ClinVar Miner

Variants studied for Intellectual disability

Coded as:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
80 80 48 29 4 2 241

Gene and significance breakdown #

Total genes and gene combinations: 108
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GABRB2 0 1 23 7 4 0 35
CHD3 0 23 0 0 0 0 23
CAMK2A 8 2 0 0 0 0 10
MSL3 0 8 0 0 0 0 8
CAMK2B 5 2 0 0 0 0 7
KCNB1 3 3 0 0 0 0 6
MECP2 5 0 0 0 0 0 5
FOXP1 0 1 0 3 0 0 4
SLC2A1 2 2 0 0 0 0 4
TCF4 2 1 1 0 0 0 4
ACOT4 0 0 3 0 0 0 3
ARMCX5-GPRASP2, GPRASP1 0 0 3 0 0 0 3
FMR1 3 0 0 0 0 0 3
GRIN1 1 0 0 2 0 0 3
GRIN2A 1 1 1 0 0 0 3
HDAC8 1 2 0 0 0 0 3
MED13L 1 1 0 1 0 0 3
NAA10 0 3 0 0 0 0 3
SETBP1 0 1 0 2 0 0 3
WASF1 3 0 0 0 0 0 3
ARID1B 0 0 0 2 0 0 2
BCS1L 0 2 0 0 0 0 2
CNKSR2 0 1 1 0 0 0 2
CTNNB1 1 0 0 1 0 0 2
DYRK1A 2 0 0 0 0 0 2
GRIN2B 1 0 0 1 0 0 2
IQSEC2 1 1 0 0 0 0 2
KDM5C 2 0 0 0 0 0 2
KMT2A 1 0 0 1 0 0 2
KMT2C 1 0 1 0 0 0 2
MED12L 2 0 0 0 0 0 2
MED12L, P2RY12 2 0 0 0 0 0 2
P4HTM 0 0 2 0 0 0 2
PQBP1 0 2 0 0 0 0 2
SLC9A6 2 0 0 0 0 0 2
SPG7 0 2 0 0 0 0 2
TBR1 0 0 0 1 0 1 2
TCF20 2 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 1
ABCD1 0 1 0 0 0 0 1
ACSL4 0 1 0 0 0 0 1
ADCK5, ADGRB1, ARC, ARHGAP39, BOP1, C8orf31, C8orf33, C8orf82, CCDC166, COMMD5, CPSF1, CYC1, CYHR1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, JRK, KIFC2, LRRC14, LRRC24, LY6D, LY6E, LY6H, LY6K, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PSCA, PUF60, PYCR3, RECQL4, RHPN1, RPL8, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, THEM6, TIGD5, TMEM249, TONSL, TOP1MT, TSNARE1, TSTA3, VPS28, ZC3H3, ZFP41, ZNF16, ZNF250, ZNF251, ZNF34, ZNF517, ZNF623, ZNF696, ZNF7, ZNF707 1 0 0 0 0 0 1
AFF2 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, ZNF596 1 0 0 0 0 0 1
AHCY, ASIP 0 0 1 0 0 0 1
ALG11, ARL11, ATP7B, CAB39L, CCDC70, CDADC1, CKAP2, CNMD, CYSLTR2, DHRS12, DLEU1, DLEU2, DLEU7, EBPL, FAM124A, FNDC3A, HNRNPA1L2, INTS6, ITM2B, KCNRG, KPNA3, LINC00558, LPAR6, MED4, MIR15A, MIR16-1, MLNR, NEK3, NEK5, NUDT15, OLFM4, PCDH8, PHF11, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, RB1, RCBTB1, RCBTB2, RNASEH2B, SERPINE3, SETDB2, SPRYD7, SUCLA2, SUGT1, THSD1, TRIM13, UTP14C, VPS36, WDFY2 0 1 0 0 0 0 1
ANKRD42, CCDC81, CCDC83, CCDC89, CCDC90B, CHORDC1, CREBZF, CTSC, DDIAS, DLG2, EED, FAM181B, FOLH1B, FZD4, GRM5, HIKESHI, ME3, NAALAD2, NOX4, PCF11, PICALM, PRCP, PRSS23, RAB30, RAB38, SYTL2, TMEM126A, TMEM126B, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TYR, UBTFL1 1 0 0 0 0 0 1
