ClinVar Miner

Variants studied for anorectal malformation

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
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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
568 205 1538 742 329 2 2 3288

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RECQL4 44 9 637 247 64 0 0 1001
KMT2D 133 131 206 128 34 0 2 579
FRAS1 15 2 181 65 44 0 0 301
FREM2 6 0 163 33 29 0 0 230
GLI3 39 1 76 80 38 0 0 217
MED12 7 4 46 36 25 0 0 118
SALL1 21 0 34 37 18 0 0 103
DYNC2H1 83 14 5 0 0 0 0 98
TBX3 7 0 40 36 16 0 0 97
GRIP1 2 0 50 8 7 0 0 66
FOXC1 22 6 10 4 6 0 0 47
PITX2 16 3 10 9 3 0 0 40
KDM6A 14 10 7 1 1 0 0 33
FANCB 0 0 11 13 6 0 0 30
WDR60 9 1 5 3 12 0 0 30
WDR35 11 4 4 5 4 0 0 27
TBX1 4 0 12 1 9 0 0 25
MID1 17 5 2 0 0 0 0 24
SALL4 18 0 1 1 4 0 0 24
WDR34 12 0 2 3 6 0 0 23
PTEN 4 1 11 0 0 0 0 16
PQBP1 8 0 3 3 1 0 0 15
ZIC3 2 0 5 9 0 0 0 15
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
KIFBP 1 0 3 0 2 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
DDN, KMT2D 0 0 1 3 0 0 0 4
FREM1 3 0 1 0 0 0 0 4
COX7B 3 0 0 0 0 0 0 3
HSPA9 3 0 0 0 0 0 0 3
KLLN, PTEN 0 0 3 0 0 0 0 3
SPECC1L, SPECC1L-ADORA2A 2 1 0 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, 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
NDUFB11 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, 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
AGMO 0 0 0 1 0 0 0 1
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 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
CCDC74A, MZT2A, TUBA3D 0 0 0 1 0 0 0 1
CDH13 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
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
LOC110120888, TBX1 1 0 0 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
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
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: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 122 28 755 328 191 0 0 1424
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 10 1 78 0 0 0 0 89
Dan Cohn Lab,University Of California Los Angeles 71 2 2 0 0 0 0 75
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
Reutter Lab, Institute of Human Genetics,University Hospital Bonn 2 5 0 15 0 0 0 22
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 0 19
Baylor Miraca Genetics Laboratories, 13 1 4 0 0 0 0 18
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 0 8
Laboratoire de Cytogenetique,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
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 0 1 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
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 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
Institute of Human Genetics,Klinikum rechts der Isar 2 1 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,Institute of Human Genetics 1 2 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 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
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 2 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 1 0 0 0 0 0 0 1
Mendelics 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
HudsonAlpha Institute for Biotechnology 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 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
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 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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