ClinVar Miner

List of variants in gene SHOC2 reported as uncertain significance for RASopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_007373.4(SHOC2):c.1580A>G (p.Asn527Ser) rs143242369 0.00009
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile) rs759910472 0.00004
NM_007373.4(SHOC2):c.-1C>T rs398124252 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_007373.4(SHOC2):c.1337A>G (p.Asn446Ser) rs730881017 0.00002
NM_007373.4(SHOC2):c.1633A>G (p.Ile545Val) rs778280516 0.00002
NM_007373.4(SHOC2):c.1738G>A (p.Ala580Thr) rs1234368339 0.00002
NM_007373.4(SHOC2):c.428G>A (p.Gly143Glu) rs750480407 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_007373.4(SHOC2):c.1073A>G (p.Tyr358Cys) rs779128466 0.00001
NM_007373.4(SHOC2):c.1161+5G>T rs375479660 0.00001
NM_007373.4(SHOC2):c.1273G>A (p.Val425Ile) rs772835258 0.00001
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe) rs730881022 0.00001
NM_007373.4(SHOC2):c.1417T>A (p.Leu473Ile) rs767686810 0.00001
NM_007373.4(SHOC2):c.1422+8T>G rs1267333219 0.00001
NM_007373.4(SHOC2):c.1425A>G (p.Lys475=) rs1483409374 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940 0.00001
NM_007373.4(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.1682T>C (p.Val561Ala) rs776628753 0.00001
NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro) rs754709778 0.00001
NM_007373.4(SHOC2):c.1736G>A (p.Arg579His) rs1185910534 0.00001
NM_007373.4(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_007373.4(SHOC2):c.332C>T (p.Ser111Phe) rs149084468 0.00001
NM_007373.4(SHOC2):c.445A>G (p.Met149Val) rs766550166 0.00001
NM_007373.4(SHOC2):c.52G>A (p.Val18Ile) rs1226932309 0.00001
NM_007373.4(SHOC2):c.574G>T (p.Asp192Tyr) rs769457449 0.00001
NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala) rs370388274 0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met) rs998435032 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser) rs374067666 0.00001
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe) rs1196924389 0.00001
NM_007373.4(SHOC2):c.769A>G (p.Ile257Val) rs1476197124 0.00001
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr) rs1300537933 0.00001
NM_007373.4(SHOC2):c.842-3C>T rs1485718634 0.00001
NM_007373.4(SHOC2):c.920G>C (p.Ser307Thr) rs1848351785 0.00001
NC_000010.10:g.(?_112768986)_(112771576_?)del
NM_007373.4(SHOC2):c.1004G>A (p.Ser335Asn) rs1590835179
NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)
NM_007373.4(SHOC2):c.1035G>T (p.Leu345Phe)
NM_007373.4(SHOC2):c.103G>A (p.Gly35Arg)
NM_007373.4(SHOC2):c.103G>T (p.Gly35Trp) rs751634012
NM_007373.4(SHOC2):c.1046G>A (p.Gly349Asp) rs1848437298
NM_007373.4(SHOC2):c.1049G>A (p.Gly350Asp)
NM_007373.4(SHOC2):c.1055C>T (p.Ser352Phe) rs1848437546
