ClinVar Miner

Variants in gene SYNGAP1 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
585 25 0 13 6 0 4 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 0
likely pathogenic 2 0 3 0 0
uncertain significance 2 3 0 4 2
likely benign 0 0 4 0 11
benign 0 0 2 11 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891

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