ClinVar Miner

Variants in gene ALPL with conflicting interpretations

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
1125 247 0 150 20 0 84 237

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
pathogenic 0 133 23 0 0
likely pathogenic 133 0 73 1 0
uncertain significance 23 73 0 20 2
likely benign 0 1 20 0 17
benign 0 0 2 17 0

All variants with conflicting interpretations #

Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316 0.07448
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00792
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_000478.6(ALPL):c.473-12C>T rs147181132 0.00137
NM_000478.6(ALPL):c.997+11C>T rs187255765 0.00105
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000478.6(ALPL):c.182-15C>G rs201873253 0.00101
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00101
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00062
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330 0.00050
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00024
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289 0.00023
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00015
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00011
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00008
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 0.00006
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00005
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343 0.00005
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00005
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00002
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.1082A>G (p.Gln361Arg) rs1296355520 0.00001
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro) rs143358506 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn) rs746390776 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 0.00001
NM_000478.6(ALPL):c.1271T>C (p.Val424Ala) rs1436960562 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) rs1437787933 0.00001
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys) rs966212736 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173 0.00001
NM_000478.6(ALPL):c.1429C>T (p.Gln477Ter) rs1644755604 0.00001
NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys) rs1235350055 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.146A>G (p.Asn49Ser) rs868522953 0.00001
NM_000478.6(ALPL):c.152C>T (p.Ala51Val) rs1470389268 0.00001
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.297+6C>T rs761473320 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.352C>A (p.Leu118Met) rs1284058976 0.00001
NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) rs1291792579 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter) rs761836226 0.00001
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.532T>C (p.Tyr178His) rs1215600806 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr) rs751455369 0.00001
NM_000478.6(ALPL):c.643A>G (p.Ile215Val) rs769903299 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) rs752641050 0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr) rs1220125702 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) rs763457259 0.00001
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser) rs769955594
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1024_1025delinsTT (p.Glu342Leu)
NM_000478.6(ALPL):c.1033G>C (p.Ala345Pro)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1064T>C (p.Met355Thr)
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr) rs2545342410
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr) rs1553414611
NM_000478.6(ALPL):c.113_116del (p.Lys38fs)
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) rs771540767
NM_000478.6(ALPL):c.1151C>G (p.Thr384Arg) rs2148190082
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His) rs1644722881
NM_000478.6(ALPL):c.1162T>G (p.Tyr388Asp) rs1644722881
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.1195G>A (p.Ala399Thr)
NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser) rs2148192290
NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)
NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro) rs2545347156
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met) rs2148192444
NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp) rs2148192455
NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser) rs1644740557
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala) rs2545347491
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser) rs770548228
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp) rs2545347584
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln) rs1644741201
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) rs1131691372
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu) rs1054159992
NM_000478.6(ALPL):c.1399A>G (p.Met467Val)
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr) rs780857373
NM_000478.6(ALPL):c.1447G>A (p.Val483Met)
NM_000478.6(ALPL):c.1451T>G (p.Met484Arg) rs1558558939
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) rs868522953
NM_000478.6(ALPL):c.1471G>C (p.Gly491Arg)
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1487A>G (p.His496Arg) rs1644757200
NM_000478.6(ALPL):c.1491_1492del (p.Ala498fs)
NM_000478.6(ALPL):c.1503C>T (p.Ser501=) rs1644757548
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.17T>C (p.Leu6Ser)
NM_000478.6(ALPL):c.182-1G>A
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) rs1644478359
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.21_32delinsGTGT (p.Leu8fs) rs1644366950
NM_000478.6(ALPL):c.223G>A (p.Gly75Ser) rs1304394441
NM_000478.6(ALPL):c.244G>A (p.Gly82Arg) rs2545292224
NM_000478.6(ALPL):c.244G>C (p.Gly82Arg) rs2545292224
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.286G>C (p.Ala96Pro) rs2545292484
NM_000478.6(ALPL):c.297+1G>A
NM_000478.6(ALPL):c.297+5G>A rs776187726
NM_000478.6(ALPL):c.2T>C (p.Met1Thr)
NM_000478.6(ALPL):c.304_312dup (p.Asn104_Ala105insAsnThrAsn)
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.344C>T (p.Thr115Ile) rs2545298833
NM_000478.6(ALPL):c.361G>A (p.Val121Met) rs1476072388
NM_000478.6(ALPL):c.379A>G (p.Thr127Ala) rs1570273880
NM_000478.6(ALPL):c.380C>T (p.Thr127Ile)
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr) rs1644511209
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) rs2148135377
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln) rs138587317
NM_000478.6(ALPL):c.443C>T (p.Thr148Ile) rs1376937780
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.495CAC[1] (p.Thr167del) rs2545303392
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) rs2148161378
NM_000478.6(ALPL):c.50C>T (p.Ser17Phe)
NM_000478.6(ALPL):c.518C>T (p.Thr173Ile) rs2545303612
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys) rs2545303934
NM_000478.6(ALPL):c.567C>A (p.Asp189Glu)
NM_000478.6(ALPL):c.62-1G>C
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.644T>C (p.Ile215Thr)
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.653T>C (p.Ile218Thr)
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile) rs2545317046
NM_000478.6(ALPL):c.675_676insCA (p.Met226fs) rs2545317081
NM_000478.6(ALPL):c.69_74del rs2148150789
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.793-10T>C rs1114167436
NM_000478.6(ALPL):c.793-16_793-15del rs763290941
NM_000478.6(ALPL):c.793-30_793-11del rs2545324149
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) rs781272386
NM_000478.6(ALPL):c.82T>G (p.Tyr28Asp)
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter) rs2545324707
NM_000478.6(ALPL):c.862+6T>C rs956701286
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.880G>A (p.Asp294Asn) rs1553414079
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000478.6(ALPL):c.928dup (p.Ser310fs)
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.969C>A (p.Asn323Lys) rs2148184754
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000478.6(ALPL):c.997+2T>G rs1057517391
NM_000478.6(ALPL):c.997+3A>C rs1553414147
NM_000478.6(ALPL):c.997+3A>G rs1553414147

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