ClinVar Miner

List of variants in gene MED12 studied for FG syndrome

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Total variants: 137
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HGVS dbSNP
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.11:g.71129143G>T
NM_005120.2(MED12):c.204+12_204+13delCT rs200301833
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.1269G>A (p.Glu423=) rs758467351
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.1485+5G>A
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005120.3(MED12):c.1619G>A (p.Arg540His)
NM_005120.3(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.3(MED12):c.1744+4C>T rs780750721
NM_005120.3(MED12):c.1744+5G>A rs368353373
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151
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.2136C>T (p.Pro712=) rs377207665
NM_005120.3(MED12):c.2169G>A (p.Gly723=) rs1060504497
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.3(MED12):c.2227-4G>A
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361
NM_005120.3(MED12):c.2450G>A (p.Arg817His)
NM_005120.3(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.3(MED12):c.281C>T (p.Pro94Leu)
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496
NM_005120.3(MED12):c.3063C>T (p.Phe1021=) rs797045698
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met)
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.3(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.3(MED12):c.3691+4C>T rs373381746
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785
NM_005120.3(MED12):c.3762_3764AGG[1] (p.Gly1257del)
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.3849G>T (p.Leu1283=) rs377409217
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670
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.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly)
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.3(MED12):c.4253+4G>A rs750162341
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801
NM_005120.3(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.3(MED12):c.503C>T (p.Ala168Val)
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys) rs1569482278
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057
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)
NM_005120.3(MED12):c.5400+6C>T rs192656109
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)
NM_005120.3(MED12):c.5427C>T (p.Ser1809=) rs772462354
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val)
NM_005120.3(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
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.6103G>A (p.Ala2035Thr)
NM_005120.3(MED12):c.6150_6152GCA[7] (p.Gln2076dup)
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.6201A>G (p.Gln2067=) rs375793297
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln)
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.6273G>A (p.Gln2091=) rs1556340048
NM_005120.3(MED12):c.6273_6278dup (p.Gln2115_His2116insGlnGln)
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
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.6291G>A (p.Gln2097=) rs756285149
NM_005120.3(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.3(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.3(MED12):c.6303G>A (p.Gln2101=) rs1490399010
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.6321G>A (p.Gln2107=) rs778103349
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.3(MED12):c.6327G>A (p.Gln2109=) rs1333460909
NM_005120.3(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005120.3(MED12):c.727A>C (p.Met243Leu)
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)

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