ClinVar Miner

Variants from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals with conflicting interpretations

Location: Canada  Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals: Collection method of the submission from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
290 132 2 101 25 0 30 138

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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 49 3 1 0
likely pathogenic 33 0 11 1 0
uncertain significance 3 13 0 9 0
likely benign 1 0 15 0 15
benign 0 0 1 4 0

Submitter to submitter summary #

Total submitters: 104
Download table as spreadsheet
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
Labcorp Genetics (formerly Invitae), Labcorp 0 70 1 27 4 0 12 44
Illumina Laboratory Services, Illumina 0 18 0 7 13 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 32 0 7 2 0 3 12
OMIM 0 48 0 9 0 0 1 10
Genome-Nilou Lab 0 22 0 4 3 0 1 8
Mendelics 0 22 0 4 0 0 3 7
Natera, Inc. 0 34 0 3 3 0 1 7
3billion 0 37 0 6 0 0 0 6
Counsyl 0 5 0 3 0 0 2 5
Fulgent Genetics, Fulgent Genetics 0 13 0 4 1 0 0 5
Revvity Omics, Revvity 0 19 0 3 0 0 2 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 29 0 4 0 0 1 5
Baylor Genetics 0 33 0 3 0 0 1 4
CFTR-France 0 1 0 3 0 0 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 1 2 0 0 1 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 3 0 0 1 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 14 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 3 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 3 0 3 0 0 0 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 3 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 11 0 2 0 0 1 3
Neuberg Centre For Genomic Medicine, NCGM 0 9 0 3 0 0 0 3
Solve-RD Consortium 0 0 0 3 0 0 0 3
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 7 0 2 0 0 1 3
Ambry Genetics 0 9 0 1 0 0 1 2
Athena Diagnostics 0 2 0 2 0 0 0 2
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 2 0 0 0 2
GeneDx 0 13 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 26 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 10 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 14 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 0 1 0 1 2
PreventionGenetics, part of Exact Sciences 0 7 0 0 1 0 1 2
Roden Lab, Vanderbilt University Medical Center 0 2 0 0 0 0 2 2
Suma Genomics 0 2 0 0 0 0 2 2
Variantyx, Inc. 0 18 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 8 0 0 0 0 1 1
All of Us Research Program, National Institutes of Health 0 2 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 1 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 9 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 7 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 0 0 0 1 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 1 0 0 0 0 1 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 5 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 0 0 1 0 0 0 1
Dept of Genetics, Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
Eurofins-Biomnis 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 8 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 3 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
INGEBI, INGEBI / CONICET 0 3 0 0 1 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 11 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 4 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 6 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 1 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 10 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 8 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 0 0 1 0 0 0 1
Molecular Diagnosis Center for Deafness 0 1 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 3 0 1 0 0 0 1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 0 0 0 1 0 0 0 1
New York Genome Center 0 3 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 0 0 0 1 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 2 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1 1
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 3 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen) 0 0 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00634
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00340
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00293
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00273
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00220
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00084
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00072
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00017
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00013
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00013
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_001163435.3(TBCK):c.2060-2A>G rs62321379 0.00005
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_018946.4(NANS):c.562T>C (p.Tyr188His) rs878852981 0.00004
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_000518.5(HBB):c.-140C>T rs34999973 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_001080510.5(METTL23):c.470_471del (p.Leu157fs) rs760933323 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter) rs782124562 0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_014639.4(SKIC3):c.1499G>T (p.Gly500Val) rs138144509 0.00001
NM_018946.4(NANS):c.709C>T (p.Arg237Cys) rs878852982 0.00001
NC_000011.10:g.5227113G>C rs397515291
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000159.4(GCDH):c.442G>A (p.Val148Ile) rs1003611285
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000335.5(SCN5A):c.4810+5G>A rs2125830430
NM_000335.5(SCN5A):c.935-3C>G rs766127222
NM_000371.4(TTR):c.232C>G (p.Leu78Val) rs2510933010
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000371.4(TTR):c.272T>C (p.Val91Ala) rs121918084
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) rs774711025
NM_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del) rs1556019105
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter) rs2108805626
NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser) rs104895223
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001127178.3(PIGG):c.571del rs1553880098
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_004004.6(GJB2):c.3G>A (p.Met1Ile) rs2500253846
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) rs886041021
NM_006245.4(PPP2R5D):c.625C>T (p.His209Tyr) rs2532475494
NM_006421.5(ARFGEF1):c.4655dup (p.Pro1553fs) rs774148781
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter) rs1064794022
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015330.6(SPECC1L):c.3293G>A (p.Arg1098Gln) rs1555874726
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081

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