ClinVar Miner

Variants studied for sulfur metabolism disease

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
1366 1029 3888 5825 929 48 12269

Gene and significance breakdown #

Total genes and gene combinations: 92
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CBS 157 201 302 530 52 6 1111
HCFC1 6 1 115 672 255 0 1035
MTR 58 31 199 574 66 0 915
HLCS 91 119 265 430 50 0 872
MTRR 76 30 159 481 50 1 779
MTHFR 140 58 166 413 38 3 752
GPHN 50 23 294 277 17 0 657
MOCS1 53 39 345 201 36 1 639
BTD 167 169 194 200 14 6 605
DLD 57 79 122 294 38 0 551
SUOX 64 22 199 181 13 7 451
MMACHC 95 75 112 190 10 3 430
LMBRD1 28 22 110 235 24 2 407
OPLAH 17 9 142 125 54 0 332
GSS 32 13 75 198 8 0 314
LIAS 20 8 151 124 11 4 308
MMADHC 42 30 62 169 17 7 306
ABCD4 18 10 116 112 33 0 279
MAT1A 27 12 163 74 20 0 276
AHCY 8 4 115 112 17 0 238
IBA57 26 12 86 69 9 0 198
NFU1 8 6 49 29 9 0 93
MOCS2 13 8 38 5 8 0 67
LOC129930446, MMACHC 23 12 14 18 0 0 57
CTH 4 1 42 6 4 0 56
ADK 2 3 23 5 8 0 40
LOC126860980, MAT1A 0 1 27 5 6 0 39
GSR 3 2 24 3 3 0 35
ITGA2, MOCS2 0 0 5 15 15 0 34
HCFC1, LOC130068842 0 0 4 14 12 0 30
LIAS, LOC112939935 0 0 22 5 0 0 27
BOLA3 4 4 19 2 0 0 26
DAAM2, MOCS1 0 0 15 4 4 0 23
GCLC 2 0 19 0 0 0 21
PMPCB 5 3 11 1 1 0 21
GPHN, LOC126861970 0 1 8 11 0 0 20
LOC129932886, MTR 1 1 2 13 0 0 17
MECR 8 0 6 0 3 2 17
LIPT1, MITD1 6 5 4 0 2 1 16
LOC129934004, NFU1 1 0 8 6 2 0 16
LOC126806368, MMADHC 1 1 2 8 2 0 14
ISCA2 3 2 6 0 0 3 10
LOC129993881, MOCS2 2 3 6 0 0 0 10
DLD, LOC129999127 0 0 2 7 0 0 9
GSR, LOC130000170 0 1 4 1 4 0 9
LOC111982876, MAT1A 0 0 5 1 3 0 9
FDXR 8 0 0 0 0 0 8
GPX4 4 3 3 0 0 0 8
HLCS, LOC130066639 0 0 1 0 6 0 7
GCSH 6 0 0 0 0 0 6
MMACHC, PRDX1 4 0 1 0 0 0 5
ADK, LOC102723439 1 1 0 1 2 0 4
CNPY3-GNMT, GNMT 3 0 1 0 0 0 4
GLRX5 3 0 1 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 4
LOC129999056, PMPCB 0 1 3 0 0 0 4
GGT1 1 0 1 0 1 0 3
ANXA11, MAT1A, PLAC9, SFTPD, TMEM254 1 0 1 0 0 0 2
ARF1, C1orf35, GJC2, GUK1, IBA57, MRPL55, OBSCN, WNT3A 1 0 1 0 0 0 2
BOLA3, TET3 0 0 2 0 0 0 2
CTH, LOC129930756 0 0 1 1 0 0 2
ISCA1, LOC130001967 1 0 1 0 0 1 2
TSEN54 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 1 0 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, C20orf173, CBFA2T2, CDK5RAP1, CEP250, CHMP4B, CPNE1, DNMT3B, DYNLRB1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ERGIC3, FAM83C, GDF5, GGT7, GSS, ITCH, MAP1LC3A, MAPRE1, MIR499A, MMP24, MYH7B, NCOA6, NECAB3, NFS1, PIGU, PROCR, PXMP4, RALY, RBM12, SNTA1, SPAG4, SUN5, TP53INP2, TRPC4AP, UQCC1, ZNF341 1 0 0 0 0 0 1
ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, CBFA2T2, CDK5RAP1, CHMP4B, E2F1, EIF2S2, ITCH, NECAB3, PXMP4, RALY, SNTA1, SUN5, ZNF341 1 0 0 0 0 0 1
APBB2, CHRNA9, FAM114A1, KLB, KLHL5, LIAS, LIMCH1, N4BP2, NSUN7, PDS5A, PHOX2B, RBM47, RFC1, RHOH, RPL9, SMIM14, TLR1, TLR10, TLR6, TMEM156, UBE2K, UCHL1, UGDH, WDR19 0 0 1 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 1
FDXR, LOC112533667 1 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
GCSH, LOC130059495 1 0 0 0 0 0 1
GPHN, LOC129390637, LOC130055881, LOC130055882, LOC130055883, LOC130055884, LOC130055885, LOC130055886, LOC130055887, LOC130055888, LOC132090246, LOC132090247, LOC132090248, LOC132090249, LOC132090250 1 0 0 0 0 0 1
ISCA1 1 1 1 0 0 1 1
KLB, LIAS, RPL9 0 0 1 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 1
MIR6846, OPLAH 0 0 0 1 0 0 1
MLKL 0 0 0 1 0 0 1
PRDX1 0 0 0 0 1 0 1
THAP1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 151
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1026 319 2789 5638 752 0 10523
Illumina Laboratory Services, Illumina 16 5 665 112 188 0 985
Natera, Inc. 83 22 259 111 84 0 559
Baylor Genetics 206 282 70 0 0 0 558
Counsyl 38 169 123 6 0 0 336
Fulgent Genetics, Fulgent Genetics 57 30 133 69 8 0 297
