ClinVar Miner

Variants in gene POMT2 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:
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 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
459 37 0 17 17 0 0 31

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 17 3
likely benign 0 0 17 0 16
benign 0 0 3 16 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
NM_013382.5(POMT2):c.1007-32G>A rs79509556
NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) rs1026361359
NM_013382.5(POMT2):c.1206A>C (p.Pro402=) rs142479943
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1726-9A>T rs747493997
NM_013382.5(POMT2):c.1743G>A (p.Gly581=) rs755254043
NM_013382.5(POMT2):c.1786-39C>T rs438931
NM_013382.5(POMT2):c.1786-8C>T rs953851097
NM_013382.5(POMT2):c.1824C>T (p.Tyr608=) rs759220971
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818
NM_013382.5(POMT2):c.2127G>A (p.Leu709=) rs138142899
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.648C>T (p.Cys216=) rs147871747
NM_013382.5(POMT2):c.651C>T (p.Ala217=) rs147845081
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.795C>T (p.Phe265=) rs765276419
NM_013382.5(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1654-6A>G rs4540995

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