ClinVar Miner

Variants with conflicting interpretations studied for Walker-Warburg congenital muscular dystrophy

Coded as:
Minimum review status of the submission for Walker-Warburg congenital muscular dystrophy: Y axis collection method of the submission for Walker-Warburg congenital muscular dystrophy:
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 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
94 58 0 23 25 0 5 46

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
Walker-Warburg congenital muscular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 2 1 0 1 0
likely benign 0 0 18 0 3
benign 1 0 6 13 0

Condition to condition summary #

Total conditions: 11
Download table as spreadsheet
Condition 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
not provided 0 53 0 3 19 0 1 23
not specified 0 18 0 16 7 0 0 23
Fukuyama congenital muscular dystrophy 0 5 0 1 5 0 1 7
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 0 12 0 2 1 0 2 5
Dilated Cardiomyopathy, Recessive 0 3 0 0 4 0 0 4
Cardiomyopathy 0 3 0 1 1 0 0 2
Cardiovascular phenotype 0 12 0 2 0 0 0 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 0 1 0 1 0 0 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 0 2 0 0 0 0 1 1
Muscular dystrophy-dystroglycanopathy 0 1 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_001079802.1(FKTN):c.106-10G>A rs148384394
NM_001079802.1(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001079802.1(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.1(FKTN):c.166-6A>G rs41277795
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.1(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_001079802.1(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.1(FKTN):c.642dupT (p.Asp215Terfs) rs398123557
NM_001079802.1(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.1(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.1(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.1(FKTN):c.781-9T>C rs370564232
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.1317_1318dupTC (p.Pro440Leufs) rs886042778
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_014254.2(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_024301.4(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.4(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.4(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.4(FKRP):c.1141dup (p.Ala381Glyfs) rs754403441
NM_024301.4(FKRP):c.1154C>T (p.Ser385Leu) rs104894680
NM_024301.4(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.4(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.4(FKRP):c.1405C>T (p.Leu469=) rs143129484
NM_024301.4(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.4(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.4(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.4(FKRP):c.266C>T (p.Pro89Leu) rs770711331
NM_024301.4(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.4(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.4(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.4(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.4(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024301.4(FKRP):c.582G>A (p.Leu194=) rs771223960
NM_024301.4(FKRP):c.606G>A (p.Leu202=) rs140084192
NM_024301.4(FKRP):c.636G>A (p.Ala212=) rs370099812
NM_024301.4(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.4(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024301.4(FKRP):c.885C>T (p.Arg295=) rs769005880
NM_024301.4(FKRP):c.954C>T (p.Cys318=) rs755968761
NM_024301.4(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024301.4(FKRP):c.970G>T (p.Glu324Ter) rs886044183

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