ClinVar Miner

Variants in gene GALNS 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
892 127 0 106 29 1 77 189

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 association not found
pathogenic 0 92 42 1 0 1
likely pathogenic 92 0 52 1 0 1
uncertain significance 42 52 0 23 10 0
likely benign 1 1 23 0 14 0
benign 0 0 10 14 0 0
association not found 1 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 189
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02015
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.00952
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00908
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00774
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00733
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00297
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00090
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00072
NM_000512.5(GALNS):c.633+22T>C rs201579340 0.00068
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00053
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00032
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.685T>C (p.Tyr229His) rs151165725 0.00018
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00013
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00010
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00008
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00007
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00007
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00005
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00004
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 0.00002
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.121A>T (p.Met41Leu) rs1283377907 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.433C>T (p.His145Tyr) rs577334837 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr) rs2142995734
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr) rs2142993806
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter) rs1567519109
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1242+1G>C rs2142993764
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu) rs2142992401
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs) rs1910359431
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs) rs778286877
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys) rs1303492021
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.177G>A (p.Leu59=) rs1967036891
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg) rs1967035346
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.235_236del (p.Cys79fs) rs2143005467
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys) rs2143002473
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer) rs1912290012
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu) rs2143002376
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter) rs2543548949
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.566+3A>C
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr) rs569725936
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226
NM_000512.5(GALNS):c.675_676del (p.Phe227fs) rs2143001422
NM_000512.5(GALNS):c.675dup (p.Phe226fs) rs1480024542
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.899-167A>G rs2142999330
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696

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