [RCV004444970] | uncertain significance | 4 | 86772848 | 86772848 | Human | | name |
| 405688971 | CV3318338 | single nucleotide variant | NM_080683.3(PTPN13):c.5240C>G (p.Ser1747Cys) | not specified [RCV004444971] | uncertain significance | 4 | 86772849 | 86772849 | Human | | name |
| 405688976 | CV3318339 | single nucleotide variant | NM_080683.3(PTPN13):c.5375T>C (p.Ile1792Thr) | not specified [RCV004444972] | uncertain significance | 4 | 86774398 | 86774398 | Human | | name |
| 405688981 | CV3318340 | single nucleotide variant | NM_080683.3(PTPN13):c.5431G>T (p.Gly1811Cys) | not specified [RCV004444973] | uncertain significance | 4 | 86774454 | 86774454 | Human | | name |
| 405688986 | CV3318341 | single nucleotide variant | NM_080683.3(PTPN13):c.5528C>T (p.Thr1843Ile) | not specified [RCV004444974] | uncertain significance | 4 | 86775190 | 86775190 | Human | | name |
| 405688998 | CV3318344 | single nucleotide variant | NM_080683.3(PTPN13):c.5752G>A (p.Val1918Ile) | not specified [RCV004444977] | likely benign | 4 | 86775513 | 86775513 | Human | | name |
| 405689009 | CV3318346 | single nucleotide variant | NM_080683.3(PTPN13):c.6120A>C (p.Glu2040Asp) | not specified [RCV004444979] | uncertain significance | 4 | 86785232 | 86785232 | Human | | name |
| 405689014 | CV3318347 | single nucleotide variant | NM_080683.3(PTPN13):c.6155C>G (p.Ser2052Cys) | not specified [RCV004444980] | uncertain significance | 4 | 86785267 | 86785267 | Human | | name |
| 405689017 | CV3318348 | single nucleotide variant | NM_080683.3(PTPN13):c.6352A>G (p.Lys2118Glu) | not specified [RCV004444981] | uncertain significance | 4 | 86796880 | 86796880 | Human | | name |
| 405689022 | CV3318349 | single nucleotide variant | NM_080683.3(PTPN13):c.6365G>A (p.Cys2122Tyr) | not specified [RCV004444982] | uncertain significance | 4 | 86796893 | 86796893 | Human | | name |
| 405689026 | CV3318350 | single nucleotide variant | NM_080683.3(PTPN13):c.6479G>C (p.Arg2160Thr) | not specified [RCV004444983] | likely benign | 4 | 86799178 | 86799178 | Human | | name |
| 405689031 | CV3318351 | single nucleotide variant | NM_080683.3(PTPN13):c.6541C>G (p.Leu2181Val) | not specified [RCV004444984] | uncertain significance | 4 | 86803744 | 86803744 | Human | | name |
| 405689037 | CV3318352 | single nucleotide variant | NM_080683.3(PTPN13):c.6628C>A (p.Gln2210Lys) | not specified [RCV004444985] | uncertain significance | 4 | 86803831 | 86803831 | Human | | name |
| 405689040 | CV3318353 | single nucleotide variant | NM_080683.3(PTPN13):c.6907A>G (p.Thr2303Ala) | not specified [RCV004444986] | uncertain significance | 4 | 86807721 | 86807721 | Human | | name |
| 405689046 | CV3318354 | single nucleotide variant | NM_080683.3(PTPN13):c.6991A>G (p.Thr2331Ala) | not specified [RCV004444987] | uncertain significance | 4 | 86807805 | 86807805 | Human | | name |
| 405689051 | CV3318355 | single nucleotide variant | NM_080683.3(PTPN13):c.7136A>G (p.His2379Arg) | not specified [RCV004444988] | uncertain significance | 4 | 86809821 | 86809821 | Human | | name |
| 405689057 | CV3318356 | single nucleotide variant | NM_080683.3(PTPN13):c.7168A>G (p.Thr2390Ala) | not specified [RCV004444989] | uncertain significance | 4 | 86809853 | 86809853 | Human | | name |
| 405689061 | CV3318357 | single nucleotide variant | NM_080683.3(PTPN13):c.7240C>T (p.Arg2414Cys) | not specified [RCV004444990] | uncertain significance | 4 | 86809925 | 86809925 | Human | | name |
| 405689066 | CV3318358 | single nucleotide variant | NM_080683.3(PTPN13):c.7396T>G (p.Tyr2466Asp) | not specified [RCV004444991] | uncertain significance | 4 | 86814489 | 86814489 | Human | | name |
| 405869654 | CV3397883 | single nucleotide variant | NM_080683.3(PTPN13):c.4184T>G (p.Ile1395Ser) | Meniere disease [RCV004573526] | uncertain significance | 4 | 86765429 | 86765429 | Human | 1 | name |
