ClinVar Miner

List of variants in gene SHOC2 studied for RASopathy

Included ClinVar conditions (63):
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_001269039.2(SHOC2):c.-346T>G
NM_007373.3(SHOC2):c.*1062dup rs530047047
NM_007373.3(SHOC2):c.*1106A>C rs118172559
NM_007373.3(SHOC2):c.*1218C>T rs886046735
NM_007373.3(SHOC2):c.*1245T>C rs754913685
NM_007373.3(SHOC2):c.*1323C>T rs371721188
NM_007373.3(SHOC2):c.*1324G>A rs559572636
NM_007373.3(SHOC2):c.*1483G>A rs180979375
NM_007373.3(SHOC2):c.*1486dup rs549502834
NM_007373.3(SHOC2):c.*1487G>T rs7074770
NM_007373.3(SHOC2):c.*1487del rs143768227
NM_007373.3(SHOC2):c.*1503A>G rs1327552
NM_007373.3(SHOC2):c.*1575A>G rs886046736
NM_007373.3(SHOC2):c.*164T>A rs191293913
NM_007373.3(SHOC2):c.*16C>A rs753327392
NM_007373.3(SHOC2):c.*1775T>C rs535776105
NM_007373.3(SHOC2):c.*1775del rs527775221
NM_007373.3(SHOC2):c.*3T>C rs143187497
NM_007373.3(SHOC2):c.*404A>G rs539394184
NM_007373.3(SHOC2):c.*506_*509del rs371679867
NM_007373.3(SHOC2):c.*518T>C rs886046731
NM_007373.3(SHOC2):c.*614T>G rs886046732
NM_007373.3(SHOC2):c.*625del rs886046733
NM_007373.3(SHOC2):c.*656C>G rs557334390
NM_007373.3(SHOC2):c.*697C>T rs189140753
NM_007373.3(SHOC2):c.*773G>A rs114628508
NM_007373.3(SHOC2):c.*914G>A rs189223963
NM_007373.3(SHOC2):c.*958C>A rs372493479
NM_007373.3(SHOC2):c.-114C>G
NM_007373.3(SHOC2):c.-244G>T rs192673935
NM_007373.3(SHOC2):c.-254C>T rs886046728
NM_007373.3(SHOC2):c.1004G>A (p.Ser335Asn) rs1590835179
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
NM_007373.3(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1284+15G>A rs770745229
NM_007373.3(SHOC2):c.1302C>T (p.Asn434=) rs146147503
NM_007373.3(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940
NM_007373.3(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926
NM_007373.3(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.3(SHOC2):c.1682T>C (p.Val561Ala) rs776628753
NM_007373.3(SHOC2):c.1689G>T (p.Gly563=) rs759803668
NM_007373.3(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203
NM_007373.3(SHOC2):c.181C>A (p.Gln61Lys) rs1564714635
NM_007373.3(SHOC2):c.303T>C (p.Asn101=) rs750568201
NM_007373.3(SHOC2):c.32C>A (p.Ser11Tyr) rs1381863749
NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) rs147068827
NM_007373.3(SHOC2):c.363G>A (p.Glu121=) rs115713408
NM_007373.3(SHOC2):c.377C>T (p.Thr126Ile) rs138375593
NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) rs730881018
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.3(SHOC2):c.52G>A (p.Val18Ile) rs1226932309
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.613A>G (p.Thr205Ala) rs768411950
NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) rs751292868
NM_007373.3(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.3(SHOC2):c.71G>A (p.Arg24Lys) rs1564714561
NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.3(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.3(SHOC2):c.841+12G>A rs201258692
NM_007373.3(SHOC2):c.842-3C>T rs1485718634
NM_007373.3(SHOC2):c.879T>C (p.Tyr293=) rs773817796
NM_007373.3(SHOC2):c.886C>T (p.Leu296=) rs199723694
NM_007373.3(SHOC2):c.894A>C (p.Ala298=) rs767912952
NM_007373.3(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927
NM_007373.3(SHOC2):c.973-5del rs730881016
NM_007373.4(SHOC2):c.*1269A>G
NM_007373.4(SHOC2):c.*1381G>C
NM_007373.4(SHOC2):c.*1508G>T
NM_007373.4(SHOC2):c.*20C>T
NM_007373.4(SHOC2):c.*685C>T
NM_007373.4(SHOC2):c.*825G>A
NM_007373.4(SHOC2):c.*979C>T
NM_007373.4(SHOC2):c.*990T>G
NM_007373.4(SHOC2):c.-159T>C rs72819758
NM_007373.4(SHOC2):c.-179T>A rs143180451
NM_007373.4(SHOC2):c.-1C>T rs398124252
NM_007373.4(SHOC2):c.-235+15A>G
NM_007373.4(SHOC2):c.-259G>A
NM_007373.4(SHOC2):c.-264A>T
NM_007373.4(SHOC2):c.1046G>A (p.Gly349Asp)
NM_007373.4(SHOC2):c.1073A>G (p.Tyr358Cys)
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231
NM_007373.4(SHOC2):c.1215A>G (p.Val405=)
NM_007373.4(SHOC2):c.1356G>C (p.Glu452Asp)
NM_007373.4(SHOC2):c.1423-7C>T rs180671383
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn)
NM_007373.4(SHOC2):c.1540+8C>A rs771283010
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_007373.4(SHOC2):c.1669C>T (p.Pro557Ser)
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911
NM_007373.4(SHOC2):c.1726G>A (p.Gly576Ser)
NM_007373.4(SHOC2):c.334A>G (p.Ile112Val)
NM_007373.4(SHOC2):c.476C>A (p.Thr159Asn)
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe)
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg)
NM_007373.4(SHOC2):c.619G>A (p.Val207Met)
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr)

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