ClinVar Miner

Variants studied for amino acid metabolism disease

Included ClinVar conditions (156):
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 affects association other not provided total
1486 1136 3076 845 704 8 2 2 136 6757

Gene and significance breakdown #

Total genes and gene combinations: 143
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
PAH 169 225 103 21 12 0 0 0 4 446
GLDC 39 119 132 40 36 0 0 0 0 319
LYST 44 3 216 60 32 0 0 0 0 319
SLC22A5 53 60 103 25 16 0 0 0 104 269
CBS 32 68 118 47 21 0 0 0 1 252
CPS1 16 40 111 22 25 0 0 0 1 199
DBT 23 19 95 19 16 0 0 0 0 162
BCKDHB 37 58 45 7 25 0 0 0 0 155
ABAT 15 0 78 35 32 0 0 0 1 151
ASS1 40 51 71 10 8 0 0 0 1 150
HLCS 14 21 92 15 20 0 0 0 0 149
ALDH5A1 13 1 85 33 15 0 0 0 2 140
BCKDHA 43 28 42 15 8 0 0 0 0 117
SLC7A7 18 41 45 8 8 0 0 0 0 110
HPS4 12 1 75 11 10 0 0 0 0 107
MMACHC 36 28 42 2 3 0 0 0 2 104
TH 14 31 54 7 4 0 0 0 1 104
HPS1 25 1 46 14 18 0 0 0 0 100
OCA2 26 30 32 7 7 0 0 0 2 100
OAT 37 36 24 5 5 0 0 0 0 99
HPS5 21 0 53 16 6 0 0 0 0 93
AP3B1 13 0 60 14 23 0 0 0 0 92
TYR 58 35 12 2 3 0 0 1 2 91
AMT 16 30 43 6 7 0 0 0 0 90
SLC6A8 21 0 18 20 29 0 0 0 1 89
MOCS1 5 2 52 29 2 0 0 0 0 88
HGD 17 28 38 4 1 0 0 0 0 86
ADSL 14 4 52 13 8 0 0 0 0 82
DLD 14 19 36 6 11 0 0 0 0 82
MAT1A 12 0 48 9 13 0 0 0 0 82
ALDH4A1 4 3 53 19 13 0 0 0 0 81
GCH1 14 4 34 21 11 0 0 0 0 80
GAMT 10 1 48 18 7 0 0 0 0 79
FAH 22 38 14 3 8 0 0 1 0 77
OTC 40 14 16 8 7 0 0 0 0 77
RAB27A 15 4 36 8 17 0 0 0 0 77
HAL 0 0 57 9 4 4 0 0 0 74
SLC25A13 23 2 42 4 6 0 0 0 1 74
MTHFR 53 3 7 0 3 0 0 0 3 69
MCCC1 29 4 30 2 1 0 0 0 1 66
SLC1A1, SPATA6L 2 0 45 7 8 0 0 0 0 62
SLC7A9 18 3 28 11 1 0 0 0 0 59
GATM 6 0 27 13 10 0 0 0 0 54
PSPH 3 0 34 6 8 0 0 0 0 51
GPHN 4 4 22 13 6 0 0 0 0 48
SUOX 10 2 31 3 1 0 0 0 0 44
CP, HPS3 3 1 27 8 4 0 0 0 0 43
PHGDH 12 1 26 3 5 0 0 0 0 43
ALDH18A1 8 3 17 5 8 0 0 0 1 41
CTH 4 1 27 9 0 0 0 0 0 41
HPS3 5 1 27 5 3 0 0 0 0 39
ALDH6A1, BBOF1 5 1 22 6 5 0 0 0 0 38
BLOC1S6 1 0 27 6 7 0 0 0 0 38
SLC3A1 9 2 22 1 3 0 0 0 0 37
HPD 8 0 9 11 10 0 0 0 0 35
HPS6 11 3 16 5 1 0 0 0 0 34
AHCY 2 0 23 2 7 0 0 0 0 33
BLOC1S3 2 0 19 12 0 0 0 0 0 33
DTNBP1 2 0 23 5 2 0 0 0 0 32
PSAT1 6 0 19 4 4 0 0 0 0 32
SLC45A2 12 4 14 1 0 0 0 0 0 30
LURAP1L, TYRP1 5 5 15 0 6 0 0 0 0 29
MTR 11 0 7 2 10 0 0 0 0 29
MOCS2 10 1 16 2 0 0 0 0 0 27
ITGA2, MOCS2 0 0 3 14 9 0 0 0 0 26
TAT 5 13 8 1 0 0 0 0 0 26
MTRR 7 0 6 0 8 0 0 0 0 21
PRODH 6 1 9 3 7 0 0 0 0 21
ATP6V0A2 14 1 4 0 2 0 0 0 0 20
QDPR 9 1 4 4 3 0 0 0 0 20
ADK 2 0 14 1 2 0 0 0 0 19
APRT 11 0 7 0 1 0 0 0 0 19
HCFC1 6 0 5 2 6 0 0 0 0 19
MMADHC 11 0 1 2 5 0 0 0 0 19
TYRP1 2 2 12 3 0 0 0 0 0 19
ALDH5A1, GPLD1 1 0 7 9 2 0 0 0 0 18
GCSH 1 1 6 3 6 0 0 0 0 17
ABCD4 5 0 6 1 4 0 0 0 0 16
APRT, GALNS 0 0 1 8 6 0 0 0 0 15
DHTKD1 7 3 5 0 0 0 0 0 1 15
PREPL, SLC3A1 3 2 8 0 2 0 0 0 0 15
AMT, NICN1 1 5 8 1 0 0 0 0 0 14
GPR143 10 4 0 0 0 0 0 0 0 14
PYCR1 13 0 1 0 0 0 0 0 0 14
DAAM2, MOCS1 0 0 7 4 2 0 0 0 0 13
LMBRD1 4 0 2 3 3 0 0 0 1 13
SPR 10 0 3 0 0 0 0 0 0 13
ABCC6 11 0 1 0 0 0 0 0 0 12
HIBCH 9 4 1 0 0 0 0 0 0 12
MIR3936HG, SLC22A5 0 1 3 4 3 0 0 0 6 12
MC1R 0 6 6 0 0 0 0 0 0 11
LOC111982876, MAT1A 0 0 7 2 1 0 0 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 0 0 9
MAOA 4 1 2 0 2 0 0 0 0 9
AASS 7 0 1 0 0 0 0 0 0 8
ABHD14A-ACY1, ACY1 7 1 1 0 0 0 0 0 0 8
BCKDK 3 1 3 0 0 0 0 0 0 7
GAMT, NDUFS7 0 0 0 4 4 0 0 0 0 7
INS, INS-IGF2, TH 0 0 0 2 5 0 0 0 0 7
MYO5A 4 0 1 0 1 0 0 0 0 6
SLC1A1 0 0 6 0 0 0 0 0 0 6
SLC1A4 5 0 1 0 0 0 0 0 0 6
SLC6A9 4 0 0 0 2 0 0 0 0 6
BLOC1S3, TRAPPC6A 0 0 1 4 0 0 0 0 0 5
PPM1K 1 0 1 0 3 0 0 0 0 5
SLC6A19 4 0 1 0 0 0 0 0 0 5