| 405869655 | CV3397884 | single nucleotide variant | NM_080683.3(PTPN13):c.7360G>A (p.Glu2454Lys) | Meniere disease [RCV004573527] | uncertain significance | 4 | 86811106 | 86811106 | Human | 1 | name |
| 407472487 | CV3468375 | single nucleotide variant | NM_080683.3(PTPN13):c.6635T>C (p.Ile2212Thr) | not specified [RCV004662513] | uncertain significance | 4 | 86803838 | 86803838 | Human | | name |
| 407472492 | CV3468376 | single nucleotide variant | NM_080683.3(PTPN13):c.4309A>G (p.Thr1437Ala) | not specified [RCV004662514] | uncertain significance | 4 | 86766497 | 86766497 | Human | | name |
| 407491410 | CV3468380 | single nucleotide variant | NM_080683.3(PTPN13):c.6188A>G (p.Asp2063Gly) | not specified [RCV004666887] | uncertain significance | 4 | 86785300 | 86785300 | Human | | name |
| 407472508 | CV3468381 | single nucleotide variant | NM_080683.3(PTPN13):c.5435G>A (p.Cys1812Tyr) | not specified [RCV004662517] | uncertain significance | 4 | 86774458 | 86774458 | Human | | name |
| 407472513 | CV3468382 | single nucleotide variant | NM_080683.3(PTPN13):c.3344G>A (p.Gly1115Glu) | not specified [RCV004662518] | uncertain significance | 4 | 86758708 | 86758708 | Human | | name |
| 407472518 | CV3468383 | single nucleotide variant | NM_080683.3(PTPN13):c.6116A>G (p.Lys2039Arg) | not specified [RCV004662519] | uncertain significance | 4 | 86784556 | 86784556 | Human | | name |
| 407472525 | CV3468385 | single nucleotide variant | NM_080683.3(PTPN13):c.5379A>C (p.Lys1793Asn) | not specified [RCV004662521] | uncertain significance | 4 | 86774402 | 86774402 | Human | | name |
| 407472529 | CV3468386 | single nucleotide variant | NM_080683.3(PTPN13):c.3788G>A (p.Gly1263Asp) | not specified [RCV004662522] | uncertain significance | 4 | 86762961 | 86762961 | Human | | name |
| 407472533 | CV3468387 | single nucleotide variant | NM_080683.3(PTPN13):c.6052T>A (p.Ser2018Thr) | not specified [RCV004662523] | uncertain significance | 4 | 86784492 | 86784492 | Human | | name |
| 407472538 | CV3468388 | single nucleotide variant | NM_080683.3(PTPN13):c.5732G>C (p.Ser1911Thr) | not specified [RCV004662524] | uncertain significance | 4 | 86775493 | 86775493 | Human | | name |
| 407472550 | CV3468392 | single nucleotide variant | NM_080683.3(PTPN13):c.4268G>A (p.Gly1423Glu) | not specified [RCV004662527] | uncertain significance | 4 | 86766456 | 86766456 | Human | | name |
| 407472559 | CV3468395 | single nucleotide variant | NM_080683.3(PTPN13):c.5636A>G (p.His1879Arg) | not specified [RCV004662529] | uncertain significance | 4 | 86775298 | 86775298 | Human | | name |
| 407472563 | CV3468396 | single nucleotide variant | NM_080683.3(PTPN13):c.3331G>A (p.Gly1111Arg) | not specified [RCV004662530] | uncertain significance | 4 | 86758695 | 86758695 | Human | | name |
| 407491423 | CV3468397 | single nucleotide variant | NM_080683.3(PTPN13):c.6713G>C (p.Arg2238Thr) | not specified [RCV004666890] | uncertain significance | 4 | 86805337 | 86805337 | Human | | name |
| 408368189 | CV3518116 | single nucleotide variant | NM_080683.3(PTPN13):c.4843A>C (p.Ser1615Arg) | Congenital long QT syndrome [RCV004733998] | uncertain significance | 4 | 86771210 | 86771210 | Human | 1 | name |
| 597782076 | CV3585059 | single nucleotide variant | NM_080683.3(PTPN13):c.5267A>G (p.His1756Arg) | not specified [RCV004853895] | uncertain significance | 4 | 86772876 | 86772876 | Human | | name |
| 597782080 | CV3585060 | single nucleotide variant | NM_080683.3(PTPN13):c.6946A>G (p.Lys2316Glu) | not specified [RCV004853896] | uncertain significance | 4 | 86807760 | 86807760 | Human | | name |
| 597782088 | CV3585062 | single nucleotide variant | NM_080683.3(PTPN13):c.5189C>T (p.Pro1730Leu) | not specified [RCV004853898] | likely benign | 4 | 86772798 | 86772798 | Human | | name |
