ClinVar Miner

Variants from Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino: Collection method of the submission from Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino:
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
64 24 0 37 28 0 151 198

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
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 9 5 2
likely pathogenic 27 0 118 75 40
uncertain significance 1 1 0 20 11
benign 0 0 7 5 0

Submitter to submitter summary #

Total submitters: 62
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
GeneDx 0 28 0 19 14 0 95 128
CeGaT Center for Human Genetics Tuebingen 0 20 0 19 16 0 91 126
Eurofins Ntd Llc (ga) 0 12 0 6 6 0 73 85
Mayo Clinic Laboratories, Mayo Clinic 0 13 0 12 10 0 63 85
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 4 11 0 68 82
PreventionGenetics, part of Exact Sciences 0 12 0 12 10 0 44 66
Athena Diagnostics 0 13 0 9 9 0 48 65
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 11 0 4 7 0 33 44
Ambry Genetics 0 4 0 2 5 0 34 41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 7 0 4 6 0 30 40
Revvity Omics, Revvity 0 11 0 9 2 0 28 39
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 4 0 31 35
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 4 0 29 34
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 3 0 5 4 0 23 32
Clinical Genetics, Academic Medical Center 0 5 0 2 4 0 23 29
Labcorp Genetics (formerly Invitae), Labcorp 0 1 0 6 4 0 16 26
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 3 0 21 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 4 2 0 17 23
Genetic Services Laboratory, University of Chicago 0 4 0 2 4 0 17 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 3 0 1 2 0 19 22
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 3 0 3 4 0 11 18
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 3 0 2 3 0 8 13
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 3 0 2 2 0 4 8
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2 0 3 7
Clinical Genetics Laboratory, Skane University Hospital Lund 0 6 0 3 0 0 3 6
Illumina Laboratory Services, Illumina 0 5 0 3 1 0 2 6
AiLife Diagnostics, AiLife Diagnostics 0 4 0 3 1 0 1 5
Dasa 0 4 0 4 0 0 1 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 4 0 1 2 0 2 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 5 0 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 4 0 2 1 0 1 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 2 0 0 2 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 3 0 0 1 4
Mendelics 0 0 0 0 0 0 4 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 1 1 0 2 4
Centre of Medical Genetics, University Hospital Muenster 0 3 0 1 0 0 2 3
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 0 0 2 3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 3 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 0 0 0 2 2
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 2 0 1 1 0 0 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 0 2
OMIM 0 0 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Blueprint Genetics 0 0 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 3 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 285 0 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 1 1
Variantyx, Inc. 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00772
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00503
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00433
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00356
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00277
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00276
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00224
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00188
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00186
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00180
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00149
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00127
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00115
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00101
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00089
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00085
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_002972.4(SBF1):c.5630C>T (p.Pro1877Leu) rs200103683 0.00077
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_004993.6(ATXN3):c.776-3C>T rs201992162 0.00073
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00073
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg) rs765666942 0.00072
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00070
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00064
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00054
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00049
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00044
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00041
NM_002972.4(SBF1):c.3250C>A (p.Pro1084Thr) rs368077071 0.00038
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00036
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00031
NM_170606.3(KMT2C):c.12239T>C (p.Ile4080Thr) rs150192787 0.00031
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00025
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057 0.00021
NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=) rs149554388 0.00021
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00019
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00013
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_000304.4(PMP22):c.*33G>A rs201128796 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu) rs749516637 0.00010
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00010
NM_170606.3(KMT2C):c.12433C>T (p.Arg4145Cys) rs201100798 0.00010
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln) rs142774907 0.00009
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002972.4(SBF1):c.1431+5G>A rs749969385 0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00008
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_002972.4(SBF1):c.4058A>G (p.Tyr1353Cys) rs373208315 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_002972.4(SBF1):c.1431C>T (p.Asn477=) rs371569398 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00005
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00005
NM_002972.4(SBF1):c.3592C>T (p.Arg1198Cys) rs371049751 0.00005
NM_002972.4(SBF1):c.4708C>T (p.Arg1570Cys) rs375660466 0.00005
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_001267550.2(TTN):c.33742+1G>T rs772114165 0.00003
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00003
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_002972.4(SBF1):c.1734G>T (p.Met578Ile) rs757701114 0.00002
NM_002972.4(SBF1):c.4009G>A (p.Gly1337Arg) rs1209932612 0.00002
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000304.4(PMP22):c.103G>A (p.Ala35Thr) rs750000952 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.68786C>T (p.Ser22929Leu) rs764365298 0.00001
NM_001267550.2(TTN):c.68824+5G>C rs749639627 0.00001
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002972.4(SBF1):c.3394C>T (p.Arg1132Cys) rs375823291 0.00001
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln) rs759218298 0.00001
NM_006158.5(NEFL):c.400C>T (p.Arg134Cys) rs1010413936 0.00001
NM_006329.4(FBLN5):c.161G>A (p.Arg54Gln) rs759434738 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096 0.00001
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly) rs1169028062 0.00001
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000371.4(TTR):c.310A>C (p.Ile104Leu) rs781345808
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp) rs1328991757
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002972.4(SBF1):c.4654G>A (p.Asp1552Asn)
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) rs758376967
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_007118.4(TRIO):c.7379C>T (p.Pro2460Leu) rs771188369
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_030962.4(SBF2):c.2476G>A (p.Val826Ile) rs1564917788
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del) rs764613506
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892

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