List of variants reported as uncertain significance for X-linked intellectual disability with marfanoid habitus

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)	rs146785878	0.00013
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp)	rs374676402	0.00007
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	rs372606012	0.00006
NM_080632.3(UPF3B):c.277A>G (p.Met93Val)	rs770557726	0.00004
NM_005120.3(MED12):c.2849+14C>T	rs398124196	0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)	rs754982440	0.00003
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	rs368913305	0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	rs748453083	0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	rs1294140756	0.00002
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln)	rs185347914	0.00002
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln)	rs775993429	0.00002
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu)	rs780652469	0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)	rs147945173	0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	rs752300879	0.00001
NM_005120.3(MED12):c.1746G>A (p.Thr582=)	rs773240125	0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val)	rs1401003961	0.00001
NM_005120.3(MED12):c.3692-7A>G	rs1014804538	0.00001
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)	rs777250096	0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	rs1366165823	0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	rs2092288110	0.00001
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly)	rs1402767794	0.00001
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu)	rs898086981	0.00001
NM_080632.3(UPF3B):c.1302+6G>A	rs752421745	0.00001
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro)	rs748622995	0.00001
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)	rs985384811	0.00001
NM_080632.3(UPF3B):c.846+1G>A	rs373920032	0.00001
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)	rs376175156	0.00001
NC_000023.10:g.(?_118708675)_(119761021_?)dup
NC_000023.10:g.(?_118968821)_(118986911_?)dup
NM_005120.3(MED12):c.1439T>C (p.Leu480Pro)	rs2092293046
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)	rs1135401775
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)	rs2092303365
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala)	rs2092303518
NM_005120.3(MED12):c.3002A>G (p.Lys1001Arg)
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)	rs2092311027
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)	rs2092311077
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)	rs2092312145
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)	rs1459632977
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)	rs2092313149
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696
NM_005120.3(MED12):c.4244C>G (p.Pro1415Arg)
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)	rs2092320033
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)	rs2147830593
NM_005120.3(MED12):c.6062_6094del (p.Leu2021_Thr2031del)
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)	rs1379201163
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)
NM_080632.3(UPF3B):c.1042A>G (p.Arg348Gly)
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)
NM_080632.3(UPF3B):c.106G>A (p.Gly36Arg)
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)
NM_080632.3(UPF3B):c.1154C>T (p.Thr385Ile)
NM_080632.3(UPF3B):c.1157T>C (p.Phe386Ser)
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
NM_080632.3(UPF3B):c.1281G>C (p.Lys427Asn)
NM_080632.3(UPF3B):c.1283G>C (p.Arg428Thr)
NM_080632.3(UPF3B):c.1317G>A (p.Met439Ile)
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
NM_080632.3(UPF3B):c.1340G>A (p.Arg447Gln)
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)
NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)
NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)
NM_080632.3(UPF3B):c.1436A>G (p.Glu479Gly)
NM_080632.3(UPF3B):c.145G>A (p.Ala49Thr)
NM_080632.3(UPF3B):c.156+3G>T
NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)
NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
NM_080632.3(UPF3B):c.19C>T (p.His7Tyr)
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
NM_080632.3(UPF3B):c.22A>G (p.Arg8Gly)
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAT
NM_080632.3(UPF3B):c.263+19_263+20delinsAA
NM_080632.3(UPF3B):c.311A>G (p.Gln104Arg)
NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)
NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)
NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly)	rs2147790181
NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)
NM_080632.3(UPF3B):c.520A>G (p.Met174Val)
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)
NM_080632.3(UPF3B):c.624+4A>C
NM_080632.3(UPF3B):c.625-3T>C
NM_080632.3(UPF3B):c.651_653del (p.Arg221del)
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del)	rs2056156815
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)
NM_080632.3(UPF3B):c.846T>A (p.Asn282Lys)
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)
NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)
NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)

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