ClinVar Miner

Variants studied for amino acid metabolism disease

Included ClinVar conditions (161):
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
2605 1670 6732 3134 1376 8 2 2 152 14192

Gene and significance breakdown #

Total genes and gene combinations: 162
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
LYST 54 7 615 176 55 0 0 0 0 852
PAH 385 331 230 92 25 0 0 0 3 845
GLDC 138 166 292 220 48 0 0 0 0 742
CPS1 50 87 221 159 57 0 0 0 1 524
SLC22A5 103 79 242 94 23 0 0 0 104 504
CBS 78 82 203 141 31 0 0 0 2 467
ASS1 75 76 126 92 24 0 0 0 1 328
TH 28 48 157 123 17 0 0 0 1 327
ALDH5A1 31 4 186 59 35 0 0 0 2 302
ABAT 15 1 175 52 55 0 0 0 1 287
SLC7A7 51 41 114 89 15 0 0 0 0 284
ASL 61 52 92 95 19 0 0 0 0 272
SLC6A8 40 6 65 101 54 0 0 0 9 266
FAH 57 61 88 77 27 0 0 1 0 264
AP3B1 17 0 185 59 31 0 0 0 0 262
MCCC1 55 14 121 57 11 0 0 0 1 244
GAMT 32 13 129 75 7 0 0 0 4 243
ADSL 28 12 165 31 8 0 0 0 0 232
SLC25A13 53 19 95 72 14 0 0 0 1 228
OTC 87 41 51 37 16 0 0 0 0 221
AMT 41 40 99 62 8 0 0 0 0 219
MTHFR 75 18 34 83 17 0 0 0 3 219
OAT 53 42 84 50 13 0 0 0 0 219
MTRR 31 8 42 94 29 0 0 0 0 198
MMACHC 66 43 63 45 5 0 0 0 3 195
HPS1 29 18 96 12 40 0 0 0 0 182
SLC25A15 28 9 95 41 22 0 0 0 0 178
GCH1 54 6 84 22 31 0 0 0 0 171
OCA2 31 39 80 5 21 0 0 0 2 167
HGD 36 40 52 38 15 0 0 0 0 166
PHGDH 22 11 64 71 14 0 0 0 0 166
RAB27A 27 7 97 17 26 0 0 0 0 166
ALDH18A1 20 6 100 28 18 0 0 0 1 165
ATP6V0A2 13 1 99 9 42 0 0 0 0 163
HPS4 12 2 112 19 21 0 0 0 0 162
GATM 7 0 102 31 14 0 0 0 0 151
NAGS 18 6 45 77 13 0 0 0 1 146
ARG1, MED23 33 17 61 42 4 0 0 0 1 145
TAT 12 14 59 53 8 0 0 0 0 139
ALDH4A1 5 4 100 18 33 0 0 0 0 136
HPS5 22 2 77 12 21 0 0 0 0 130
TYR 64 41 32 2 5 0 0 1 2 121
HAL 0 0 90 12 11 4 0 0 0 117
MTR 20 6 56 18 20 0 0 0 0 116
HCFC1 6 0 48 31 29 0 0 0 0 113
SLC1A1, SPATA6L 2 0 87 6 18 0 0 0 0 113
SLC3A1 21 6 72 10 11 0 0 0 0 105
MMADHC 18 5 34 27 15 0 0 0 0 91
HPS3 7 7 56 12 12 0 0 0 0 89
SLC7A9 19 7 48 4 12 0 0 0 0 85
HPD 11 0 51 13 21 0 0 0 0 81
PSAT1 7 1 54 12 9 0 0 0 0 81
HPS6 16 12 41 4 8 0 0 0 0 79
PSPH 3 1 46 13 20 0 0 0 0 79
ABCD4 6 2 39 21 12 0 0 0 0 78
GLUD1 11 1 45 17 9 0 0 0 0 78
APRT 58 4 12 2 1 0 0 0 0 77
QDPR 12 7 37 8 14 0 0 0 0 74
LMBRD1 6 0 44 13 10 0 0 0 2 72
DHTKD1 8 5 33 11 15 0 0 0 1 71
CP, HPS3 5 2 42 9 12 0 0 0 0 68
AHCY 2 0 46 15 11 0 0 0 0 64
SLC45A2 14 6 42 2 1 0 0 0 0 63
PRODH 9 1 35 10 13 0 0 0 0 60
CTH 5 1 43 7 4 0 0 0 0 59
ALDH5A1, GPLD1 3 0 33 17 3 0 0 0 0 56
GCSH 1 1 38 10 7 0 0 0 0 56
LURAP1L, TYRP1 5 5 34 5 7 0 0 0 0 54
SPR 10 2 32 0 4 0 0 0 0 48
BLOC1S6 1 3 30 10 3 0 0 0 0 44
HIBCH 13 9 12 5 7 0 0 0 0 40
PREPL, SLC3A1 12 3 21 2 2 0 0 0 0 38
ADK 2 2 21 5 5 0 0 0 0 35
TYRP1 2 2 26 1 4 0 0 0 0 35
CA5A 10 2 11 8 3 0 0 0 0 33
SLC6A9 4 0 12 9 7 0 0 0 0 32
AMT, NICN1 5 6 18 5 1 0 0 0 0 31
MAOA 6 1 8 4 4 0 0 0 0 23
PYCR1 15 4 3 0 0 0 0 0 0 22
ABHD14A-ACY1, ACY1 8 1 11 0 0 0 0 0 0 18
ARG1 7 3 5 1 2 0 0 0 0 17
APRT, GALNS 0 0 2 8 6 0 0 0 0 16
GPR143 11 4 0 1 0 0 0 0 0 16
MIR3936HG, SLC22A5 1 1 5 1 6 0 0 0 6 15
AASS 7 3 4 0 0 0 0 0 0 14
SLC6A19 7 0 6 0 0 0 0 0 0 13
ALDH4A1, LOC120893116 0 0 7 2 3 0 0 0 0 11
MC1R 0 6 6 0 0 0 0 0 0 11
PCDH19 0 10 1 0 0 0 0 0 0 11
SLC1A4 8 2 1 0 0 0 0 0 0 11
DTNBP1 3 0 8 0 0 0 0 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 0 0 9
BLOC1S3 5 0 3 1 0 0 0 0 0 9
GLUD1, SHLD2 0 0 6 3 1 0 0 0 0 9
GAMT, NDUFS7 1 0 0 3 4 0 0 0 0 8
MYO5A 4 0 2 0 2 0 0 0 0 8
SLC1A1 0 0 4 3 1 0 0 0 0 8
UROC1 4 0 3 1 0 0 0 0 0 8
INS, INS-IGF2, TH 0 0 0 2 5 0 0 0 0 7
GLDC, LOC113839554 3 1 1 0 0 0 0 0 0 5
ATP6V1A 2 0 2 0 0 0 0 0 0 4
DMGDH 2 0 2 0 0 0 0 0 0 4
INS, TH 0 0 1 3 2 0 0 0 0 4
MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 0 4
SARDH 0 0 0 0 0 4 0 0 0 4
​intergenic 1 2 0 0 0 0 0 0 0 3