| 597782092 | CV3585063 | single nucleotide variant | NM_080683.3(PTPN13):c.6362G>C (p.Gly2121Ala) | not specified [RCV004853899] | uncertain significance | 4 | 86796890 | 86796890 | Human | | name |
| 597782096 | CV3585064 | single nucleotide variant | NM_080683.3(PTPN13):c.3653A>T (p.His1218Leu) | not specified [RCV004853900] | uncertain significance | 4 | 86762826 | 86762826 | Human | | name |
| 597782114 | CV3585068 | single nucleotide variant | NM_080683.3(PTPN13):c.5534T>G (p.Met1845Arg) | not specified [RCV004853904] | uncertain significance | 4 | 86775196 | 86775196 | Human | | name |
| 597782118 | CV3585069 | single nucleotide variant | NM_080683.3(PTPN13):c.6257G>A (p.Gly2086Asp) | not specified [RCV004853905] | uncertain significance | 4 | 86785848 | 86785848 | Human | | name |
| 597782130 | CV3585072 | single nucleotide variant | NM_080683.3(PTPN13):c.3394G>A (p.Ala1132Thr) | not specified [RCV004853908] | uncertain significance | 4 | 86758758 | 86758758 | Human | | name |
| 597782136 | CV3585073 | single nucleotide variant | NM_080683.3(PTPN13):c.5329C>A (p.His1777Asn) | not specified [RCV004853909] | uncertain significance | 4 | 86772938 | 86772938 | Human | | name |
| 597782148 | CV3585076 | single nucleotide variant | NM_080683.3(PTPN13):c.3988A>G (p.Ser1330Gly) | not specified [RCV004853912] | uncertain significance | 4 | 86763161 | 86763161 | Human | | name |
| 597782152 | CV3585077 | single nucleotide variant | NM_080683.3(PTPN13):c.5899C>G (p.Leu1967Val) | not specified [RCV004853913] | uncertain significance | 4 | 86780409 | 86780409 | Human | | name |
| 597782156 | CV3585078 | single nucleotide variant | NM_080683.3(PTPN13):c.6625G>A (p.Asp2209Asn) | not specified [RCV004853914] | uncertain significance | 4 | 86803828 | 86803828 | Human | | name |
| 597782165 | CV3585080 | single nucleotide variant | NM_080683.3(PTPN13):c.6605G>A (p.Arg2202Gln) | not specified [RCV004853916] | uncertain significance | 4 | 86803808 | 86803808 | Human | | name |
| 597782169 | CV3585081 | single nucleotide variant | NM_080683.3(PTPN13):c.3218A>C (p.Glu1073Ala) | not specified [RCV004853917] | uncertain significance | 4 | 86753060 | 86753060 | Human | | name |
| 597782177 | CV3585083 | single nucleotide variant | NM_080683.3(PTPN13):c.6680A>C (p.Asp2227Ala) | not specified [RCV004853919] | uncertain significance | 4 | 86805304 | 86805304 | Human | | name |
| 597782181 | CV3585084 | single nucleotide variant | NM_080683.3(PTPN13):c.7312G>A (p.Asp2438Asn) | not specified [RCV004853920] | uncertain significance | 4 | 86811058 | 86811058 | Human | | name |
| 597782186 | CV3585085 | single nucleotide variant | NM_080683.3(PTPN13):c.5960A>G (p.Asn1987Ser) | not specified [RCV004853921] | uncertain significance | 4 | 86780470 | 86780470 | Human | | name |
| 598181520 | CV3904838 | single nucleotide variant | NM_080683.3(PTPN13):c.4142G>A (p.Ser1381Asn) | not specified [RCV005265232] | uncertain significance | 4 | 86764717 | 86764717 | Human | | name |
| 598181526 | CV3904839 | single nucleotide variant | NM_080683.3(PTPN13):c.3145C>T (p.Pro1049Ser) | not specified [RCV005265233] | uncertain significance | 4 | 86751103 | 86751103 | Human | | name |
| 598181532 | CV3904840 | single nucleotide variant | NM_080683.3(PTPN13):c.3363A>G (p.Ile1121Met) | not specified [RCV005265234] | uncertain significance | 4 | 86758727 | 86758727 | Human | | name |
| 598181542 | CV3904842 | single nucleotide variant | NM_080683.3(PTPN13):c.4796C>T (p.Ala1599Val) | not specified [RCV005265236] | uncertain significance | 4 | 86770192 | 86770192 | Human | | name |
| 598181546 | CV3904843 | single nucleotide variant | NM_080683.3(PTPN13):c.4331T>C (p.Val1444Ala) | not specified [RCV005265237] | uncertain significance | 4 | 86767818 | 86767818 | Human | | name |
