ClinVar Miner

List of variants reported as uncertain significance for FG syndrome by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile)
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser) rs1602295395
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
NM_005120.3(MED12):c.1485+5G>A rs1006276729
NM_005120.3(MED12):c.1619G>A (p.Arg540His) rs774363039
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.3(MED12):c.1744+4C>T rs780750721
NM_005120.3(MED12):c.1744+5G>A rs368353373
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly) rs1569481250
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr)
NM_005120.3(MED12):c.2227-4G>A rs751157238
NM_005120.3(MED12):c.2305C>A (p.His769Asn)
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser) rs1602297729
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)
NM_005120.3(MED12):c.281C>T (p.Pro94Leu) rs1602293842
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3149G>A (p.Arg1050His)
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
NM_005120.3(MED12):c.3691+4C>T rs373381746
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785
NM_005120.3(MED12):c.3762_3764AGG[1] (p.Gly1257del) rs1602300077
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser) rs776373565
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly)
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005120.3(MED12):c.4028G>A (p.Arg1343His) rs201044355
NM_005120.3(MED12):c.4048-1G>A
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly) rs961569982
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.3(MED12):c.4253+4G>A rs750162341
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala) rs1375497967
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)
NM_005120.3(MED12):c.503C>T (p.Ala168Val) rs1602294043
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys) rs1569482278
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.3(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln) rs1432487094
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val) rs1326683020
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala)
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu)
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr) rs1602306821
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873
NM_005120.3(MED12):c.6150_6152GCA[7] (p.Gln2076dup) rs769857818
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.6177_6200ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del) rs773709991
NM_005120.3(MED12):c.6186_6188GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln) rs1602306967
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6267+3A>C
NM_005120.3(MED12):c.6273_6278dup (p.Gln2115_His2116insGlnGln) rs748394417
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288_6290GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)
NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
NM_005120.3(MED12):c.6384A>G (p.Gln2128=)
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)
NM_005120.3(MED12):c.727A>C (p.Met243Leu) rs1569480971
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)
NM_005120.3(MED12):c.817C>T (p.Leu273Phe) rs1219519252

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