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 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
382 47 0 10 20 0 2 32

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 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 19 1
likely benign 0 0 19 0 9
benign 0 0 1 9 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
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.1565G>A (p.Gly522Glu) rs199826737
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638
NM_014714.4(IFT140):c.3271-4G>A rs200815296
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165
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.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139

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