Variants from Undiagnosed Diseases Network, NIH with conflicting interpretations

Minimum review status of the submission from Undiagnosed Diseases Network, NIH:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Undiagnosed Diseases Network, NIH:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2025-03-05

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
445	178	1	135	13	6	108	233

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Undiagnosed Diseases Network, NIH		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	likely risk allele	pathogenic, low penetrance	protective	risk factor	other
	pathogenic	1	76	24	1	1	1	2	1	2	0	1	0
	likely pathogenic	60	0	38	3	2	0	0	0	0	1	0	1
	uncertain significance	36	20	0	11	5	0	0	0	0	1	2	1
	likely benign	0	0	1	0	0	0	0	0	0	0	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
OMIM	0	100	0	25	0	2	19	45
Labcorp Genetics (formerly Invitae), Labcorp	0	60	0	16	2	2	17	36
GeneDx	0	24	0	12	2	0	16	28
Baylor Genetics	0	90	0	11	0	0	12	22
Revvity Omics, Revvity	0	17	0	8	0	0	10	18
Fulgent Genetics, Fulgent Genetics	0	36	0	11	1	0	4	16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	31	0	12	0	0	2	14
PreventionGenetics, part of Exact Sciences	0	8	0	4	3	0	4	11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	34	0	5	1	0	5	11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	14	0	5	0	0	7	11
Mendelics	0	23	0	2	3	0	4	9
Institute of Human Genetics, University of Leipzig Medical Center	0	29	0	7	0	1	1	9
Illumina Laboratory Services, Illumina	0	20	0	3	3	0	3	8
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	1	0	0	7	8
MGZ Medical Genetics Center	0	24	0	5	0	0	2	7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	8	0	2	0	0	5	7
CeGaT Center for Human Genetics Tuebingen	0	15	0	1	4	0	3	7
Ambry Genetics	0	8	0	1	1	0	4	6
Counsyl	0	4	0	4	0	0	2	6
Solve-RD Consortium	0	0	0	4	0	0	2	6
3billion, Medical Genetics	0	24	0	3	0	0	2	5
Neuberg Centre For Genomic Medicine, NCGM	0	11	0	3	0	0	2	5
CSER _CC_NCGL, University of Washington	0	1	0	1	3	0	0	4
Daryl Scott Lab, Baylor College of Medicine	0	10	0	3	0	0	2	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	11	0	2	0	0	3	4
Breakthrough Genomics, Breakthrough Genomics	0	3	0	0	3	0	2	4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	12	0	1	0	0	2	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	4	0	0	0	1	2	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	2	0	3	0	0	0	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	8	0	2	0	0	1	3
Color Diagnostics, LLC DBA Color Health	0	0	0	0	3	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	3	0	3	0	0	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	6	0	3	0	0	0	3
NIHR Bioresource Rare Diseases, University of Cambridge	0	0	0	2	0	0	1	3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	10	0	2	1	0	2	3
SIB Swiss Institute of Bioinformatics	0	0	0	3	0	0	0	3
Juno Genomics, Hangzhou Juno Genomics, Inc	0	7	0	2	0	0	1	3
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine	0	0	0	1	0	0	2	3
Genome-Nilou Lab	0	6	0	3	0	0	0	3
Athena Diagnostics	0	3	0	1	0	0	2	2
Genetic Services Laboratory, University of Chicago	0	12	0	2	0	0	0	2
Eurofins Ntd Llc (ga)	0	4	0	1	1	1	2	2
Center for Medical Genetics Ghent, University of Ghent	0	0	0	2	0	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	2	0	2	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	7	0	2	0	0	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	0	1	0	0	1	2
Genetics and Molecular Pathology, SA Pathology	0	6	0	0	0	0	2	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	9	0	1	0	0	2	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	0	1	1	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	3	0	1	0	0	1	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	6	0	2	0	0	0	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	4	0	2	0	0	1	2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	1	0	2	0	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	3	0	1	1	0	0	2
Myriad Genetics, Inc.	0	10	0	2	0	0	0	2
New York Genome Center	0	7	0	2	0	0	1	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	3	0	2	0	0	0	2
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	0	0	0	2	0	0	2
All of Us Research Program, National Institutes of Health	0	0	0	0	2	0	0	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	2	0	1	0	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	5	0	0	1	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	3	0	1	0	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	0	0	0	0	0	1	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	0	0	1	0	0	0	1
Elsea Laboratory, Baylor College of Medicine	0	1	0	1	0	0	1	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	2	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	0	5	0	1	0	0	0	1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	0	0	1	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	0	0	1	0	1
Natera, Inc.	0	11	0	0	0	0	1	1
GeneReviews	0	26	1	0	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	6	0	1	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	0	1	0	0	1	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	17	0	1	0	0	0	1
ITMI	0	0	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	3	0	1	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	0	0	0	0	1	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	0	1	0	0	1	1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	0	2	0	0	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	0	0	0	1	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	1	0	0	1	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	5	0	1	0	0	0	1
Laboratory of Molecular Genetics, CHU RENNES	0	0	0	0	0	0	1	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	0	1	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	1	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	1	0	1	0	0	1	1
Undiagnosed Diseases Network, NIH	853	2	0	0	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	0	1	1	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	1	0	1	1	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	0	0	0	1	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	1	1
Genetics Department, University Hospital of Toulouse	0	0	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	4	0	0	1	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	1	0	1	0	0	1	1
Variantyx, Inc.	0	0	0	0	0	1	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	0	1	0	0	0	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	0	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	1	0	1	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	8	0	1	0	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	1	0	0	0	0	1	1
Genomic Medicine Lab, University of California San Francisco	0	2	0	1	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	0	0	0	0	0	1	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	0	0	0	1	1
