ClinVar Miner

Variants in gene DYSF 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:
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 Variants with at least 2 submissions 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 kind of conflict
606 245 0 96 81 1 20 175

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 risk factor
pathogenic 0 32 5 1 1 0
likely pathogenic 33 0 14 5 1 1
uncertain significance 5 13 0 77 18 0
likely benign 1 5 77 0 63 0
benign 1 1 18 63 0 0

All variants with conflicting interpretations #

Total variants: 175
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_001130987.1(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.1(DYSF):c.4261G>A (p.Val1421Ile) rs767049254
NM_003494.3(DYSF):c.1049C>T (p.Ala350Val) rs115279465
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1053T>G (p.Pro351=) rs199955501
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.1129C>T (p.Arg377Ter) rs758180890
NM_003494.3(DYSF):c.1180+11C>T rs35982795
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1192G>A (p.Val398Met) rs144202114
NM_003494.3(DYSF):c.1215C>T (p.Ile405=) rs148697028
NM_003494.3(DYSF):c.1284+6G>C rs75796187
NM_003494.3(DYSF):c.1311G>A (p.Thr437=) rs150093305
NM_003494.3(DYSF):c.1351A>G (p.Met451Val) rs141818764
NM_003494.3(DYSF):c.1353+7C>T rs199608017
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1398-1G>A rs398123768
NM_003494.3(DYSF):c.1422C>A (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1422C>T (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1522+15C>G rs76402294
NM_003494.3(DYSF):c.1523-10T>C rs371967475
NM_003494.3(DYSF):c.1555G>A (p.Gly519Arg) rs121908962
NM_003494.3(DYSF):c.1572C>T (p.Asn524=) rs139495331
NM_003494.3(DYSF):c.1639-6T>A rs886039573
NM_003494.3(DYSF):c.1668_1669insGTT (p.Leu556_Leu557insVal) rs1446214240
NM_003494.3(DYSF):c.1683G>A (p.Glu561=) rs370872013
NM_003494.3(DYSF):c.1731G>A (p.Ala577=) rs35984374
NM_003494.3(DYSF):c.1827T>C (p.Asp609=) rs2303596
NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.1877T>C (p.Met626Thr) rs141867897
NM_003494.3(DYSF):c.1890G>A (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.1890G>T (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.1980G>A (p.Val660=) rs138111360
NM_003494.3(DYSF):c.202G>C (p.Val68Leu) rs114986640
NM_003494.3(DYSF):c.2053C>G (p.Leu685Val) rs74423119
NM_003494.3(DYSF):c.206T>G (p.Val69Gly) rs886042878
NM_003494.3(DYSF):c.2105C>T (p.Thr702Met) rs775539496
NM_003494.3(DYSF):c.2163-11G>A rs200853014
NM_003494.3(DYSF):c.2163-2A>G rs747289205
NM_003494.3(DYSF):c.2203C>A (p.His735Asn) rs202123283
NM_003494.3(DYSF):c.222G>A (p.Thr74=) rs200957354
NM_003494.3(DYSF):c.2280C>T (p.Leu760=) rs116204385
NM_003494.3(DYSF):c.2316G>A (p.Ala772=) rs553605812
NM_003494.3(DYSF):c.2355+14G>A rs141170955
NM_003494.3(DYSF):c.2355+1G>A rs151317754
NM_003494.3(DYSF):c.2367C>T (p.Ser789=) rs560856407
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.2568G>A (p.Leu856=) rs191337920
NM_003494.3(DYSF):c.2583A>T (p.Ser861=) rs2288355
NM_003494.3(DYSF):c.2588A>C (p.Asp863Ala) rs35884879
