ClinVar Miner

Variants in gene IFT122 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
156 22 6 9 6 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 6 1 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 5 1
likely benign 0 0 5 0 8
benign 0 0 1 8 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala) rs191420441
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690
NM_052989.3(IFT122):c.1992+7A>G rs757823317
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307
NM_052989.3(IFT122):c.349+5G>A rs376595844
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192
NM_052989.3(IFT122):c.978G>A (p.Thr326=) rs781409395

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