ABAT, PMM2, TMEM186 0 0 3 0 0 0 0 0 0 3
ADK, LOC102723439 1 0 0 0 2 0 0 0 0 3
DCT 3 3 0 0 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 0 0 3
HSERVPRODH, PRODH 2 0 1 0 0 0 0 0 0 3
MLPH 3 0 0 0 0 0 0 0 0 3
MYEF2, SLC24A5 1 1 0 0 0 0 1 0 0 3
ARSA 0 0 0 0 2 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 0 2
BLOC1S5 2 0 0 0 0 0 0 0 0 2
CNPY3-GNMT, GNMT 2 0 0 0 0 0 0 0 0 2
DGCR6, PRODH 1 0 1 0 0 0 0 0 0 2
HPS1, LOC101927278 0 0 1 1 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
ABAT, C16orf72, CARHSP1, GRIN2A, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 1
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CFD, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, KISS1R, MED16, MIDN, MISP, NDUFS7, PALM, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RNF126, SBNO2, STK11, TMEM259, WDR18 0 0 1 0 0 0 0 0 0 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 0 0 0 1
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 0 0 1
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, LOC110120633, LOC110120784, LOC111828517, LOC112939924, LOC112997536, LOC114827818, LOC116158485, LOC121048739, LOC121048740, 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
ACSL6, CDC42SE2, CSF2, FNIP1, HINT1, IL3, LYRM7, P4HA2, PDLIM4, RAPGEF6, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 1
ALDH4A1, MIR4695 0 0 0 1 0 0 0 0 0 1
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 0 0 1 0 0 0 0 0 0 1
AP3D1 1 0 0 0 0 0 0 0 0 1
ARG1, CTAGE9, ENPP1, ENPP3, MED23, OR2A4 0 0 1 0 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 0 0 0 1
ATP6AP2, BCOR, CFAP47, CXorf22, CXorf30, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TASL, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 0 0 0 0 1
ATP6V0A2, TCTN2 0 0 0 0 1 0 0 0 0 1
B2M, BLOC1S6, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, PATL2, SHF, SLC28A2, SLC30A4, SORD, SPATA5L1, SPG11, TERB2, TRIM69 0 0 1 0 0 0 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 0 0 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 0 0 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 1 0 0 0 0 0 0 0 0 1
BRCA1 1 0 0 0 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 0 0 0 1
CENPF 0 1 0 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
CNPY3-GNMT, GNMT, PEX6 1 0 0 0 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 0 0 0 0 1
GCH1, MIR4308 0 0 1 0 0 0 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010 0 0 1 0 0 0 0 0 0 1
KYNU 1 0 0 0 0 0 0 0 0 1
MIR320D1, MIR621, MRPS31, SLC25A15 1 0 0 0 0 0 0 0 0 1
NRL 0 0 1 0 0 0 0 0 0 1
P4HA2, PDLIM4, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 1
PAX3 1 0 0 0 0 0 0 0 0 1
PKHD1 0 1 0 0 0 0 0 0 0 1
RIMS1 1 0 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: 167
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
Invitae 1357 327 2939 2634 621 0 0 1 0 7879
Illumina Clinical Services Laboratory,Illumina 74 18 2999 419 795 0 0 0 0 4273
Counsyl 123 541 382 22 5 0 0 0 0 1073
Natera, Inc. 171 18 473 147 183 0 0 0 0 992
OMIM 735 0 0 0 4 8 2 0 0 749
ClinGen PAH Variant Curation Expert Panel 217 153 125 4 14 0 0 0 0 513
Baylor Genetics 174 48 127 0 0 0 0 0 0 349
Integrated Genetics/Laboratory Corporation of America 242 51 0 0 0 0 0 0 0 293
GeneReviews 216 0 0 0 12 0 0 0 0 228
Fulgent Genetics,Fulgent Genetics 92 23 65 0 0 0 0 0 0 180
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 168 0 0 0 0 0 0 0 169
Mendelics 40 24 20 14 26 0 0 0 0 124
Myriad Women's Health, Inc. 33 80 0 0 0 0 0 0 0 113
Research and Development, ARUP Laboratories 0 0 0 0 0 0 0 0 110 110
Genetic Services Laboratory, University of Chicago 63 25 0 0 0 0 0 1 0 89
Genomic Research Center, Shahid Beheshti University of Medical Sciences 28 17 31 1 0 0 0 0 0 77