NM_007373.4(SHOC2):c.1072T>C (p.Tyr358His)
NM_007373.4(SHOC2):c.107A>G (p.Lys36Arg)
NM_007373.4(SHOC2):c.1097G>A (p.Arg366Gln) rs1219277268
NM_007373.4(SHOC2):c.1097G>T (p.Arg366Leu)
NM_007373.4(SHOC2):c.1103A>G (p.Asn368Ser)
NM_007373.4(SHOC2):c.110A>G (p.Glu37Gly)
NM_007373.4(SHOC2):c.1130G>A (p.Arg377Lys)
NM_007373.4(SHOC2):c.113G>A (p.Ser38Asn)
NM_007373.4(SHOC2):c.1161+4A>G
NM_007373.4(SHOC2):c.1161+6C>T
NM_007373.4(SHOC2):c.1164C>A (p.Asp388Glu)
NM_007373.4(SHOC2):c.1166A>G (p.Asn389Ser) rs2134177725
NM_007373.4(SHOC2):c.1208G>C (p.Ser403Thr) rs1487427017
NM_007373.4(SHOC2):c.1213G>C (p.Val405Leu)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.126A>T (p.Glu42Asp)
NM_007373.4(SHOC2):c.1292T>C (p.Ile431Thr)
NM_007373.4(SHOC2):c.1297T>C (p.Ser433Pro)
NM_007373.4(SHOC2):c.1300A>G (p.Asn434Asp)
NM_007373.4(SHOC2):c.130A>G (p.Lys44Glu)
NM_007373.4(SHOC2):c.1324C>G (p.His442Asp)
NM_007373.4(SHOC2):c.1325A>T (p.His442Leu)
NM_007373.4(SHOC2):c.1334G>A (p.Gly445Glu)
NM_007373.4(SHOC2):c.134C>G (p.Thr45Ser)
NM_007373.4(SHOC2):c.1356G>C (p.Glu452Asp) rs1047190791
NM_007373.4(SHOC2):c.1434G>C (p.Leu478Phe)
NM_007373.4(SHOC2):c.1435A>T (p.Thr479Ser)
NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)
NM_007373.4(SHOC2):c.1468A>G (p.Ile490Val)
NM_007373.4(SHOC2):c.1474C>A (p.His492Asn)
NM_007373.4(SHOC2):c.1480A>G (p.Thr494Ala) rs1188545694
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn) rs758241851
NM_007373.4(SHOC2):c.1482dup (p.Asn495Ter)
NM_007373.4(SHOC2):c.1490C>G (p.Thr497Arg)
NM_007373.4(SHOC2):c.1520C>T (p.Thr507Ile) rs2134180790
NM_007373.4(SHOC2):c.1539T>C (p.Ile513=)
NM_007373.4(SHOC2):c.154G>T (p.Asp52Tyr)
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val) rs2134182984
NM_007373.4(SHOC2):c.1580A>T (p.Asn527Ile)
NM_007373.4(SHOC2):c.1582C>G (p.Pro528Ala) rs869025524
NM_007373.4(SHOC2):c.1582C>T (p.Pro528Ser) rs869025524
NM_007373.4(SHOC2):c.1592A>G (p.His531Arg) rs1848567648
NM_007373.4(SHOC2):c.1625A>G (p.Lys542Arg)
NM_007373.4(SHOC2):c.1627C>T (p.Leu543Phe) rs1446237590
NM_007373.4(SHOC2):c.1637T>G (p.Met546Arg) rs2134183100
NM_007373.4(SHOC2):c.1669C>T (p.Pro557Ser) rs761448239
NM_007373.4(SHOC2):c.1689G>T (p.Gly563=) rs759803668
NM_007373.4(SHOC2):c.1692dup (p.Pro565fs)
NM_007373.4(SHOC2):c.1693C>A (p.Pro565Thr)
NM_007373.4(SHOC2):c.16G>C (p.Gly6Arg)
NM_007373.4(SHOC2):c.1703T>C (p.Ile568Thr)
NM_007373.4(SHOC2):c.1726G>A (p.Gly576Ser) rs1848570319
NM_007373.4(SHOC2):c.173G>A (p.Ser58Asn)
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.4(SHOC2):c.1743G>A (p.Met581Ile)
NM_007373.4(SHOC2):c.1749A>C (p.Ter583Cys)
NM_007373.4(SHOC2):c.181C>A (p.Gln61Lys) rs1564714635
NM_007373.4(SHOC2):c.183A>T (p.Gln61His)
NM_007373.4(SHOC2):c.212C>T (p.Thr71Met)
NM_007373.4(SHOC2):c.22G>C (p.Glu8Gln)
