ClinVar Miner

List of variants reported as likely pathogenic for Abnormality of brain morphology

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ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_001048166.1(STIL):c.1226G>C (p.Ser409Thr) rs369348360
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001123383.1(BCOR):c.4190C>A (p.Ser1397Tyr) rs369432845
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) rs1060499755
NM_001184705.2(HADH):c.349G>T (p.Val117Leu) rs146732064
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter) rs1060499756
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) rs1060499771
NM_001271620.2(ZNF423):c.3190G>A (p.Glu1064Lys) rs548986682
NM_001271620.2(ZNF423):c.86G>A (p.Arg29His) rs745597535
NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn) rs375131638
NM_001349.4(DARS1):c.389G>C (p.Cys130Ser) rs1060499772
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001520.4(GTF3C1):c.4096G>A (p.Glu1366Lys) rs1060499746
NM_001552.3(IGFBP4):c.698C>T (p.Thr233Met) rs563069739
NM_001794.5(CDH4):c.1976G>C (p.Arg659Pro) rs765815715
NM_002206.3(ITGA7):c.132_133insA (p.Glu45fs) rs1060499775
NM_002944.2(ROS1):c.1094G>C (p.Gly365Ala) rs61743088
NM_003054.6(SLC18A2):c.711del (p.Phe238fs) rs762879329
NM_003069.5(SMARCA1):c.7C>T (p.Gln3Ter) rs1060499736
NM_003174.3(SVIL):c.2348C>T (p.Ser783Leu) rs767673427
NM_003314.3(TTC1):c.784T>G (p.Phe262Val) rs1060499752
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) rs1060499764
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037
NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg) rs138686233
NM_004651.3(USP11):c.722G>A (p.Arg241Gln) rs780096892
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_012156.2(EPB41L1):c.1912C>T (p.Arg638Cys) rs1060499773
NM_012437.6(SNAPIN):c.163C>T (p.Arg55Trp) rs1060499751
NM_013382.5(POMT2):c.431T>G (p.Met144Arg) rs1060499766
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014683.4(ULK2):c.1733A>G (p.His578Arg) rs1060499754
NM_014795.4(ZEB2):c.271_277del (p.Gly91fs) rs1060499770
NM_014877.4(HELZ):c.3322A>G (p.Ile1108Val) rs1060499747
NM_015158.4(KANK1):c.3237C>G (p.Ile1079Met) rs372628779
NM_015192.4(PLCB1):c.2179T>A (p.Trp727Arg) rs1060499765
NM_015243.2(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_015243.2(VPS13B):c.412+1G>T rs1057517295
NM_015560.2(OPA1):c.868C>T (p.Arg290Trp) rs780333963
NM_015567.1(SLITRK5):c.2515G>C (p.Glu839Gln) rs1060499750
NM_016648.4(LARP7):c.832A>T (p.Lys278Ter) rs1060499762
NM_016952.4(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) rs773888308
NM_018297.4(NGLY1):c.314T>G (p.Ile105Ser) rs1060499777
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile) rs759222737
NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg) rs1060499743
NM_020987.5(ANK3):c.9652C>T (p.Leu3218Phe) rs1060499742
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021098.3(CACNA1H):c.6898A>G (p.Ile2300Val) rs775271588
NM_021150.4(GRIP1):c.1142G>T (p.Ser381Ile) rs1060499774
NM_021150.4(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter) rs200618384
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr) rs765227276
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024783.4(AGBL2):c.1747C>T (p.Arg583Ter) rs764666741
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_030624.2(KLHL15):c.1474G>A (p.Val492Ile) rs1060499748
NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg) rs376997378
NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn) rs374879755
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.1460G>A (p.Arg487His) rs779613772
NM_032727.4(INA):c.562G>A (p.Gly188Arg) rs920363358
NM_032829.2(FAM222A):c.284A>T (p.His95Leu) rs763757845
NM_052988.5(CDK10):c.1070G>A (p.Arg357His) rs772157816
NM_052988.5(CDK10):c.725C>G (p.Thr242Ser) rs1060499745
NM_133170.4(PTPRT):c.1561-3C>T rs1060499749
NM_133170.4(PTPRT):c.206T>C (p.Val69Ala) rs762135776
NM_133645.3(MTO1):c.1862T>A (p.Leu621Gln) rs1060499776
NM_133645.3(MTO1):c.2008C>A (p.Arg670Ser) rs746382157
NM_152269.5(C12orf65):c.248del (p.Val83fs) rs587776508
NM_153816.6(SNX14):c.1672dup (p.Thr558fs) rs1554226470
NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr) rs1060499778
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769
NM_182961.4(SYNE1):c.19692+3G>A rs150304757

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