Revvity Omics, Revvity 50 40 149 2 0 0 241
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 153 87 0 0 0 0 240
Genome-Nilou Lab 35 27 67 26 81 0 236
OMIM 231 0 0 0 0 0 231
Myriad Genetics, Inc. 14 81 6 0 0 0 101
Neuberg Centre For Genomic Medicine, NCGM 10 21 35 0 0 0 66
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 2 11 8 31 0 61
Mendelics 21 14 6 8 5 0 54
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 16 15 16 0 2 0 49
University Children's Hospital, University of Zurich 48 0 0 0 0 0 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 23 4 17 0 0 0 44
3billion 10 9 6 5 0 0 30
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 8 10 1 0 0 29
GeneReviews 2 0 0 0 0 25 27
Juno Genomics, Hangzhou Juno Genomics, Inc 12 6 9 0 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 11 0 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 4 4 0 0 0 18
New York Genome Center 3 4 10 0 0 0 17
Elsea Laboratory, Baylor College of Medicine 5 1 9 0 0 0 15
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 7 1 0 0 0 15
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 6 2 0 0 0 15
Pars Genome Lab 0 0 1 3 11 0 15
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 7 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 5 3 5 1 0 0 14
MGZ Medical Genetics Center 4 6 3 0 0 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 3 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 8 0 12
Laboratory of Metabolic Disorders, Peking University First Hospital 0 1 10 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 3 0 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 2 3 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 6 1 3 0 0 0 10
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 8 1 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Child Health and Human Development Program, Research Institute of the McGill University Health Center 9 0 0 0 0 0 9
Suma Genomics 5 3 1 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 4 1 3 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 2 0 0 0 8
SingHealth Duke-NUS Institute of Precision Medicine 3 3 2 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
DASA 8 0 0 0 0 0 8
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 6 6
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 3 3 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 4 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 2 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 3 0 0 0 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 4 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 3 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 4 0 0 0 5
Arcensus 1 4 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 1 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 4
Hadassah Hebrew University Medical Center 2 2 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 1 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 2 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 3 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 2 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 1 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 1 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 1 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 1 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 2 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 1 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 2
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Sidra Medicine 0 0 0 1 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital 0 1 0 0 0 0 1
Child Neurology, Ann And Robert H. Lurie Children's Hospital 0 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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