NM_007373.4(SHOC2):c.236C>G (p.Pro79Arg)
NM_007373.4(SHOC2):c.238G>A (p.Gly80Arg) rs1847637531
NM_007373.4(SHOC2):c.242C>T (p.Thr81Ile) rs1359743107
NM_007373.4(SHOC2):c.254C>T (p.Ser85Phe) rs1847637817
NM_007373.4(SHOC2):c.258C>A (p.Ser86Arg)
NM_007373.4(SHOC2):c.263C>G (p.Ala88Gly)
NM_007373.4(SHOC2):c.28G>T (p.Asp10Tyr)
NM_007373.4(SHOC2):c.31T>C (p.Ser11Pro)
NM_007373.4(SHOC2):c.321A>C (p.Leu107Phe)
NM_007373.4(SHOC2):c.326A>G (p.Lys109Arg) rs2134121410
NM_007373.4(SHOC2):c.332C>G (p.Ser111Cys) rs149084468
NM_007373.4(SHOC2):c.334A>G (p.Ile112Val) rs1418386730
NM_007373.4(SHOC2):c.338A>G (p.His113Arg)
NM_007373.4(SHOC2):c.342A>G (p.Ile114Met) rs2134121467
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly) rs768053004
NM_007373.4(SHOC2):c.476C>A (p.Thr159Asn) rs758157906
NM_007373.4(SHOC2):c.47C>G (p.Pro16Arg)
NM_007373.4(SHOC2):c.506A>G (p.Lys169Arg) rs2134121699
NM_007373.4(SHOC2):c.511C>A (p.Leu171Met) rs1847643199
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp) rs1057517872
NM_007373.4(SHOC2):c.515G>A (p.Arg172Gln)
NM_007373.4(SHOC2):c.526T>A (p.Leu176Ile)
NM_007373.4(SHOC2):c.527T>C (p.Leu176Ser) rs2134121776
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
NM_007373.4(SHOC2):c.562G>A (p.Val188Met)
NM_007373.4(SHOC2):c.562G>C (p.Val188Leu)
NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe) rs1847644218
NM_007373.4(SHOC2):c.568A>G (p.Arg190Gly)
NM_007373.4(SHOC2):c.569G>A (p.Arg190Lys)
NM_007373.4(SHOC2):c.580C>T (p.Leu194Phe)
NM_007373.4(SHOC2):c.584C>T (p.Thr195Ile)
NM_007373.4(SHOC2):c.612A>G (p.Ile204Met)
NM_007373.4(SHOC2):c.633C>G (p.Ile211Met)
NM_007373.4(SHOC2):c.644C>G (p.Ser215Ter)
NM_007373.4(SHOC2):c.647A>T (p.Lys216Ile)
NM_007373.4(SHOC2):c.685C>A (p.Gln229Lys)
NM_007373.4(SHOC2):c.713G>A (p.Cys238Tyr)
NM_007373.4(SHOC2):c.71G>A (p.Arg24Lys) rs1564714561
NM_007373.4(SHOC2):c.721A>G (p.Ile241Val)
NM_007373.4(SHOC2):c.769A>T (p.Ile257Phe)
NM_007373.4(SHOC2):c.77A>G (p.Lys26Arg)
NM_007373.4(SHOC2):c.794A>C (p.Asn265Thr)
NM_007373.4(SHOC2):c.794A>G (p.Asn265Ser)
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_007373.4(SHOC2):c.815A>T (p.Glu272Val) rs2134149258
NM_007373.4(SHOC2):c.826C>T (p.Leu276Phe)
NM_007373.4(SHOC2):c.841+20A>G
NM_007373.4(SHOC2):c.862C>T (p.Arg288Cys)
NM_007373.4(SHOC2):c.88G>A (p.Ala30Thr)
NM_007373.4(SHOC2):c.892G>A (p.Ala298Thr)
NM_007373.4(SHOC2):c.910G>A (p.Ala304Thr)
NM_007373.4(SHOC2):c.919A>G (p.Ser307Gly)
NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
NM_007373.4(SHOC2):c.937A>C (p.Asn313His)
NM_007373.4(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927
NM_007373.4(SHOC2):c.973-3_973-2del
NM_007373.4(SHOC2):c.974G>A (p.Ser325Asn)

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.