ClinVar Miner

Variants with conflicting interpretations studied for Intellectual disability, autosomal dominant 5

Coded as:
Minimum review status of the submission for Intellectual disability, autosomal dominant 5: Collection method of the submission for Intellectual disability, autosomal dominant 5:
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
1147 53 0 12 18 0 10 37

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
Intellectual disability, autosomal dominant 5 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 4 0 0
likely pathogenic 9 0 9 0 0
uncertain significance 4 9 0 9 9
likely benign 0 0 9 0 3
benign 0 0 9 3 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
Intellectual disability, autosomal dominant 5 1147 53 0 12 18 0 10 37

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=) rs765193793 0.00002
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) rs764952741 0.00001
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser) rs1561789701
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) rs1200128322
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu) rs875989808
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser) rs1761351808
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.