APBA2, FAM189A1, GOLGA8M, NSMCE3, TJP1 1 0 0 0 0 0 1
ARHGAP6, FRMPD4, MSL3 0 1 0 0 0 0 1
ARHGAP6, MSL3 0 1 0 0 0 0 1
ARX 1 0 0 0 0 0 1
ATRX 1 1 0 0 0 0 1
BPTF 1 0 0 0 0 0 1
BRF1 0 0 1 0 0 0 1
BRPF1 1 0 0 0 0 0 1
BRWD3 1 0 0 0 0 0 1
CDH15 0 0 0 1 0 0 1
CUL4B 1 0 0 0 0 0 1
DDOST 0 0 1 0 0 0 1
DLG3 1 0 0 0 0 0 1
DSCAM 0 0 0 1 0 0 1
EEF1A2 1 0 0 0 0 0 1
EP300 0 0 0 1 0 0 1
FOXG1 0 0 0 1 0 0 1
GATAD2B 0 1 0 0 0 0 1
GJC2 1 0 0 0 0 0 1
GRIA3 1 0 0 0 0 0 1
GRIK2 0 1 0 0 0 0 1
HCFC1 1 0 0 0 0 0 1
HNRNPU 0 1 0 0 0 0 1
IL1RAPL1 1 0 0 0 0 0 1
INCA1, KIF1C 1 0 0 0 0 0 1
JAKMIP1 0 0 1 0 0 0 1
KAT6B 0 0 0 1 0 0 1
KCNQ2 0 1 0 0 0 0 1
KMT2D 0 0 0 1 0 0 1
LARP7 0 1 0 0 0 0 1
LRRC7 0 0 1 0 0 0 1
MED12 0 1 0 0 0 0 1
MIAT, MN1, PITPNB, TTC28 0 0 1 0 0 0 1
MPZ 0 1 0 0 0 0 1
NLGN3 0 1 0 0 0 0 1
NRXN1 1 0 0 0 0 0 1
PACS2 0 1 0 0 0 0 1
PAK3 0 1 0 0 0 0 1
PHF21A 0 0 1 0 0 0 1
PHF8 1 0 0 0 0 0 1
PPP2R5C 0 1 0 0 0 0 1
PUM1 0 0 1 0 0 0 1
RAI1 1 0 0 0 0 0 1
SATB2 0 1 0 0 0 0 1
SEMA5A 0 0 1 0 0 0 1
SHANK2 0 0 1 0 0 0 1
SHANK3 1 0 0 0 0 0 1
SLC16A2 1 0 0 0 0 0 1
SLC6A1 0 0 0 1 0 0 1
SMARCA2 0 0 0 1 0 0 1
SMC3 0 1 0 0 0 0 1
SNHG14, UBE3A 1 0 0 0 0 0 1
SPR 1 0 0 0 0 0 1
SRGAP2 0 0 1 0 0 0 1
SYNGAP1 1 0 0 0 0 0 1
TPR 0 0 1 0 0 0 1
USP27X 1 0 0 0 0 0 1
ZMYND11 0 0 0 0 0 1 1
ZMYND8 0 0 1 0 0 0 1
ZNF292 1 0 0 0 0 0 1
ZNF711 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 23 7 4 0 35
Diagnostic Laboratory,Strasbourg University Hospital 26 2 1 0 0 0 29
Raymond Lab,University of Cambridge 14 14 0 0 0 0 28
CHU Sainte-Justine Research Center,University of Montreal 0 23 0 0 0 0 23
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 22 0 0 22
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 13 4 0 0 0 0 17
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 7 9 0 0 0 0 16
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 14 0 0 0 0 14
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 5 0 0 0 7
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 4 0 0 0 6
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 3 3 0 0 0 0 6
Baylor Genetics 2 0 3 0 0 0 5
Lars Feuk Lab,Uppsala University 0 0 5 0 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 1 0 0 0 4
Medical Genetics Department,University Hospital Nantes, CHU Nantes 4 0 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 3 0 0 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
University Hospital of Lyon,Hospices Civils de Lyon 1 0 0 0 0 0 1

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