ClinVar Miner

List of variants in gene PTPN11 reported as likely benign for RASopathy

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.*1006del rs146940557 0.05739
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.932T>C (p.Met311Thr) rs201226824 0.00028
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002834.5(PTPN11):c.1575A>G (p.Leu525=) rs143801479 0.00009
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_002834.5(PTPN11):c.756+9T>C rs773222704 0.00009
NM_002834.5(PTPN11):c.1362G>A (p.Pro454=) rs771967829 0.00008
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=) rs139188627 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.132C>T (p.Ser44=) rs397507502 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.426C>T (p.Ser142=) rs199498784 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_002834.5(PTPN11):c.853+17C>T rs746692191 0.00006
NM_002834.5(PTPN11):c.854-18G>C rs753683974 0.00006
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002834.5(PTPN11):c.1143C>T (p.Gly381=) rs781677115 0.00004
NM_002834.5(PTPN11):c.1278C>T (p.His426=) rs886038519 0.00004
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=) rs397516798 0.00004
NM_002834.5(PTPN11):c.332+18G>T rs1015260760 0.00004
NM_002834.5(PTPN11):c.854-19T>G rs751780145 0.00004
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.1092+9C>T rs374768093 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.138-4T>G rs959868124 0.00003
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=) rs587781130 0.00003
NM_002834.5(PTPN11):c.540C>T (p.Asp180=) rs753269427 0.00003
NM_002834.5(PTPN11):c.879C>T (p.His293=) rs117730996 0.00003
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=) rs727504377 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002834.5(PTPN11):c.768A>G (p.Gln256=) rs775232682 0.00002
NM_002834.5(PTPN11):c.793C>A (p.Arg265=) rs766531368 0.00002
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1023T>C (p.Phe341=) rs762516252 0.00001
NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=) rs727505180 0.00001
NM_002834.5(PTPN11):c.1173C>T (p.Ser391=) rs770730416 0.00001
NM_002834.5(PTPN11):c.1176C>T (p.Ala392=) rs759533871 0.00001
NM_002834.5(PTPN11):c.1218T>C (p.Val406=) rs1402095646 0.00001
NM_002834.5(PTPN11):c.1225-9C>T rs377257792 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1311C>T (p.Asp437=) rs757362412 0.00001
NM_002834.5(PTPN11):c.1380-14C>G rs193922657 0.00001
NM_002834.5(PTPN11):c.1380-5C>T rs765455455 0.00001
NM_002834.5(PTPN11):c.1398A>G (p.Thr466=) rs1271133312 0.00001
NM_002834.5(PTPN11):c.1404G>A (p.Thr468=) rs587781130 0.00001
NM_002834.5(PTPN11):c.1447+10C>T rs1435448604 0.00001
NM_002834.5(PTPN11):c.1447+16G>T rs375109762 0.00001
NM_002834.5(PTPN11):c.1448-4G>A rs574215778 0.00001
NM_002834.5(PTPN11):c.1467C>T (p.Asp489=) rs539373294 0.00001
NM_002834.5(PTPN11):c.15-19C>A rs779587904 0.00001
NM_002834.5(PTPN11):c.1521A>G (p.Thr507=) rs374285143 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.1600-11C>G rs1472156150 0.00001
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.1659G>A (p.Thr553=) rs1381707337 0.00001
NM_002834.5(PTPN11):c.1713-5T>A rs876657964 0.00001
NM_002834.5(PTPN11):c.376T>C (p.Leu126=) rs146497890 0.00001
NM_002834.5(PTPN11):c.498A>G (p.Lys166=) rs1007593261 0.00001
NM_002834.5(PTPN11):c.526-9T>C rs1284214136 0.00001
NM_002834.5(PTPN11):c.537C>T (p.Tyr179=) rs141015445 0.00001