Centre for Mendelian Genomics,University Medical Centre Ljubljana 27 19 28 0 0 0 0 0 0 73
APRT Deficiency Research Program of the Rare Kidney Stone Consortium,Landspitali, National University Hospital of Iceland 57 4 0 0 0 0 0 0 0 61
Elsea Laboratory,Baylor College of Medicine 19 3 28 5 0 0 0 0 0 55
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 0 0 0 7 55
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 9 4 4 1 32 0 0 0 0 50
University Children's Hospital, University of Zurich 48 0 0 0 0 0 0 0 0 48
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 30 16 1 0 0 0 0 0 0 47
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 2 0 13 28 0 0 0 0 47
NIHR Bioresource Rare Diseases, University of Cambridge 12 27 3 0 0 0 0 0 0 41
Institute of Human Genetics, University of Leipzig Medical Center 18 8 14 1 0 0 0 0 0 41
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 2 1 18 14 0 0 0 0 39
University of Washington Center for Mendelian Genomics, University of Washington 0 38 0 0 0 0 0 0 0 38
Genome Diagnostics Laboratory,University Medical Center Utrecht 13 0 1 14 8 0 0 0 0 36
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 11 10 6 0 0 0 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 24 0 0 0 0 0 0 25
Molecular Genetics laboratory,Necker Hospital 24 0 0 0 0 0 0 0 0 24
Institute of Human Genetics, Klinikum rechts der Isar 11 11 0 0 0 0 0 0 0 22
Center of Medical Genetics,Central South University 8 12 1 0 0 0 0 0 0 21
Knight Diagnostic Laboratories, Oregon Health and Sciences University 10 7 3 0 0 0 0 0 0 20
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 20 20
SingHealth Duke-NUS Institute of Precision Medicine 6 4 6 2 0 0 0 0 0 18
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 12 5 1 0 0 0 0 0 0 18
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 5 8 0 1 0 0 0 0 16
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 9 0 0 0 0 0 0 0 16
Centogene AG - the Rare Disease Company 8 7 0 0 0 0 0 0 0 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 8 6 1 0 0 0 0 0 0 15
Department of Genetics,Sultan Qaboos University Hospital, Oman 8 2 5 0 0 0 0 0 0 15
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 0 4 0 0 0 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 6 0 0 0 0 0 0 0 13
Laboratoire de Génétique Moléculaire, CHU Bordeaux 11 2 0 0 0 0 0 0 0 13
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 0 13 13
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 4 9 0 0 0 0 0 0 0 13
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 10 2 0 0 0 0 0 0 0 12
Division of Human Genetics,Children's Hospital of Philadelphia 5 6 1 0 0 0 0 0 0 12
SNPedia 11 0 0 0 0 0 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 5 1 0 0 0 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 0 0 0 11
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 6 0 0 0 0 11
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 4 4 0 0 0 0 11
New York Genome Center 0 3 8 0 0 0 0 0 0 11
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 4 3 3 0 0 0 0 0 0 10
Broad Institute Rare Disease Group, Broad Institute 0 0 6 0 4 0 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 2 0 7 0 0 0 0 0 0 9
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 8 1 0 0 0 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 6 0 1 2 0 0 0 0 9
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 6 3 0 0 0 0 0 0 0 9
Nilou-Genome Lab 2 0 1 3 3 0 0 0 0 9
Child Health and Human Development Program,Research Institute of the McGill University Health Center 9 0 0 0 0 0 0 0 0 9
Neurology Department,Peking University First Hospital 6 0 2 0 0 0 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 4 0 0 0 0 0 0 0 8
