ClinVar Miner

Variants in gene RAI1 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 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
183 24 0 22 22 0 1 41

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 uncertain significance likely benign benign
pathogenic 0 0 1 0
uncertain significance 0 0 21 5
likely benign 1 21 0 22
benign 0 5 22 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_030665.3(RAI1):c.1279C>T (p.Leu427=) rs34898721
NM_030665.3(RAI1):c.1524G>A (p.Thr508=) rs141826168
NM_030665.3(RAI1):c.1538A>G (p.Gln513Arg) rs147091667
NM_030665.3(RAI1):c.1775G>A (p.Arg592Gln) rs141808855
NM_030665.3(RAI1):c.1850C>A (p.Ala617Asp) rs549244691
NM_030665.3(RAI1):c.1941C>T (p.Ser647=) rs140198185
NM_030665.3(RAI1):c.1992G>A (p.Pro664=) rs8067439
NM_030665.3(RAI1):c.264G>A (p.Gln88=) rs61999281
NM_030665.3(RAI1):c.269G>C (p.Gly90Ala) rs3803763
NM_030665.3(RAI1):c.2728T>G (p.Ser910Ala)
NM_030665.3(RAI1):c.2907C>T (p.Asp969=) rs141757356
NM_030665.3(RAI1):c.3030C>A (p.Ala1010=) rs542714936
NM_030665.3(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061
NM_030665.3(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.3(RAI1):c.3357C>T (p.Ser1119=) rs139448147
NM_030665.3(RAI1):c.3589G>C (p.Gly1197Arg)
NM_030665.3(RAI1):c.3781_3783delGAG (p.Glu1261del) rs149716029
NM_030665.3(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483
NM_030665.3(RAI1):c.4043C>T (p.Ala1348Val) rs143396390
NM_030665.3(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375
NM_030665.3(RAI1):c.4311T>C (p.Pro1437=) rs4925112
NM_030665.3(RAI1):c.4512G>T (p.Leu1504=) rs117995220
NM_030665.3(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274
NM_030665.3(RAI1):c.4530C>T (p.Pro1510=) rs35686634
NM_030665.3(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738
NM_030665.3(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462
NM_030665.3(RAI1):c.4693G>A (p.Val1565Met) rs368106957
NM_030665.3(RAI1):c.493C>A (p.Pro165Thr) rs11649804
NM_030665.3(RAI1):c.5036C>T (p.Ala1679Val) rs142981643
NM_030665.3(RAI1):c.516C>A (p.His172Gln) rs147481626
NM_030665.3(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135
NM_030665.3(RAI1):c.5601T>C (p.Ile1867=) rs3818717
NM_030665.3(RAI1):c.610C>T (p.Pro204Ser) rs138332224
NM_030665.3(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030665.3(RAI1):c.776C>T (p.Pro259Leu) rs758661378
NM_030665.3(RAI1):c.852_872del21 (p.Gln285_Gln291del) rs371983878
NM_030665.3(RAI1):c.861_872delGCAGCAGCAGCA (p.Gln288_Gln291del) rs371983878
NM_030665.3(RAI1):c.861_872dupGCAGCAGCAGCA (p.Gln291_Ala292insGlnGlnGlnGln) rs371983878
NM_030665.3(RAI1):c.864_872delGCAGCAGCA (p.Gln289_Gln291del) rs371983878
NM_030665.3(RAI1):c.870_872dupGCA (p.Gln291_Ala292insGln) rs371983878
NM_030665.4(RAI1):c.832_849del (p.Gln286_Gln291del)

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