ClinVar Miner

Variants with conflicting interpretations studied for Tip-toe gait

Coded as:
Minimum review status of the submission for Tip-toe gait: Collection method of the submission for Tip-toe gait:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
66 23 0 31 19 2 133 173

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 conditions
Tip-toe gait pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 5 7 5 2 0
likely pathogenic 25 0 107 71 38 0
uncertain significance 0 0 0 18 10 1
benign 0 0 0 1 0 0
pathogenic, low penetrance 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 41
Download table as spreadsheet
Condition 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
not provided 0 22 0 28 17 1 130 167
not specified 0 9 0 0 11 0 72 83
Cardiovascular phenotype 0 4 0 2 4 0 28 34
TTN-related disorder 0 0 0 0 4 0 13 17
POLG-related disorder 0 2 0 3 1 0 3 7
POLG-Related Spectrum Disorders 0 2 0 2 1 0 3 6
COL6A3-related disorder 0 0 0 0 2 0 2 4
CREBBP-related disorder 0 0 0 0 0 0 4 4
See cases 0 2 0 2 0 0 2 4
PYGM-related disorder 0 0 0 2 0 0 1 3
SBF2-related disorder 0 0 0 0 0 0 3 3
ATM-related disorder 0 1 0 2 0 0 0 2
CLCN1-related disorder 0 1 0 2 0 0 0 2
COL6A2-related disorder 0 0 0 0 0 0 2 2
Limb-girdle muscular dystrophy, recessive 0 0 0 0 0 0 2 2
SBF1-related disorder 0 0 0 0 0 0 2 2
SH3TC2-related disorder 0 2 0 0 0 0 2 2
Spastic paraplegia 0 0 0 0 0 0 2 2
Supraventricular tachycardia 0 0 0 0 0 0 2 2
ZFYVE26-related disorder 0 0 0 0 0 0 2 2
ATXN3-related disorder 0 0 0 0 1 0 0 1
Abnormality of the musculature 0 0 0 1 0 0 0 1
Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 0 0 0 1 0 0 0 1
Amyloid Cardiomyopathy, Transthyretin-related 0 0 0 1 0 0 0 1
Breast and/or ovarian cancer 0 5 0 0 0 0 1 1
Breast cancer, susceptibility to 0 0 0 0 0 1 0 1
CHRNE-related disorder 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 1a, autosomal recessive 0 0 0 1 0 0 0 1
Delayed speech and language development; Pes cavus; Tip-toe gait; limited range of motion of the upper ankle 0 0 0 0 0 0 1 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
High myopia 0 0 0 0 0 0 1 1
KMT2C-related disorder 0 0 0 0 0 0 1 1
Limb-Girdle Muscular Dystrophy, Dominant 0 0 0 0 0 0 1 1
MED25-related disorder 0 0 0 0 0 0 1 1
MFN2-related disorder 0 0 0 1 0 0 0 1
Myotonia 0 0 0 1 0 0 0 1
OPA1-related disorder 0 0 0 1 0 0 0 1
PMP22-related disorder 0 0 0 0 0 0 1 1
PRX-related disorder 0 0 0 0 1 0 0 1
TRIO-related disorder 0 0 0 0 0 0 1 1
TTR-related disorder 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 173
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 0.00817
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_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
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 0.00359
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 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
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_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
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_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
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 0.00124
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 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_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 0.00105
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
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_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_004993.6(ATXN3):c.776-3C>T rs201992162 0.00073
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
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_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_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 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_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_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
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_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=) rs149554388 0.00021
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
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_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 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_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
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_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 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_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_170606.3(KMT2C):c.12433C>T (p.Arg4145Cys) rs201100798 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_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 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_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 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_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
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_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 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_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_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 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_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 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_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096 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.1039G>A (p.Gly347Ser) rs977960069
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_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_006329.4(FBLN5):c.161G>A (p.Arg54Gln) rs759434738
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

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.