Johns Hopkins Genomics, Johns Hopkins University	0	4	0	1	0	0	0	1
Children's Medical Research Institute, University of Sydney	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	1	1
Women's and Children's Health, University of Otago	0	0	0	0	0	0	1	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	3	0	0	0	0	1	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	0	0	1	0	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	0	1	0	1	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	0	0	1	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	3	0	0	0	0	1	1
Rare Disease Group, University of Exeter	0	0	0	0	0	0	1	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	1	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	1	0	0	1	1
Molecular Genetics Lab, CHRU Brest	0	0	0	1	0	0	0	1
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University	0	0	0	0	0	0	1	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	1	1
GenomeConnect - Simons Searchlight	0	0	0	1	0	0	0	1
Paris Brain Institute, Inserm - ICM	0	1	0	1	0	0	0	1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	0	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	0	0	1	0	0	0	1
DASA	0	5	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	5	0	0	0	0	1	1
Genomics England Pilot Project, Genomics England	0	5	0	0	0	0	1	1
Houlden Lab, UCL Institute of Neurology	0	0	0	0	0	0	1	1
Molecular Endocrinology Laboratory, Christian Medical College	0	0	0	1	0	0	0	1
Department of Genetics, CHU d'Angers	0	0	0	1	0	0	0	1
Eurofins-Biomnis	0	0	0	1	0	0	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	1	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	0	0	0	1	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	1	1
Institute of Immunology and Genetics Kaiserslautern	0	2	0	0	0	0	1	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	0	0	0	1	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	1	1
Département de Neurologie, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	0	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	0	0	1	0	1
Akizu Lab, Children's Hospital Of Philadelphia	0	0	0	0	0	0	1	1
Department of Neurosciences, Rehabilitation, Ophthalmology and Maternal-Fetal Medicine (DINOGMI), University Of Genoa	0	0	0	0	0	0	1	1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	0	0	0	1	0	0	0	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	1	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_015602.4(TOR1AIP1):c.554-4G>A	rs2245425	0.58997
NM_001370466.1(NOD2):c.2717+158C>T	rs5743289	0.10180
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	rs2066844	0.02936
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	rs35744605	0.00367
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_025152.3(NUBPL):c.815-27T>C	rs118161496	0.00348
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)	rs117475706	0.00292
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	rs41282065	0.00267
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	rs119468010	0.00173
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00156
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00149
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)	rs150317197	0.00078
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00069
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_001086521.2(NDUFAF8):c.195+271C>T	rs745332456	0.00063
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)	rs146505280	0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)	rs147946775	0.00049
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	rs553950608	0.00044
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00042
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)	rs147508369	0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001077415.3(CRELD1):c.959del (p.Gln320fs)	rs759473511	0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	rs199946797	0.00035
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)	rs145355907	0.00032
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)	rs201958805	0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	rs139455627	0.00027
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	rs200393300	0.00026
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)	rs538193392	0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	rs139373929	0.00024
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	rs374746113	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	rs755169246	0.00016
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)	rs201866563	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_019109.5(ALG1):c.1187+3A>G	rs369160589	0.00013
NM_005186.4(CAPN1):c.1605+5G>A	rs375817528	0.00012
NM_006767.4(LZTR1):c.1943-256C>T	rs761685529	0.00009
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	rs765632065	0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	rs769009456	0.00007
NM_004204.5(PIGQ):c.942+1G>A	rs200661329	0.00006
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)	rs747965749	0.00005
NR_023343.3(RNU4ATAC):n.48G>A	rs863225422	0.00005
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)	rs771379232	0.00004
NM_015909.4(NBAS):c.2423+404G>C	rs1019313682	0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=)	rs200404654	0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs)	rs1159382283	0.00003
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)	rs1028163227	0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)	rs397515440	0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	rs140614802	0.00003
NM_176787.5(PIGN):c.1251+1G>A	rs1462805697	0.00003
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr)	rs971183744	0.00002
NM_001085411.3(NADK2):c.1A>G (p.Met1Val)	rs1277388010	0.00002
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)	rs753635972	0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)	rs367904759	0.00002
NM_000023.4(SGCA):c.957-11C>G	rs1391089933	0.00001
NM_000264.5(PTCH1):c.395-1G>A	rs368869806	0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	rs1021029193	0.00001
NM_000492.4(CFTR):c.870-2A>G	rs1290078234	0.00001
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)	rs1401839892	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs)	rs1217391623	0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)	rs587784347	0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	rs781984979	0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)	rs772606107	0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)	rs1244525711	0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter)	rs201692212	0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)	rs1335783881	0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	rs916775904	0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)	rs1441937959	0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)	rs752298579	0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	rs387907260	0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=)	rs796052686	0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	rs764160563	0.00001