| 598181553 | CV3904844 | single nucleotide variant | NM_080683.3(PTPN13):c.7235T>C (p.Ile2412Thr) | not specified [RCV005265238] | uncertain significance | 4 | 86809920 | 86809920 | Human | | name |
| 598181558 | CV3904845 | single nucleotide variant | NM_080683.3(PTPN13):c.5639T>C (p.Leu1880Ser) | not specified [RCV005265239] | uncertain significance | 4 | 86775301 | 86775301 | Human | | name |
| 598181569 | CV3904848 | single nucleotide variant | NM_080683.3(PTPN13):c.3275C>T (p.Thr1092Ile) | not specified [RCV005265242] | uncertain significance | 4 | 86758311 | 86758311 | Human | | name |
| 598181573 | CV3904849 | single nucleotide variant | NM_080683.3(PTPN13):c.7411C>T (p.Leu2471Phe) | not specified [RCV005265243] | uncertain significance | 4 | 86814504 | 86814504 | Human | | name |
| 598181590 | CV3904854 | single nucleotide variant | NM_080683.3(PTPN13):c.5402T>C (p.Phe1801Ser) | not specified [RCV005265248] | uncertain significance | 4 | 86774425 | 86774425 | Human | | name |
| 598181595 | CV3904855 | single nucleotide variant | NM_080683.3(PTPN13):c.6298G>C (p.Glu2100Gln) | not specified [RCV005265249] | uncertain significance | 4 | 86785889 | 86785889 | Human | | name |
| 598181599 | CV3904856 | single nucleotide variant | NM_080683.3(PTPN13):c.3701G>T (p.Gly1234Val) | not specified [RCV005265250] | uncertain significance | 4 | 86762874 | 86762874 | Human | | name |
| 598181610 | CV3904859 | single nucleotide variant | NM_080683.3(PTPN13):c.4864T>C (p.Ser1622Pro) | not specified [RCV005265253] | uncertain significance | 4 | 86771231 | 86771231 | Human | | name |
| 598181614 | CV3904860 | single nucleotide variant | NM_080683.3(PTPN13):c.5488C>T (p.Pro1830Ser) | not specified [RCV005265254] | uncertain significance | 4 | 86774511 | 86774511 | Human | | name |
| 598181618 | CV3904861 | single nucleotide variant | NM_080683.3(PTPN13):c.6365G>T (p.Cys2122Phe) | not specified [RCV005265255] | uncertain significance | 4 | 86796893 | 86796893 | Human | | name |
| 598176355 | CV4008113 | single nucleotide variant | NM_080683.3(PTPN13):c.3563C>T (p.Thr1188Ile) | PTPN13-related disorder [RCV005393629] | uncertain significance | 4 | 86762736 | 86762736 | Human | | name , trait |
| 598176360 | CV4008114 | single nucleotide variant | NM_080683.3(PTPN13):c.3586A>G (p.Met1196Val) | PTPN13-related disorder [RCV005393630] | uncertain significance | 4 | 86762759 | 86762759 | Human | | name , trait |
| 598176366 | CV4008115 | single nucleotide variant | NM_080683.3(PTPN13):c.3785A>G (p.Asn1262Ser) | PTPN13-related disorder [RCV005393631] | uncertain significance | 4 | 86762958 | 86762958 | Human | | name , trait |
| 598176369 | CV4008116 | single nucleotide variant | NM_080683.3(PTPN13):c.3808G>A (p.Gly1270Ser) | PTPN13-related disorder [RCV005393632] | uncertain significance | 4 | 86762981 | 86762981 | Human | | name , trait |
| 598176374 | CV4008117 | single nucleotide variant | NM_080683.3(PTPN13):c.5866C>T (p.Pro1956Ser) | PTPN13-related disorder [RCV005393633] | uncertain significance | 4 | 86775627 | 86775627 | Human | | name , trait |
| 15152969 | CV709494 | single nucleotide variant | NM_080683.3(PTPN13):c.3124G>T (p.Asp1042Tyr) | not provided [RCV000968456] | benign | 4 | 86751082 | 86751082 | Human | | name |
| 15111140 | CV709495 | single nucleotide variant | NM_080683.3(PTPN13):c.3188G>A (p.Gly1063Glu) | not provided [RCV000961044] | benign | 4 | 86753030 | 86753030 | Human | | name |
| 15176169 | CV721101 | single nucleotide variant | NM_080683.3(PTPN13):c.5230T>C (p.Ser1744Pro) | not provided [RCV000884526] | benign | 4 | 86772839 | 86772839 | Human | | name |
| 8631312 | CV86473 | single nucleotide variant | NM_080685.2(PTPN13):c.7400A>T (p.Gln2467Leu) | Malignant melanoma [RCV000066564]|Malignant melanoma of skin [RCV000149696] | not provided | 4 | 86814478 | 86814478 | Human | | name |