ClinVar Miner

List of variants reported as pathogenic for polymicrogyria

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met) rs144363917 0.00013
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) rs201884120 0.00010
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) rs121908464 0.00003
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter) rs777006911 0.00001
NM_058004.4(PI4KA):c.2575-1G>A rs775166339 0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) rs1351749039 0.00001
NM_058004.4(PI4KA):c.4867T>G (p.Tyr1623Asp) rs776650691 0.00001
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn) rs747119727 0.00001
NM_201525.4(ADGRG1):c.1468G>A (p.Glu490Lys) rs556518689 0.00001
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter) rs746634404 0.00001
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) rs780718243 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_201525.4(ADGRG1):c.620+1G>A rs587783660 0.00001
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3
NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter) rs1558010146
NM_000702.4(ATP1A2):c.295_296dup (p.Ile100fs) rs1558003446
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) rs1942163977
NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln) rs1199412903
NM_014845.6(FIG4):c.2247dup (p.Ser750fs) rs767193357
NM_014845.6(FIG4):c.2348A>T (p.Asp783Val) rs587777716
NM_014845.6(FIG4):c.290-2A>G rs587777715
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro) rs1490645147
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs) rs747391554
NM_058004.4(PI4KA):c.2977del (p.Leu993fs)
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) rs144933467
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter) rs2147287553
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr) rs1929601378
NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile) rs2147194890
NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del) rs1925715512
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu) rs2147171210
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs) rs1419816068
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs) rs139598272
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe) rs318240757
NM_173630.4(RTTN):c.5185+1G>A rs1555707336
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys) rs1757271243
NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His) rs1581525683
NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn) rs397514567
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro) rs397514569
NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro) rs137853194
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro) rs137853195
NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe) rs878853284
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.776C>T (p.Pro259Leu)
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu) rs137853196
NM_201525.4(ADGRG1):c.-36+10587_-36+10601del rs587777312
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) rs121908463
NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) rs786204777
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) rs121908462
NM_201525.4(ADGRG1):c.1167+3G>C rs587776623
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) rs797045600
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter)
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) rs587783655
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) rs1567815105
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu)
NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys) rs121908466
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) rs587783658
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_201525.4(ADGRG1):c.580C>T (p.Gln194Ter) rs2148318641
NM_201525.4(ADGRG1):c.621-1G>C rs587776624
NM_201525.4(ADGRG1):c.671del (p.Asp224fs) rs1057517949
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.781G>T (p.Glu261Ter)
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter) rs768441855
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) rs1567782714
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) rs797045602

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