NM_003494.3(DYSF):c.2619G>A (p.Gly873=) rs530181166
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2652C>T (p.Asn884=) rs398123775
NM_003494.3(DYSF):c.2763G>A (p.Ser921=) rs148902254
NM_003494.3(DYSF):c.2766C>T (p.Ala922=) rs373328706
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.2802G>A (p.Pro934=) rs34836829
NM_003494.3(DYSF):c.2810+1G>A rs199954546
NM_003494.3(DYSF):c.2810+8G>A rs371686795
NM_003494.3(DYSF):c.2811-2A>C rs886043964
NM_003494.3(DYSF):c.2811-7_2811-5delTCC rs761299898
NM_003494.3(DYSF):c.2926-15C>T rs148732505
NM_003494.3(DYSF):c.2928C>T (p.Asn976=) rs142404822
NM_003494.3(DYSF):c.2948A>C (p.Lys983Thr) rs34061568
NM_003494.3(DYSF):c.2974T>C (p.Trp992Arg) rs750028300
NM_003494.3(DYSF):c.3032-17G>T rs3764971
NM_003494.3(DYSF):c.3032-9C>T rs185350547
NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys) rs756328339
NM_003494.3(DYSF):c.3057C>T (p.Pro1019=) rs143475751
NM_003494.3(DYSF):c.3060G>A (p.Pro1020=) rs398123778
NM_003494.3(DYSF):c.3065G>A (p.Arg1022Gln) rs34211915
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3137G>A (p.Arg1046His) rs121908958
NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) rs398123779
NM_003494.3(DYSF):c.3213C>T (p.Tyr1071=) rs150355624
NM_003494.3(DYSF):c.3249C>T (p.Tyr1083=) rs201477760
NM_003494.3(DYSF):c.3283C>T (p.Arg1095Cys) rs141536854
NM_003494.3(DYSF):c.3287G>A (p.Arg1096His) rs59915619
NM_003494.3(DYSF):c.3289C>T (p.Arg1097Cys) rs147483765
NM_003494.3(DYSF):c.3349-10G>A rs116733194
NM_003494.3(DYSF):c.339delA (p.Ala115Profs) rs886042379
NM_003494.3(DYSF):c.3423G>A (p.Thr1141=) rs576460368
NM_003494.3(DYSF):c.3444T>A (p.Tyr1148Ter) rs758944159
NM_003494.3(DYSF):c.3517dupT (p.Ser1173Phefs) rs766341386
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.3624C>G (p.Ile1208Met) rs148858485
NM_003494.3(DYSF):c.3624C>T (p.Ile1208=) rs148858485
NM_003494.3(DYSF):c.3702+9G>T rs191746041
NM_003494.3(DYSF):c.3702T>C (p.Tyr1234=) rs141720146
NM_003494.3(DYSF):c.3725G>A (p.Arg1242His) rs2303603
NM_003494.3(DYSF):c.375G>A (p.Pro125=) rs377056951
NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) rs139983909
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.3844-4C>G rs555206040
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.3914C>A (p.Thr1305Lys) rs116426399
NM_003494.3(DYSF):c.393C>T (p.Pro131=) rs34603128
NM_003494.3(DYSF):c.394C>T (p.Leu132=) rs886043009
NM_003494.3(DYSF):c.3972C>T (p.Asn1324=) rs11558179
NM_003494.3(DYSF):c.3973A>G (p.Ile1325Val) rs145401010
NM_003494.3(DYSF):c.3992G>T (p.Arg1331Leu) rs61742872
NM_003494.3(DYSF):c.4008C>A (p.Ile1336=) rs2303606
NM_003494.3(DYSF):c.401C>T (p.Pro134Leu) rs773837400
NM_003494.3(DYSF):c.4024C>T (p.Arg1342Trp) rs199870606
NM_003494.3(DYSF):c.4052A>G (p.Asn1351Ser) rs139529811
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.407delC (p.Pro136Leufs) rs886043342
NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) rs145412880
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.4200C>T (p.Pro1400=) rs142769942
