List of variants reported as uncertain significance for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

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Total variants: 61

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.358A>G (p.Met120Val)	rs377068982	0.00023
NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)	rs72996036	0.00013
NM_015100.4(POGZ):c.3334A>G (p.Ile1112Val)	rs1191231647	0.00004
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys)	rs756483529	0.00004
NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn)	rs888864913	0.00003
NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln)	rs537298438	0.00003
NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe)	rs768284272	0.00003
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)	rs267598016	0.00002
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln)	rs763820362	0.00002
NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)	rs371889945	0.00002
NM_015100.4(POGZ):c.163A>G (p.Ile55Val)	rs768095572	0.00001
NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys)	rs749648996	0.00001
NM_015100.4(POGZ):c.2504T>G (p.Val835Gly)	rs1179290120	0.00001
NM_015100.4(POGZ):c.284-3T>C	rs374645463	0.00001
NM_015100.4(POGZ):c.3011G>A (p.Arg1004His)	rs774729338	0.00001
NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys)	rs934192477	0.00001
NM_015100.4(POGZ):c.3425G>A (p.Arg1142Gln)	rs778651356	0.00001
NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg)	rs765820329	0.00001
NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly)	rs1220465341	0.00001
NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr)	rs768968029	0.00001
NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)	rs778409159	0.00001
NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)	rs776740035	0.00001
NM_000168.6(GLI3):c.4019C>A (p.Pro1340His)	rs1173615111
NM_015100.4(POGZ):c.1064A>T (p.Glu355Val)	rs2529496414
NM_015100.4(POGZ):c.1078+2T>C	rs2529496106
NM_015100.4(POGZ):c.118A>G (p.Thr40Ala)	rs2102370481
NM_015100.4(POGZ):c.1252C>A (p.Pro418Thr)	rs1277299979
NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys)	rs770810584
NM_015100.4(POGZ):c.13G>A (p.Asp5Asn)	rs1557938084
NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn)	rs779465815
NM_015100.4(POGZ):c.166G>A (p.Ala56Thr)	rs1283746447
NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr)	rs1654829470
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys)	rs1571340611
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile)	rs541476793
NM_015100.4(POGZ):c.2375A>G (p.Asn792Ser)	rs1202818073
NM_015100.4(POGZ):c.245C>G (p.Thr82Arg)	rs2529678767
NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln)	rs1369813061
NM_015100.4(POGZ):c.2546-20T>A	rs2102153141
NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del)	rs1653635853
NM_015100.4(POGZ):c.263C>G (p.Thr88Arg)	rs2529678334
NM_015100.4(POGZ):c.3100T>G (p.Trp1034Gly)	rs2102146896
NM_015100.4(POGZ):c.3107T>C (p.Leu1036Pro)	rs2102146840
NM_015100.4(POGZ):c.3120ACA[1] (p.Gln1042del)
NM_015100.4(POGZ):c.3403G>C (p.Glu1135Gln)	rs2529201620
NM_015100.4(POGZ):c.3476_3477insTAC (p.Val1159_Val1160insThr)	rs2529200508
NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile)	rs1042613899
NM_015100.4(POGZ):c.3564C>A (p.Asp1188Glu)
NM_015100.4(POGZ):c.3675G>A (p.Met1225Ile)	rs2529198059
NM_015100.4(POGZ):c.3727C>G (p.Leu1243Val)	rs2529197556
NM_015100.4(POGZ):c.3749C>G (p.Pro1250Arg)	rs2529197206
NM_015100.4(POGZ):c.3837del (p.Lys1279fs)	rs2529195990
NM_015100.4(POGZ):c.4008T>G (p.Ile1336Met)	rs1010981331
NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu)	rs2529192477
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg)	rs556553243
NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)	rs2529190447
NM_015100.4(POGZ):c.5C>T (p.Ala2Val)
NM_015100.4(POGZ):c.634G>A (p.Val212Met)	rs1553226286
NM_015100.4(POGZ):c.787C>G (p.Gln263Glu)	rs1658090172
NM_015100.4(POGZ):c.83C>T (p.Ser28Phe)	rs1439970488
NM_015100.4(POGZ):c.859+1G>A	rs2102294953
NM_015100.4(POGZ):c.91G>A (p.Glu31Lys)	rs2102370617

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