ClinVar Miner

Variants in gene IFT140 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
114 9 0 14 8 0 1 22

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 5 4
likely benign 0 5 0 14
benign 0 4 14 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_014714.4(IFT140):c.*2G>A rs144879630
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390
NM_014714.4(IFT140):c.3943_3948GCCAAG[2] (p.1315_1316AK[2]) rs746697405
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417
NM_014714.4(IFT140):c.4040+10C>T rs138364426
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) rs61749517

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