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.426C>T (p.Ser142=) rs115390288
NM_003494.3(DYSF):c.4323G>A (p.Gln1441=) rs76576806
NM_003494.3(DYSF):c.4335C>T (p.Asp1445=) rs61746816
NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) rs145690047
NM_003494.3(DYSF):c.4376A>G (p.Asp1459Gly) rs61738567
NM_003494.3(DYSF):c.4408C>T (p.Gln1470Ter) rs886044411
NM_003494.3(DYSF):c.4425C>T (p.Ile1475=) rs148055736
NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter) rs766016391
NM_003494.3(DYSF):c.4443C>T (p.Phe1481=) rs544993852
NM_003494.3(DYSF):c.4504C>T (p.Leu1502=) rs7573406
NM_003494.3(DYSF):c.4510G>A (p.Val1504Ile) rs143895253
NM_003494.3(DYSF):c.4512C>G (p.Val1504=) rs142483266
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.3(DYSF):c.4731G>A (p.Glu1577=) rs62145939
NM_003494.3(DYSF):c.4742G>A (p.Arg1581His) rs185596534
NM_003494.3(DYSF):c.4820T>C (p.Ile1607Thr) rs146384562
NM_003494.3(DYSF):c.4866G>T (p.Thr1622=) rs142301132
NM_003494.3(DYSF):c.4876G>A (p.Val1626Ile) rs147056383
NM_003494.3(DYSF):c.4886+1249G>T rs886042110
NM_003494.3(DYSF):c.4893C>T (p.Phe1631=) rs151276652
NM_003494.3(DYSF):c.4941C>A (p.Leu1647=) rs141476432
NM_003494.3(DYSF):c.4977C>T (p.Ile1659=) rs149087116
NM_003494.3(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003494.3(DYSF):c.5022delT (p.Phe1674Leufs) rs1057519132
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.3(DYSF):c.5083C>T (p.Gln1695Ter) rs886044422
NM_003494.3(DYSF):c.509C>A (p.Ala170Glu) rs34999029
NM_003494.3(DYSF):c.5149C>T (p.Arg1717Trp) rs148541407
NM_003494.3(DYSF):c.5302C>T (p.Arg1768Trp) rs746243052
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_003494.3(DYSF):c.5361C>T (p.Val1787=) rs145143725
NM_003494.3(DYSF):c.5386C>T (p.Arg1796Trp) rs139879284
NM_003494.3(DYSF):c.5444G>T (p.Cys1815Phe) rs886042584
NM_003494.3(DYSF):c.5508C>T (p.Ser1836=) rs577921112
NM_003494.3(DYSF):c.5625C>T (p.Phe1875=) rs769289729
NM_003494.3(DYSF):c.5626G>A (p.Asp1876Asn) rs115013641
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_003494.3(DYSF):c.565C>G (p.Leu189Val) rs13407355
NM_003494.3(DYSF):c.5668-7G>A rs753861836
NM_003494.3(DYSF):c.570T>C (p.Pro190=) rs35392229
NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) rs17718530
NM_003494.3(DYSF):c.594C>T (p.Pro198=) rs376293526
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_003494.3(DYSF):c.6057-8G>A rs777167646
NM_003494.3(DYSF):c.6057-9C>T rs201070766
NM_003494.3(DYSF):c.6057G>A (p.Arg2019=) rs143762717
NM_003494.3(DYSF):c.6063C>T (p.Pro2021=) rs147263499
NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys) rs121908955
NM_003494.3(DYSF):c.6204+15C>T rs2559082
NM_003494.3(DYSF):c.676G>A (p.Val226Met) rs150345121
NM_003494.3(DYSF):c.790G>T (p.Glu264Ter) rs794727851
NM_003494.3(DYSF):c.792+11T>C rs13428076
NM_003494.3(DYSF):c.855+39T>C rs74384941
NM_003494.3(DYSF):c.855+4T>C rs11903960
NM_003494.3(DYSF):c.894C>T (p.Leu298=) rs140809078
NM_003494.3(DYSF):c.895G>A (p.Gly299Arg) rs121908963
NM_003494.3(DYSF):c.942C>T (p.His314=) rs36122356

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