INS, TH 0 0 1 3 0 0 0 0 0 4
SARDH 0 0 0 0 0 4 0 0 0 4
ADK, LOC102723439 1 0 1 1 0 0 0 0 0 3
CNPY3-GNMT, GNMT 3 0 0 0 0 0 0 0 0 3
DGCR6, HSERVPRODH, PRODH 2 0 1 0 0 0 0 0 0 3
DGCR6, PRODH 2 0 0 0 2 0 0 0 0 3
DMGDH 1 0 2 0 0 0 0 0 0 3
DNAJC12 3 0 0 0 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 0 0 3
UROC1 2 0 1 0 0 0 0 0 0 3
​intergenic 2 0 0 0 0 0 0 0 0 2
ATP6V1A 2 0 0 0 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 0 2
GLDC, LOC113839554 1 1 0 0 0 0 0 0 0 2
LOC110121427, LRMDA 1 0 0 1 0 0 0 0 0 2
LRMDA 1 1 0 0 0 0 0 0 0 2
MMACHC, PRDX1 2 0 0 0 0 0 0 0 0 2
TDO2 2 0 0 0 0 0 0 0 0 2
ACOX3, BOD1L1, BST1, C1QTNF7, CC2D2A, CD38, CLNK, CPEB2, CPEB2-DT, CPZ, DEFB131A, DRD5, FAM200B, FAM90A26, FBXL5, FGFBP1, FGFBP2, GPR78, HMX1, HS3ST1, LDB2, LINC00504, LINC01085, LINC01096, LINC01097, LINC01182, LINC02270, LINC02360, LINC02493, LOC101929095, LOC110120633, LOC110120784, LOC111828517, LOC112939924, LOC112997536, LOC114827818, MIR12113, MIR3138, MIR5091, MIR548I2, MIR572, NKX3-2, PROM1, QDPR, RAB28, SLC2A9, SNORA75B, TAPT1, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, WDR1, ZNF518B 1 0 0 0 0 0 0 0 0 1
ALDH6A1 0 0 1 0 0 0 0 0 0 1
AP3D1 1 0 0 0 0 0 0 0 0 1
ARMC5, BCKDK, BCL7C, C16orf58, CCDC189, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 0 1
CEP89, SLC7A9 0 1 0 0 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC101928414, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 0 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010 0 0 1 0 0 0 0 0 0 1
HPS1, LOC101927278 0 0 1 0 0 0 0 0 0 1
HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 0 1
KYNU 1 0 0 0 0 0 0 0 0 1
MLPH 1 0 0 0 0 0 0 0 0 1
MYEF2, SLC24A5 0 0 0 0 0 0 1 0 0 1
NRL 0 0 1 0 0 0 0 0 0 1
PKHD1 0 1 0 0 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 0 0 0 1
SLC24A5 0 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
Illumina Clinical Services Laboratory,Illumina 71 15 1862 487 313 0 0 0 0 2748
Invitae 328 65 747 284 358 0 0 1 0 1783
Counsyl 140 621 393 25 5 0 0 0 0 1184
OMIM 731 0 0 0 4 8 2 0 0 745
GeneReviews 210 0 0 0 13 0 0 0 0 223
Fulgent Genetics 99 25 70 0 0 0 0 0 0 194
Integrated Genetics/Laboratory Corporation of America 141 33 0 0 0 0 0 0 0 174
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 168 0 0 0 0 0 0 0 169
ClinGen PAH Variant Curation Expert Panel, 68 49 31 3 7 0 0 0 0 158
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 94 15 1 0 0 0 0 0 0 110
ARUP Institute,ARUP Laboratories 0 0 0 0 0 0 0 0 110 110
Genetic Services Laboratory, University of Chicago 59 28 0 0 0 0 0 1 0 88
Genomic Research Center,Shahid Beheshti University of Medical Sciences 30 15 23 0 0 0 0 0 0 68
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 0 0 0 7 55
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 2 0 16 31 0 0 0 0 53
University Children's Hospital, University of Zurich 48 0 0 0 0 0 0 0 0 48
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 2 1 21 15 0 0 0 0 43
Genome Diagnostics Laboratory,University Medical Center Utrecht 11 0 1 17 10 0 0 0 0 39
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 22 10 1 0 0 0 0 0 0 33
University of Washington Center for Mendelian Genomics,University of Washington 0 32 0 0 0 0 0 0 0 32
SingHealth Duke-NUS Institute of Precision Medicine 8 4 9 2 1 0 0 0 0 24
Department of Genetics,Sultan Qaboos University Hospital, Oman 13 5 5 0 0 0 0 0 0 23
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 21 0 0 0 0 0 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 17 17
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 6 7 0 1 0 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 15 0 0 0 0 0 0 16
