ClinVar Miner

Variants studied for liver disorder

Included ClinVar conditions (118):
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 likely risk allele risk factor other not provided total
752 817 2010 877 545 3 1 16 31 4777

Gene and significance breakdown #

Total genes and gene combinations: 212
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor other not provided total
ABCB11 85 104 124 28 36 0 0 0 0 342
PHKA2 64 44 111 73 40 0 0 0 0 311
PHKG2 40 11 75 194 13 0 0 0 0 308
LRP5 5 6 161 95 4 0 0 0 5 271
ATP8B1 45 52 122 14 41 0 0 0 6 261
SEC63 28 15 111 35 65 0 0 0 0 242
SP110 15 9 118 66 17 0 0 0 0 215
SP110, SP140 15 2 107 78 22 0 0 0 6 215
F5 0 0 144 17 41 0 0 0 0 202
TP53 16 159 6 5 2 0 0 0 0 181
ABCB4 41 56 72 7 17 0 0 0 0 174
FECH 24 10 59 40 30 0 0 0 1 155
TRMU 12 21 69 25 22 0 0 0 1 135
HMBS 58 17 35 9 11 0 0 0 2 118
PRKCSH 13 11 33 30 32 0 0 0 0 109
APC 18 2 69 10 3 0 0 0 0 102
NBAS 28 33 20 4 14 0 0 0 1 93
ALAD 6 2 60 11 13 0 0 0 0 90
PNPLA3 0 0 50 17 14 1 1 0 0 81
TJP2 32 19 14 3 8 0 0 0 0 72
CPOX 2 4 25 5 32 0 0 0 1 67
PPOX 20 6 33 4 3 0 0 0 2 62
HNF1A 6 4 33 16 1 0 0 0 0 60
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 6 3 45 3 3 0 0 0 0 59
PKHD1 7 15 22 10 0 0 0 0 0 54
UROD 16 7 27 4 1 0 0 0 3 52
ALG8 10 12 15 8 0 0 0 0 0 44
UTP4 0 0 28 4 8 0 0 0 0 39
CTNNB1, LOC126806658 6 28 0 1 0 0 0 2 0 31
USP53 10 13 7 0 0 0 0 0 0 30
MET 3 0 24 1 0 0 0 0 0 28
CPOX, LOC129937121 0 0 13 0 10 0 0 0 0 23
LARS1 4 8 9 2 1 0 0 0 0 22
PIK3CA 5 17 3 0 0 0 0 0 0 22
ABCB11, LOC126806400 6 7 9 1 0 0 0 0 0 21
GPD1 7 5 9 0 1 0 0 0 0 19
MYO5B 11 0 4 3 1 0 0 0 0 19
GANAB 5 3 2 0 5 0 0 0 0 15
NR1H4 5 4 4 0 0 0 0 0 0 13
RINT1 5 0 6 0 1 0 0 0 0 12
HFE 3 1 7 0 0 0 0 0 0 11
INSL6, JAK2 1 0 8 1 1 0 0 0 0 11
ALAD, LOC130002419 0 0 5 5 0 0 0 0 0 10
HRAS, LRRC56 0 10 0 0 0 0 0 0 0 10
LRP6 0 1 7 2 0 0 0 0 0 10
ABCB6 0 0 0 2 9 0 0 0 0 9
FOCAD 6 1 2 0 0 0 0 0 0 9
ALAS2 4 0 3 0 0 0 0 0 3 8
DPAGT1, HMBS 0 0 0 4 4 0 0 0 0 8
KIF12 4 4 2 0 0 0 0 0 0 8
ODAD3, PRKCSH 0 0 3 2 3 0 0 0 0 8
PKD1 4 0 1 2 1 0 0 0 0 8
ZFYVE19 6 0 2 0 0 0 0 0 0 8
CTNNB1 2 1 0 4 0 0 0 0 0 7
CTNNB1, LOC126806659 3 2 1 1 0 0 0 0 0 7
ALG9 1 0 0 0 4 0 0 0 0 5
AXIN1 1 0 2 2 0 0 0 0 0 5
CDKN2A 0 4 0 0 1 0 0 0 0 5
FARSB 5 0 0 0 0 0 0 0 0 5
FECH, LOC130062554 0 0 2 3 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 5
LOC130058864, PHKG2 0 0 4 0 1 0 0 0 0 5
LOC130063575, PRKCSH 0 1 2 2 1 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 0 0 5
TERT 3 0 2 0 0 0 0 0 0 5
ATP8B1, LOC126862761 2 0 2 0 0 0 0 0 0 4
CDC25A 0 1 1 2 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
EFCAB10, RINT1 0 0 2 0 2 0 0 0 0 4
GIMAP1-GIMAP5, GIMAP5 0 4 0 0 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 0 0 4
NFE2L2 0 4 0 0 0 0 0 0 0 4
PKD2 1 1 1 1 0 0 0 0 0 4
BLVRA 2 1 0 0 0 0 0 0 0 3
CASP8 1 0 1 1 0 0 0 0 0 3
DOCK8 0 0 3 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 0 3
HNF1B 0 0 2 1 0 0 0 0 0 3
HNF4A 0 1 2 0 0 0 0 0 0 3
IGF2R 2 0 1 0 0 0 0 0 0 3
LOC130067168, XBP1 0 0 0 3 0 0 0 0 0 3
ONECUT2 0 0 3 0 0 0 0 0 0 3
RAD50 0 3 0 0 0 0 0 0 0 3
VDR 0 1 0 0 0 2 0 0 0 3
​intergenic 2 0 0 0 0 0 0 0 0 2
ABCB4, LOC129998756 0 0 0 0 2 0 0 0 0 2
ATG7 2 0 0 0 0 0 0 0 0 2
ATM 0 0 1 0 1 0 0 0 0 2
BRCA2 0 1 1 0 0 0 0 0 0 2
C12orf43, HNF1A 0 0 2 0 0 0 0 0 0 2
CLPX 1 1 0 0 1 0 0 0 0 2