NC_012920.1(MT-ATP6):m.8993T>C	rs199476133
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TT):m.15923A>G	rs1556424691
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	rs797045344
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	rs794728208
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)	rs1232880706
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	rs781205883
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	rs555145190
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)	rs374526072
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)	rs786201868
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	rs137854539
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser)	rs1555803933
NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg)	rs983463553
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	rs797044849
NM_000884.3(IMPDH2):c.593A>G (p.Asn198Ser)
NM_000977.4(RPL13):c.477+1G>A	rs1597675888
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)	rs2101936697
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	rs1553154130
NM_001083962.2(TCF4):c.1486+1G>T	rs2048816852
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly)	rs794728967
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.631+5G>A	rs786200963
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	rs1567871600
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)	rs1555483699
NM_001161.5(NUDT2):c.186del (p.Ala63fs)	rs529087882
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	rs886039469
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)	rs1475000361
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)	rs1555167299
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)	rs1644918844
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	rs1555955290
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)	rs878854424
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	rs1555954284
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)	rs1572935708
NM_001383.6(DPH1):c.749+39G>A
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser)	rs1478088223
NM_001393769.1(MED12L):c.3664+2T>G
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys)	rs143473036
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)	rs199984052
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)	rs1555883505
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly)	rs2053293877
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	rs1421405659
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)	rs730880503
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser)	rs749240316
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)	rs2113558441
NM_003334.4(UBA1):c.121A>G (p.Met41Val)	rs1936307795
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	rs779027563
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)	rs2102658561
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)	rs1057518995
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)	rs1554333853
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	rs1567876984
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)	rs2144189607
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)	rs1553798675
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)	rs776975632
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)	rs1705222655
NM_004722.4(AP4M1):c.929+5G>A	rs1293317548
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	rs886039769
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	rs886041761
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)	rs2043431490
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)	rs1357686410
NM_005499.3(UBA2):c.1834A>T (p.Arg612Trp)
NM_005701.4(SNUPN):c.164G>A (p.Arg55Gln)
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)	rs587782995
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)	rs1561793272
NM_006003.3(UQCRFS1):c.215-1G>C	rs1568344751
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)	rs886041091
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys)	rs2139193533
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	rs727502823
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)	rs778625348
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter)	rs1002531030
NM_013432.5(TONSL):c.866-1G>C	rs1424148372
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	rs1554504663
NM_015836.4(WARS2):c.161G>A (p.Gly54Glu)
NM_015949.3(GET4):c.837A>G (p.Ile279Met)	rs1844404490
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_017534.6(MYH2):c.5673+1G>C	rs1400481053
NM_017780.4(CHD7):c.2239-16T>A
NM_019042.5(PUS7):c.398+1G>T	rs1264890888
NM_020320.5(RARS2):c.1612del (p.Thr538fs)	rs781417096
NM_020964.3(EPG5):c.5943-9_5943-5del	rs773330060
NM_022786.3(ARV1):c.674-2A>T	rs1192627743
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs)	rs1566785444
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter)	rs1448259271
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)	rs1555377415
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)	rs1345176461
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)	rs786205124
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)	rs1553770577
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)	rs1052954321
NM_030632.3(ASXL3):c.3039+1G>A	rs1555743003
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	rs387906800
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)	rs866294686
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032536.4(NTNG2):c.858-13G>A	rs1840794100
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	rs753688777
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)
NM_139159.5(DPP9):c.641C>G (p.Ser214Ter)
NM_144973.4(DENND5B):c.2547C>A (p.Asp849Glu)
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)	rs1569151872
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	rs796052243
NM_152296.5(ATP1A3):c.2747T>G (p.Ile916Ser)	rs1555859165
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	rs763301637
NM_177972.3(TUB):c.1215+1G>A	rs1589996458
NM_183075.3(CYP2U1):c.1584del (p.Phe528fs)
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449
NR_033294.2(SNORD118):n.131C>G	rs746503581
NR_033294.2(SNORD118):n.20C>T	rs545394298
NR_033294.2(SNORD118):n.3C>T	rs117735243
Single allele