ClinVar Miner

Variants studied for anorectal malformation

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
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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 risk factor not provided total
650 236 1827 536 200 2 2 3366

Gene and significance breakdown #

Total genes and gene combinations: 100
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RECQL4 60 18 833 72 8 0 0 990
KMT2D 176 137 222 128 28 0 2 641
FRAS1 15 2 181 65 45 0 0 302
FREM2 6 1 163 33 30 0 0 232
GLI3 44 1 84 76 22 0 0 220
SALL1 24 3 39 36 15 0 0 111
DYNC2H1 84 18 7 0 3 0 0 108
MED12 7 5 72 20 3 0 0 107
TBX3 7 0 40 36 15 0 0 97
GRIP1 2 0 50 8 7 0 0 66
FOXC1 23 6 14 1 1 0 0 44
KDM6A 17 14 9 3 0 0 0 43
PITX2 19 3 11 9 1 0 0 43
FANCB 0 0 11 13 6 0 0 30
TBX1 5 0 22 0 2 0 0 28
MID1 17 5 3 0 1 0 0 25
SALL4 18 0 3 0 2 0 0 23
WDR35 10 5 7 0 1 0 0 22
WDR60 9 1 7 1 5 0 0 22
WDR34 13 0 2 2 2 0 0 19
PQBP1 10 0 3 4 1 0 0 17
PTEN 4 1 11 0 0 0 0 16
ZIC3 2 0 5 9 0 0 0 15
KIFBP 1 0 9 0 2 0 0 12
MNX1 11 0 0 0 0 0 0 11
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 5 1 0 0 0 0 0 6
PHOX2B 2 0 2 0 0 2 0 6
UBR1 6 0 0 0 0 0 0 6
CCNQ 5 0 0 0 0 0 0 5
HCCS 4 1 0 0 0 0 0 5
COX7B 3 0 1 0 0 0 0 4
DDN, KMT2D 0 0 1 3 0 0 0 4
FREM1 3 0 1 0 0 0 0 4
SPECC1L, SPECC1L-ADORA2A 2 2 0 0 0 0 0 4
HSPA9 3 0 0 0 0 0 0 3
KLLN, PTEN 0 0 3 0 0 0 0 3
NDUFB11 2 0 1 0 0 0 0 3
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 2 0 0 0 0 0 0 2
DACT1 1 0 0 1 0 0 0 2
KMT2A 2 0 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 0 2
NEK1 2 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 1
ABCC5, ABCF3, ACTL6A, ALG3, AP2M1, ATP11B, B3GNT5, C3orf70, CAMK2N2, CCDC39, CHRD, CLCN2, DCUN1D1, DNAJC19, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF4G1, EPHB3, FAM131A, FXR1, GNB4, HTR3C, HTR3D, HTR3E, IGF2BP2, KCNMB2, KCNMB3, KLHL24, KLHL6, LAMP3, LINC00888, LINC01014, LINC01206, LINC01839, LINC01840, LINC01994, LINC01995, LINC02015, LINC02031, LINC02053, LINC02054, LINC02069, LIPH, LOC101928739, LOC101928882, LOC102724604, LOC107986163, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC112935913, LOC114004376, LOC115995533, LOC115995534, LOC115995535, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MFN1, MIR1224, MIR4448, MIR5588, MRPL47, NDUFB5, PARL, PEX5L, PIK3CA, POLR2H, PSMD2, SENP2, SNORA63D, SNORA63E, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, THPO, TMEM41A, TTC14, USP13, VPS8, VWA5B2, YEATS2, ZMAT3, ZNF639 0 1 0 0 0 0 0 1
ABR, BHLHA9, TRARG1, YWHAE 0 0 0 1 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18 1 0 0 0 0 0 0 1
ADA2, CECR3, GAB4, HDHD5, IL17RA, TMEM121B, XKR3 1 0 0 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FAM207A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SPATC1L, YBEY 1 0 0 0 0 0 0 1
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 0 1
AGMO 0 0 0 1 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 0 1 0 0 0 1
ANKS1B, UHRF1BP1L 0 0 0 1 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 0 1
AXIN1 1 0 0 0 0 0 0 1
B3GNTL1, METRNL, TBCD 0 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 0 1
BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 1 0 0 0 0 0 0 1
CCDC74A, MZT2A, TUBA3D 0 0 0 1 0 0 0 1
CDH13 0 1 0 0 0 0 0 1
CDX2 0 1 0 0 0 0 0 1
CHST5 0 0 0 1 0 0 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 0 1
CNTNAP2 0 0 0 1 0 0 0 1
CTNNB1 0 1 0 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 0 1