CNOT9 0 2 0 0 0 0 0 0 0 2
COL7A1 0 1 1 0 0 0 0 0 0 2
DHCR7 0 1 1 0 0 0 0 0 0 2
DKK3 0 2 0 0 0 0 0 0 0 2
FANCM 0 0 2 0 0 0 0 0 0 2
FECH, LOC129390998 0 0 0 2 0 0 0 0 0 2
FECH, LOC130062560 1 1 0 0 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 0 0 2
FH 0 1 1 0 0 0 0 0 0 2
GLI3 0 0 2 0 0 0 0 0 0 2
IGF2R, LOC129997612 0 1 1 0 0 0 0 0 0 2
KRAS 0 2 0 0 0 0 0 0 0 2
KRT18, LOC106096416 0 0 2 0 0 0 0 0 0 2
LOC129930433, UROD 1 0 1 0 0 0 0 0 0 2
LOC129935748, SP110, SP140 0 0 0 2 0 0 0 0 0 2
MSH2 0 1 1 0 0 0 0 0 0 2
MYO5B, SNHG22 0 0 0 2 0 0 0 0 0 2
ONECUT1 0 0 2 0 0 0 0 0 0 2
PRMT7 2 0 0 0 0 0 0 0 0 2
RUVBL1, SEC61A1 0 1 1 0 0 0 0 0 0 2
RXRA 0 2 0 0 0 0 0 0 0 2
SF3B1 0 2 0 0 0 0 0 0 0 2
SLC51A 1 0 1 0 0 0 0 0 0 2
STK11 0 0 1 1 0 0 0 0 0 2
VHL 0 1 1 0 0 0 0 0 0 2
VPS33B 2 0 0 0 0 0 0 0 0 2
ABCB4, LOC129998757 0 0 1 0 0 0 0 0 0 1
ACO2 1 0 0 0 0 0 0 0 0 1
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 0 0 1 0 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 0 1
ALAS2, LOC108663984 0 1 0 0 0 0 0 0 0 1
ALG8, LOC130006492 0 0 0 1 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 0 1 0 1
ATM, C11orf65 0 0 1 0 0 0 0 0 0 1
ATP8B1, LOC126862761, LOC126862762, LOC129390999 1 0 0 0 0 0 0 0 0 1
B4GALT3, PPOX, USP21 1 0 0 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 0 0 0 0 1
CXCL8 0 0 0 0 0 0 0 1 0 1
CXCR1 0 0 0 0 0 0 0 1 0 1
DIS3L2 0 0 1 0 0 0 0 0 0 1
DKK3, LOC130005346 0 0 1 0 0 0 0 0 0 1
DROSHA 0 0 1 0 0 0 0 0 0 1
EGF 0 0 0 0 0 0 0 1 0 1
EGFR 0 0 0 0 0 0 0 1 0 1
EP300 0 0 1 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 0 1
EXT2 0 1 0 0 0 0 0 0 0 1
FAH 0 0 1 0 0 0 0 0 0 1
FANCA 0 1 0 0 0 0 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 0 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 0 0 0 0 1
FAS 0 0 1 0 0 0 0 0 0 1
FBN1 0 1 0 0 0 0 0 0 0 1
FECH, LOC130062555 1 0 1 1 1 0 0 0 0 1
FGFR3 0 1 0 0 0 0 0 0 0 1
FLCN 0 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 1
FRMPD1 0 0 1 0 0 0 0 0 0 1
GBA1, LOC106627981 0 1 0 0 0 0 0 0 0 1
GJA4 1 0 0 0 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 0 0 0 1
HHEX, LOC130004359 0 0 1 0 0 0 0 0 0 1
HIF1A 0 0 0 0 0 0 0 1 0 1
HNF1B, LOC126862549 0 0 1 0 0 0 0 0 0 1
IL10, IL19 0 0 0 0 0 0 0 1 0 1
IL1B 0 0 0 0 0 0 0 1 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 1 0 1
JAG1 0 1 0 0 0 0 0 0 0 1
JAK2, LOC130001497 0 0 1 0 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 0 0 1
KDR 0 0 1 0 0 0 0 0 0 1
KRT18, KRT8, LOC106096416 0 0 1 0 0 0 0 0 0 1
LARS1, LOC129389388 0 0 0 1 0 0 0 0 0 1
LOC110806263, TERT 0 1 0 0 0 0 0 0 0 1
LOC121627950, PNPLA3 0 0 1 0 0 0 0 0 0 1
LOC126805688, YARS1 0 1 0 0 0 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 0 0 0 1
LOC126862745, MYO5B, SNHG22 0 0 0 1 0 0 0 0 0 1
LOC129930432, UROD 0 0 0 1 0 0 0 0 0 1
LOC129933155, NBAS 0 1 0 0 0 0 0 0 0 1
LOC130057954, UNC45A 1 0 0 0 0 0 0 0 0 1
LOC130062487, MYO5B 0 0 0 1 0 0 0 0 0 1
MILR1, POLG2 0 1 0 0 0 0 0 0 0 1
MLH1 0 0 0 0 1 0 0 0 0 1
MMUT 0 1 0 0 0 0 0 0 0 1
MN1 0 0 0 0 0 0 0 1 0 1
MSH6 0 0 1 0 0 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 0 0 0 1
MT-TL1 0 0 1 0 0 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 0 0 1
MYOM1 0 1 0 0 0 0 0 0 0 1
NBN 0 1 0 0 0 0 0 0 0 1
NDRG4 0 0 1 0 0 0 0 0 0 1
NF2 0 0 0 1 0 0 0 0 0 1
NYNRIN 0 0 1 0 0 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 0 0 1