NM_002834.5(PTPN11):c.643-7C>T rs1555268066 0.00001
NM_002834.5(PTPN11):c.643-9C>T rs750520685 0.00001
NM_002834.5(PTPN11):c.66A>G (p.Thr22=) rs397516808 0.00001
NM_002834.5(PTPN11):c.757-5T>C rs1442154422 0.00001
NM_002834.5(PTPN11):c.854-20G>A rs756424880 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002834.5(PTPN11):c.1008C>T (p.Asn336=) rs2038532919
NM_002834.5(PTPN11):c.1017T>C (p.Asn339=)
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1071G>C (p.Thr357=) rs779125362
NM_002834.5(PTPN11):c.1086A>G (p.Arg362=)
NM_002834.5(PTPN11):c.108T>C (p.Ser36=)
NM_002834.5(PTPN11):c.1092+16T>C
NM_002834.5(PTPN11):c.1092+18C>A
NM_002834.5(PTPN11):c.1093-12G>T rs2038604762
NM_002834.5(PTPN11):c.1098A>G (p.Lys366=) rs2135906673
NM_002834.5(PTPN11):c.10C>A (p.Arg4=) rs886041517
NM_002834.5(PTPN11):c.1104C>T (p.Val368=)
NM_002834.5(PTPN11):c.1129C>T (p.Leu377=)
NM_002834.5(PTPN11):c.117A>C (p.Gly39=) rs779813529
NM_002834.5(PTPN11):c.1191G>T (p.Thr397=) rs775571445
NM_002834.5(PTPN11):c.1224+14C>T
NM_002834.5(PTPN11):c.1224+7A>G
NM_002834.5(PTPN11):c.1224+7A>T rs1222805966
NM_002834.5(PTPN11):c.1225-7A>C
NM_002834.5(PTPN11):c.1225-7A>G rs727504397
NM_002834.5(PTPN11):c.1225-9C>G
NM_002834.5(PTPN11):c.1242G>A (p.Thr414=)
NM_002834.5(PTPN11):c.1242G>C (p.Thr414=) rs552394167
NM_002834.5(PTPN11):c.1242G>T (p.Thr414=) rs552394167
NM_002834.5(PTPN11):c.1266C>G (p.Thr422=) rs759848374
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.5(PTPN11):c.1290C>T (p.Ser430=)
NM_002834.5(PTPN11):c.1302C>A (p.Gly434=)
NM_002834.5(PTPN11):c.1320G>A (p.Glu440=)
NM_002834.5(PTPN11):c.1329C>T (p.His443=)
NM_002834.5(PTPN11):c.1338G>A (p.Gln446=)
NM_002834.5(PTPN11):c.1356A>G (p.Ala452=) rs1391230822
NM_002834.5(PTPN11):c.1362G>T (p.Pro454=)
NM_002834.5(PTPN11):c.1379+18C>T
NM_002834.5(PTPN11):c.1379+9T>A
NM_002834.5(PTPN11):c.1380-11T>C
NM_002834.5(PTPN11):c.1380-4G>T rs750640531
NM_002834.5(PTPN11):c.14+12C>G
NM_002834.5(PTPN11):c.14+12C>T
NM_002834.5(PTPN11):c.14+15G>A
NM_002834.5(PTPN11):c.14+15_14+31dup
NM_002834.5(PTPN11):c.14+25_14+41del rs772900183
NM_002834.5(PTPN11):c.14+8G>C
NM_002834.5(PTPN11):c.14+9C>A rs2135817527
NM_002834.5(PTPN11):c.14+9C>T
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1410T>C (p.Ile470=)
NM_002834.5(PTPN11):c.1425T>C (p.Leu475=) rs746719818
NM_002834.5(PTPN11):c.1447+17G>A
NM_002834.5(PTPN11):c.1447+20del
NM_002834.5(PTPN11):c.1448-13G>A
NM_002834.5(PTPN11):c.1448-15_1448-13del rs775920290
NM_002834.5(PTPN11):c.1448-16G>A
NM_002834.5(PTPN11):c.1448-17T>C
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.1448-7T>G
NM_002834.5(PTPN11):c.1458C>T (p.Cys486=)
NM_002834.5(PTPN11):c.1461T>C (p.Asp487=)
NM_002834.5(PTPN11):c.1479C>T (p.Thr493=)
NM_002834.5(PTPN11):c.15-15G>A
NM_002834.5(PTPN11):c.15-15_15-12del
NM_002834.5(PTPN11):c.15-16T>C rs1049293041
NM_002834.5(PTPN11):c.15-20A>G rs2135856230
NM_002834.5(PTPN11):c.1515C>T (p.Val505=)
NM_002834.5(PTPN11):c.1530G>A (p.Gln510=)
NM_002834.5(PTPN11):c.1533C>T (p.Tyr511=)
NM_002834.5(PTPN11):c.1578G>A (p.Gln526=)
NM_002834.5(PTPN11):c.1599+17T>A rs952059247
NM_002834.5(PTPN11):c.1599+17T>C
NM_002834.5(PTPN11):c.1599+18G>A rs2135916843
NM_002834.5(PTPN11):c.1599+20C>A rs2135916858
NM_002834.5(PTPN11):c.1599+7G>C
NM_002834.5(PTPN11):c.1599+7G>T
NM_002834.5(PTPN11):c.1599+9C>T
NM_002834.5(PTPN11):c.1600-14C>T rs568632219
