ClinVar Miner

Variants in gene NSDHL 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
42 7 5 4 3 0 1 13

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 5 0 0 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 0 1 0 3 0
likely benign 0 0 3 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.267+7G>A rs184536370
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) rs200930841
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015922.3(NSDHL):c.816C>A (p.Pro272=) rs1328593149
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_015922.3(NSDHL):c.942C>T (p.Ile314=) rs35375481

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