ClinVar Miner

Variants with conflicting interpretations studied for Arterial tortuosity syndrome

Coded as:
Minimum review status of the submission for Arterial tortuosity syndrome: Y axis collection method of the submission for Arterial tortuosity syndrome:
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
93 39 0 23 20 0 5 38

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
Arterial tortuosity syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 4 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 4 5 0 15 8
likely benign 0 0 8 0 15
benign 0 0 5 8 0

Condition to condition summary #

Total conditions: 5
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 specified 0 10 0 16 17 0 1 30
Arterial tortuosity syndrome 143 11 0 7 8 0 4 16
Cardiovascular phenotype 0 25 0 11 7 0 3 16
not provided 0 21 0 6 6 0 2 11
Thoracic aortic aneurysm and aortic dissection 0 3 0 4 2 0 1 6

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_030777.4(SLC2A10):c.-15C>T rs377142129
NM_030777.4(SLC2A10):c.-27C>T rs149481442
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) rs199912561
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=) rs148424607
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112
NM_030777.4(SLC2A10):c.873G>A (p.Val291=) rs755197578

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