NM_002834.5(PTPN11):c.1600-17A>G
NM_002834.5(PTPN11):c.1600-8A>T rs2038881415
NM_002834.5(PTPN11):c.1609A>C (p.Arg537=)
NM_002834.5(PTPN11):c.1623A>G (p.Glu541=)
NM_002834.5(PTPN11):c.1635T>C (p.Ile545=) rs1166186438
NM_002834.5(PTPN11):c.1680C>T (p.Leu560=)
NM_002834.5(PTPN11):c.1704C>T (p.Pro568=)
NM_002834.5(PTPN11):c.1712+11C>T
NM_002834.5(PTPN11):c.1712+15A>T
NM_002834.5(PTPN11):c.1712+9T>G
NM_002834.5(PTPN11):c.1731T>G (p.Ala577=) rs2135930829
NM_002834.5(PTPN11):c.198T>C (p.Tyr66=)
NM_002834.5(PTPN11):c.210A>G (p.Lys70=)
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.228G>A (p.Glu76=)
NM_002834.5(PTPN11):c.294T>G (p.Leu98=)
NM_002834.5(PTPN11):c.312T>C (p.Cys104=) rs1026762762
NM_002834.5(PTPN11):c.332+7A>T
NM_002834.5(PTPN11):c.333-11A>G
NM_002834.5(PTPN11):c.333-18A>T
NM_002834.5(PTPN11):c.342T>C (p.His114=)
NM_002834.5(PTPN11):c.351C>G (p.Leu117=)
NM_002834.5(PTPN11):c.354T>G (p.Ser118=)
NM_002834.5(PTPN11):c.363A>G (p.Glu121=) rs2135866636
NM_002834.5(PTPN11):c.36T>C (p.Thr12=) rs760086740
NM_002834.5(PTPN11):c.381T>C (p.Thr127=) rs757004128
NM_002834.5(PTPN11):c.384A>G (p.Glu128=)
NM_002834.5(PTPN11):c.42G>A (p.Val14=)
NM_002834.5(PTPN11):c.507T>C (p.His169=) rs2135867467
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.525+11A>G rs775512160
NM_002834.5(PTPN11):c.525+16A>T
NM_002834.5(PTPN11):c.525+19A>G
NM_002834.5(PTPN11):c.526-14G>A
NM_002834.5(PTPN11):c.526-18_526-17del rs1471067408
NM_002834.5(PTPN11):c.526-20T>C rs774566320
NM_002834.5(PTPN11):c.528A>G (p.Glu176=)
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.5(PTPN11):c.567T>C (p.Ser189=) rs2135869537
NM_002834.5(PTPN11):c.570G>A (p.Leu190=)
NM_002834.5(PTPN11):c.60G>A (p.Leu20=)
NM_002834.5(PTPN11):c.615A>G (p.Thr205=) rs1592830197
NM_002834.5(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.5(PTPN11):c.636C>A (p.Leu212=)
NM_002834.5(PTPN11):c.636C>G (p.Leu212=) rs1592830239
NM_002834.5(PTPN11):c.642+17G>A
NM_002834.5(PTPN11):c.642+19T>G
NM_002834.5(PTPN11):c.643-17C>T
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002834.5(PTPN11):c.643-6G>T rs780387568
NM_002834.5(PTPN11):c.643-8T>C
NM_002834.5(PTPN11):c.645C>A (p.Pro215=)
NM_002834.5(PTPN11):c.645C>G (p.Pro215=)
NM_002834.5(PTPN11):c.654G>A (p.Thr218=)
NM_002834.5(PTPN11):c.696A>G (p.Glu232=)
NM_002834.5(PTPN11):c.697C>T (p.Leu233=)
NM_002834.5(PTPN11):c.6A>G (p.Thr2=) rs768238710
NM_002834.5(PTPN11):c.756+16A>G
NM_002834.5(PTPN11):c.756+16A>T
NM_002834.5(PTPN11):c.756+18T>C
NM_002834.5(PTPN11):c.756+19G>A
NM_002834.5(PTPN11):c.756+22_756+36del
NM_002834.5(PTPN11):c.757-12C>G
NM_002834.5(PTPN11):c.825C>T (p.Asn275=)
NM_002834.5(PTPN11):c.853+12T>C
NM_002834.5(PTPN11):c.853+14T>G
NM_002834.5(PTPN11):c.853+18G>T
NM_002834.5(PTPN11):c.853+19C>T
NM_002834.5(PTPN11):c.854-13_854-12del
NM_002834.5(PTPN11):c.854-15C>T
NM_002834.5(PTPN11):c.854-17G>A
NM_002834.5(PTPN11):c.861T>C (p.His287=)
NM_002834.5(PTPN11):c.882T>C (p.Asp294=)
NM_002834.5(PTPN11):c.912C>T (p.Tyr304=)
NM_002834.5(PTPN11):c.915C>T (p.Ile305=) rs2038528739
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_002834.5(PTPN11):c.933+7T>G
NM_002834.5(PTPN11):c.933+8T>C
NM_002834.5(PTPN11):c.934-10A>G
NM_002834.5(PTPN11):c.934-12del
NM_002834.5(PTPN11):c.948C>G (p.Thr316=)
NM_002834.5(PTPN11):c.984T>C (p.Ile328=)
NM_002834.5(PTPN11):c.99T>C (p.Pro33=) rs2135856472

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