ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
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.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.1092+9C>T rs374768093 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.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.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.957C>T (p.Asn319=) rs771407775 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
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.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+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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.