Division of Human Genetics,Children's Hospital of Philadelphia 5 6 2 0 0 0 0 0 0 13
Knight Diagnostic Laboratories,Oregon Health and Sciences University 5 7 1 0 0 0 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 7 1 0 0 0 0 0 0 12
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 7 0 0 0 0 12
Baylor Miraca Genetics Laboratories, 9 0 2 0 0 0 0 0 0 11
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 4 4 3 0 0 0 0 0 0 11
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 0 0 0 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology 8 0 2 0 0 0 0 0 0 10
SIB Swiss Institute of Bioinformatics 0 7 0 1 2 0 0 0 0 10
Molecular Diagnostics Laboratory,M Health: University of Minnesota 5 5 0 0 0 0 0 0 0 10
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 0 6 0 0 0 0 0 0 9
NIHR Bioresource Rare Diseases,University of Cambridge 1 8 0 0 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 5 3 0 0 0 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 5 0 0 0 0 0 0 0 8
Science and Research Branch, Islamic Azad University,Islamic Azad University 3 4 0 0 0 0 0 0 0 7
Elsea Laboratory,Baylor College of Medicine 6 0 0 0 0 0 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 1 3 2 0 0 0 0 0 6
Bonnen Lab,Baylor College of Medicine 6 0 0 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 0 6 0 0 0 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 0 0 0 6
Blood Cell Research,Sanquin 5 0 0 0 0 0 0 0 0 5
Mendelics 1 2 0 1 0 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 2 0 0 0 0 0 0 0 4
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 0 0 2 4
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 0 0 0 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 2 0 0 0 0 0 0 4
Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University 0 4 0 0 0 0 0 0 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 1 0 0 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 0 0 0 0 0 0 0 3
Phosphorus, Inc. 0 0 0 0 3 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 2 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 2 0 0 0 0 0 0 3
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 0 0 0 3
Biochemistry Laboratory of CDMU,Chengde Medical University 3 0 0 0 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 2 0 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 0 0 2
GOLD service, Hunter New England Health 2 0 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 0 0 0 2
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 1 0 0 0 0 2
TIDEX,University of British Columbia 0 0 2 0 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 0 2
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 2 0 0 0 0 0 0 0 2
Fan Lab,Zhengzhou University 0 2 0 0 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 0 0 0 0 0 0 2
Genetics - Viapath,Viapath, Guy's Hospital 0 0 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases,Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 0 0 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 1 0 0 0 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Kasturba Medical College,Manipal University 0 0 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 0 1
National Reference Laboratory of Biochemistry,Pasteur Institute of Iran 1 0 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 0 0 0 1
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 1 0 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab,McGill University Health Centre 1 0 0 0 0 0 0 0 0 1

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