ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability

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ClinVar version:
Total variants: 80
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HGVS dbSNP
NC_000001.11:g.153812287_153823987del
NC_000014.9:g.101882230G>A
NC_000023.10:g.11600773_12249902del649130
NC_000023.10:g.11633731_11797224del163494
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000530.8(MPZ):c.486del (p.Ile162fs)
NM_001005271.3(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005273.2(CHD3):c.1369G>T (p.Glu457Ter) rs1567844992
NM_001005273.2(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.2(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.2(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.2(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.2(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.2(CHD3):c.3325_3327del rs1567859975
NM_001005273.2(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
NM_001005273.2(CHD3):c.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.2(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.2(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.2(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.2(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.2(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.2(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.2(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.2(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.2(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.2(CHD3):c.4073-2A>G rs1567864750
NM_001005273.2(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.2(CHD3):c.5802_5803insGAAC (p.Phe1935fs) rs1567878511
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)
NM_001172509.2(SATB2):c.598-2A>G
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly)
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg) rs1569459580
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His)
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) rs878853264
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) rs1569017160
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) rs1569017025
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) rs1569016820
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005445.3(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005710.2(PQBP1):c.451_452AG[4] (p.Arg153fs) rs606231193
NM_005710.2(PQBP1):c.731C>T (p.Pro244Leu) rs878853145
NM_005852.4(CHD3):c.3477C>A (p.Asn1159Lys)
NM_006516.3(SLC2A1):c.107C>T (p.Pro36Leu)
NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_014927.5(CNKSR2):c.228+1G>A rs1569161831
NM_015335.4(MED13L):c.2345-3C>G
NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter)
NM_015981.4(CAMK2A):c.598+2dup rs1554122123
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp)
NM_018977.4(NLGN3):c.1789C>T (p.Arg597Trp) rs878853147
NM_021911.2(GABRB2):c.895A>T (p.Ile299Phe)
NM_021956.4(GRIK2):c.808C>T (p.Arg270Ter)
NM_021998.5(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs) rs1553283831
NM_032682.5(FOXP1):c.1000G>C (p.Asp334His)
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter) rs1555906768
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs) rs1555906781
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) rs1555907620
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) rs1555907623
NM_078629.4(MSL3):c.1381+1G>T rs1555907626
NM_078629.4(MSL3):c.1436dup (p.Leu480fs) rs1555907653
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs) rs1555907864
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) rs1555906707
NM_171825.2(CAMK2A):c.65del rs1554123982
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
Single allele
inv(X)(p22.2q28)

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