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 8 0 0 0 0 0 0 0 0 8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 7 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 7 0 0 0 0 0 0 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 0 0 0 7
Reproductive Health Research and Development,BGI Genomics 6 0 0 0 1 0 0 0 0 7
Clinical Genomics Program, Stanford Medicine 0 0 7 0 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 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
Hadassah Hebrew University Medical Center 4 2 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
College of Medicine Research Centre,King Saud Univeristy 1 2 2 0 0 0 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 1 4 0 0 0 0 0 0 0 5
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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 2 0 0 0 0 0 0 4
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 4 0 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 1 1 1 0 1 0 0 0 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 3 0 0 0 0 0 0 0 4
Division of Biology and Genetics,University of Brescia 4 0 0 0 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 2 1 0 0 0 0 0 0 0 3
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
Kasturba Medical College, Manipal University 0 2 1 0 0 0 0 0 0 3
Phosphorus, Inc. 0 0 0 0 3 0 0 0 0 3
Ege University Pediatric Genetics,Ege University 1 0 2 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 2 0 0 0 0 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 2 1 0 0 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 1 0 0 0 0 0 0 3
Biochemistry Laboratory of CDMU,Chengde Medical University 3 0 0 0 0 0 0 0 0 3
NxGen MDx 0 3 0 0 0 0 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 1 0 0 0 0 0 0 3
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 1 2 0 0 0 0 0 0 0 3
Pars Genome Lab 0 0 1 2 0 0 0 0 0 3
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 1 0 0 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital,Capital Medical University 1 2 0 0 0 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 0 2
Sydney Children's Hospital, SCHN 2 0 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 0 0 0 0 2
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 2 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics,University of Tübingen 1 1 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 2 0 0 0 0 0 0 2
Department of Pediatrics,The First Affiliated Hospital, Jinan University 2 0 0 0 0 0 0 0 0 2
UF de génétique clinique,APHP Hôpital Armand Trousseau 0 2 0 0 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory,Edith Wolfson Medical Center 0 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 1 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 0 1 0 1
Institute of Human Genetics,University Hospital Ulm 1 0 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
Blueprint Genetics 0 1 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
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 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
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 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
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 0 1 0 0 0 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 1 0 0 0 0 0 0 0 1
Alibakhshi Medical Genetics Laboratory,Kermanshah University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 0 0 0 1
Paris Brain Institute,Inserm - ICM 1 0 0 0 0 0 0 0 0 1
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 0 0 1
Genetic Disease Research Branch / Genetics Development and Disease Section,National Human Genome Research Institute 1 0 0 0 0 0 0 0 0 1

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