PACERR, PTGS2 0 0 0 0 0 0 0 1 0 1
PALB2 0 0 1 0 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 0 0 1
POLD1 0 0 0 1 0 0 0 0 0 1
PTGS2 0 0 0 0 0 0 0 1 0 1
PTPRO 0 0 1 0 0 0 0 0 0 1
RECQL 0 0 1 0 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 0 1
REN 0 1 0 0 0 0 0 0 0 1
RET 0 1 0 0 0 0 0 0 0 1
RHBDF2 0 0 1 0 0 0 0 0 0 1
RPS19 0 0 1 0 0 0 0 0 0 1
SEC61A2 0 0 0 1 0 0 0 0 0 1
SEMA7A 1 0 0 0 0 0 0 0 0 1
SET 0 0 0 0 0 0 0 1 0 1
SF3B2 0 1 0 0 0 0 0 0 0 1
SH2B3 0 0 1 0 0 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 0 0 1
TGFBR2 0 0 1 0 0 0 0 0 0 1
UNC45A 1 0 0 0 0 0 0 0 0 1
VEGFA 0 0 0 0 0 0 0 1 0 1
YARS1 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 149
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor other not provided total
Illumina Laboratory Services, Illumina 7 3 955 200 363 0 0 0 0 1525
Labcorp Genetics (formerly Invitae), Labcorp 87 25 318 398 89 0 0 0 0 917
Fulgent Genetics, Fulgent Genetics 57 42 372 209 19 0 0 0 0 699
OMIM 272 0 1 0 0 0 0 0 0 273
Database of Curated Mutations (DoCM) 0 253 0 0 0 0 0 0 0 253
Baylor Genetics 94 101 53 0 0 0 0 0 0 247
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 43 35 59 28 5 0 0 0 4 174
Natera, Inc. 16 8 37 33 32 0 0 0 0 126
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 17 34 44 2 1 0 0 0 0 98
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 51 0 0 0 0 0 0 0 92
Genome-Nilou Lab 1 0 2 0 83 0 0 0 0 86
Mendelics 30 30 10 2 6 0 0 0 0 78
Neuberg Centre For Genomic Medicine, NCGM 12 22 43 0 0 0 0 0 0 77
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 49 20 1 0 0 0 0 0 0 70
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 1 14 38 0 0 0 0 0 0 53
3billion 16 15 13 7 0 0 0 0 0 51
Revvity Omics, Revvity 6 17 14 0 0 0 0 0 0 37
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 0 0 0 0 33
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 2 12 0 0 0 0 0 0 30
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 1 9 1 0 0 0 0 0 21
GeneReviews 1 0 0 0 0 0 0 0 19 20
Genomics And Bioinformatics Analysis Resource, Columbia University 5 14 0 0 0 0 0 0 0 19
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 14 3 0 0 0 0 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 4 9 0 0 0 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 11 0 0 0 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 5 3 5 1 0 0 0 0 0 14
Yale Center for Mendelian Genomics, Yale University 2 12 0 0 0 0 0 0 0 14
Centogene AG - the Rare Disease Company 2 6 4 0 0 0 0 0 0 12
Molecular Diagnostics Laboratory, Seoul National University Hospital 6 5 1 0 0 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 5 3 3 0 1 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 7 0 0 0 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 3 0 0 0 0 0 0 0 11
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin 0 0 0 0 0 0 0 11 0 11
MGZ Medical Genetics Center 4 2 4 0 0 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 4 3 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 1 0 0 0 1 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 8 0 0 0 0 9
Phillips Lab, Hematology, University of Utah 0 0 0 2 9 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 3 3 0 0 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 4 0 0 0 0 0 0 7
