ClinVar Miner

Variants with conflicting interpretations studied for Majeed syndrome

Coded as:
Minimum review status of the submission for Majeed syndrome: Collection method of the submission for Majeed syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
648 67 0 16 24 0 0 35

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.

All conditions
Majeed syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 24 5
likely benign 0 0 24 0 14
benign 0 0 5 14 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Majeed syndrome 648 67 0 16 24 0 0 35

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494

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