ClinVar Miner

Variants in gene GALC with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

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
1195 161 0 115 49 3 39 186

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.

pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 101 17 1 1 0
likely pathogenic 100 0 33 2 2 0
uncertain significance 17 33 0 47 7 0
likely benign 1 2 47 0 15 0
benign 1 2 7 15 0 3
other 0 0 0 0 3 0

All variants with conflicting interpretations #

Total variants: 186
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49249
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03875
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00449
NM_000153.4(GALC):c.-66G>T rs146439771 0.00434
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00345
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377 0.00321
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00231
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.-327G>T rs185943390 0.00119
NM_000153.4(GALC):c.1489+3G>A rs186664912 0.00115
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00044
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00036
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00030
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00018
NM_000153.4(GALC):c.708C>T (p.Ser236=) rs773666802 0.00017
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535 0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.1803A>G (p.Ala601=) rs372465848 0.00009
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00007
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00007
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.265-2A>G rs199710405 0.00005
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00003
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.583-4G>T rs751820306 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr) rs1376496659 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu) rs1365128831 0.00001
NM_000153.4(GALC):c.1269A>G (p.Leu423=) rs756070678 0.00001
NM_000153.4(GALC):c.1443A>G (p.Pro481=) rs1359281521 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg) rs779864190 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.236G>A (p.Arg79His) rs370117160 0.00001
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867 0.00001
NM_000153.4(GALC):c.328+1G>T rs779701490 0.00001
NM_000153.4(GALC):c.329-6A>G rs1279980405 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000153.4(GALC):c.332G>A (p.Gly111Asp) rs746487628 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.516_517del (p.Tyr173fs) rs1265628439 0.00001
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.583-9del rs1886782078 0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380 0.00001
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
NC_000014.9:g.87925163_87956828del
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1034-1G>C rs955287913
NM_000153.4(GALC):c.1034-2A>G rs2503431601
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1127_1131delinsACTGAT (p.Gly376_Leu377delinsAspTer)
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1167T>C (p.His389=) rs2139963723
NM_000153.4(GALC):c.1230del (p.Phe411fs) rs1885266215
NM_000153.4(GALC):c.1252-1G>C rs2139961690
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1282A>G (p.Thr428Ala) rs2503372037
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro) rs2503363485
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) rs1566974586
NM_000153.4(GALC):c.1398C>T (p.Leu466=) rs2139956617
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.1407C>A (p.Leu469=) rs2503363127
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter) rs1885132066
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1717dup (p.Thr573fs) rs2503340945
NM_000153.4(GALC):c.1749T>C (p.Asn583=) rs2503340749
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp) rs776098499
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1853del (p.Ala618fs) rs2139937977
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs) rs1884764754
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.19_20del (p.Ser7fs) rs1887303860
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro) rs1884498480
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs) rs2139925505
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs) rs754507781
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln) rs1406731723
NM_000153.4(GALC):c.216A>G (p.Val72=) rs2139759473
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.328+1G>A rs779701490
NM_000153.4(GALC):c.328+2T>G
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.432_433dup (p.Thr145fs) rs2139754606
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.516C>T (p.Ala172=) rs1248283732
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000153.4(GALC):c.582+10A>G rs751190201
NM_000153.4(GALC):c.582+7A>G rs2139749320
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.63G>T (p.Ala21=) rs756641128
NM_000153.4(GALC):c.655C>T (p.Gln219Ter) rs2503477272
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.674dup (p.Ser226fs) rs1886496591
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.750A>G (p.Ile250Met) rs2140016054
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.818C>T (p.Ser273Phe)
NM_000153.4(GALC):c.821A>C (p.Glu274Ala) rs2140001660
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.896G>A (p.Gly299Asp) rs1566993126
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.909-3del rs1212915595
NM_000153.4(GALC):c.941A>G (p.Tyr314Cys) rs1595215209
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.947_950dup (p.Pro318fs) rs2139996377
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.967G>T (p.Gly323Trp) rs1472207768
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761

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