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 4 1 2 0 0 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 1 1 0 0 0 0 0 0 7
CZECANCA consortium 0 7 0 0 0 0 0 0 0 7
MVZ Medizinische Genetik Mainz 1 2 4 0 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 3 2 0 0 0 0 0 6
Hadassah Hebrew University Medical Center 0 6 0 0 0 0 0 0 0 6
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 5 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 0 0 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 2 0 0 0 0 0 0 0 5
Counsyl 0 2 2 0 1 0 0 0 0 5
Centre for Human Genetics 5 0 0 0 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 0 0 0 5
3DMed Clinical Laboratory Inc 0 0 5 0 0 0 0 0 0 5
Stefan Somlo Laboratory, Yale School of Medicine 1 0 0 0 4 0 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 4 0 0 0 0 0 0 5
Genomics England Pilot Project, Genomics England 0 5 0 0 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 1 3 1 0 0 0 0 0 0 5
Elsea Laboratory, Baylor College of Medicine 1 3 0 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 0 0 0 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 1 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 1 0 0 0 0 0 0 4
Undiagnosed Diseases Network, NIH 0 1 3 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 4 0 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 4 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 1 2 0 0 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 0 0 3
Endocrinology Department, First Hospital Of Shanxi Medical University 3 0 0 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 2 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 0 0 0 3
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 2 0 0 0 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 0 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 0 0 0 0 3
Bioengineering and Technology, Gauhati University 0 1 0 0 0 2 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 2 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 0 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 0 0 0 0 2
Working Group: Pediatric metabolic liver diseases, University Hospital Heidelberg 2 0 0 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 0 0 2
Genomics Facility, Ludwig-Maximilians-Universität München 1 1 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 0 1
Medical Genetics, Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1 0 0 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 0 1 0 0 0 0 0 0 0 1
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Asahikawa Medical University 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics, University Hospitals Cleveland Medical Center 0 0 1 0 0 0 0 0 0 1
Keith Choate Laboratory, Yale University 1 0 0 0 0 0 0 0 0 1
Suma Genomics, Suma Genomics 1 0 0 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 1
Center of Laboratory Medicine, Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 0 0 0 1
QSNICH Molecular Lab, Queen Sirikit National Institute of Child Health 0 1 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 0 0 1
Department of Surgical Oncology, and Genetic Counseling Unit of Clinical Genomics Center, Nagasaki University Graduate School of Biomedical Sciences 1 0 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.