DNAJC15, EPSTI1 0 0 0 1 0 0 0 1
DNMT3B 0 0 1 0 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 0 0 1
FAM170A 0 1 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 0 1
FBP1, FBP2 0 0 0 1 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 0 1
FOXF1 0 1 0 0 0 0 0 1
FXYD4, HNRNPF 0 1 0 0 0 0 0 1
GABRG3 0 0 1 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 0 1
GPC5 0 0 0 1 0 0 0 1
HCFC1 0 0 1 0 0 0 0 1
HOXD13 0 0 1 0 0 0 0 1
INTU 1 0 0 0 0 0 0 1
KMT2B 0 0 1 0 0 0 0 1
NALCN 0 0 0 1 0 0 0 1
NREP 0 0 0 1 0 0 0 1
PARM1 0 0 0 1 0 0 0 1
PRDM5 0 0 1 0 0 0 0 1
PTCH1 0 1 0 0 0 0 0 1
SLC9A4 0 0 1 0 0 0 0 1
SMYD3 0 0 0 1 0 0 0 1
SORCS1 0 0 0 1 0 0 0 1
SPTAN1, WDR34 1 0 0 0 0 0 0 1
TBXAS1 0 0 1 0 0 0 0 1
TCTEX1D2 1 0 0 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 0 1
ZBTB24 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 184 43 1007 108 40 0 0 1382
Illumina Clinical Services Laboratory,Illumina 0 0 631 381 136 0 0 1146
Center for Human Genetics, Inc 23 99 42 23 1 0 0 188
OMIM 174 0 2 0 0 2 0 178
Genetic Services Laboratory, University of Chicago 54 7 36 0 0 0 0 97
Fulgent Genetics,Fulgent Genetics 10 1 78 0 0 0 0 89
Dan Cohn Lab,University Of California Los Angeles 71 2 2 0 0 0 0 75
Mendelics 9 2 13 9 17 0 0 50
GeneReviews 46 0 0 0 0 0 0 46
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 39 0 0 42
Molecular Pathology, SA Pathology 20 1 5 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 17 0 0 23
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 2 5 0 15 0 0 0 22
Baylor Genetics 14 2 4 0 0 0 0 20
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 0 19
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 12 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 9 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 0 0 0 0 11
Institute of Human Genetics,Klinikum rechts der Isar 6 4 0 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 3 2 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 2 2 0 0 0 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 2 0 0 0 0 8
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 3 0 0 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 2 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 5 0 0 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 6 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 0 0 0 0 6
Clinical Genetics, Erasmus University Medical Center 0 0 6 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 0 0 0 0 0 0 6
Institute of Human Genetics,University of Goettingen 2 2 1 0 0 0 0 5
University of Washington Center for Mendelian Genomics,University of Washington 0 5 0 0 0 0 0 5
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 5 0 0 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 0 1 0 0 0 4
Paul Sabatier University EA-4555, Paul Sabatier University 0 1 0 3 0 0 0 4
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 2 0 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 2 0 0 0 0 4
Clinical Genetics Research Group,Karolinska Institutet 1 0 3 0 0 0 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 2 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 2 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 1 0 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 1 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 1 0 1 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 0 1

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