ClinVar Miner

Variants in gene GFM1 with conflicting interpretations

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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
84 5 0 11 11 0 2 21

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 3 1 0 0
likely pathogenic 3 0 0 1 0
uncertain significance 1 0 0 6 8
likely benign 0 1 6 0 8
benign 0 0 8 8 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_024996.5(GFM1):c.-11C>T rs112860155
NM_024996.5(GFM1):c.-31A>G rs28372853
NM_024996.5(GFM1):c.-38C>T rs377352238
NM_024996.5(GFM1):c.1032C>T (p.Asn344=) rs373952002
NM_024996.5(GFM1):c.1083+6T>G rs142919829
NM_024996.5(GFM1):c.127A>G (p.Asn43Asp) rs35942089
NM_024996.5(GFM1):c.1324-15T>A rs375168014
NM_024996.5(GFM1):c.1601+9G>C rs77186707
NM_024996.5(GFM1):c.1990G>A (p.Val664Ile) rs62288347
NM_024996.5(GFM1):c.2011C>T (p.Arg671Cys) rs201408725
NM_024996.5(GFM1):c.2190C>T (p.Asp730=) rs149049400
NM_024996.5(GFM1):c.235-14G>A rs201304690
NM_024996.5(GFM1):c.424del (p.Val142fs) rs886058120
NM_024996.5(GFM1):c.476A>G (p.Asn159Ser) rs34297061
NM_024996.5(GFM1):c.521A>G (p.Asn174Ser) rs119470018
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_024996.5(GFM1):c.689+908G>A rs751069628
NM_024996.5(GFM1):c.690-5C>G rs201685981
NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) rs139430866
NM_024996.5(GFM1):c.77A>G (p.Lys26Arg) rs574200635
NM_024996.5(GFM1):c.960A>C (p.Pro320=) rs145970222

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