ClinVar Miner

Variants with conflicting interpretations studied for Lissencephaly 2; Epilepsy, familial temporal lobe, 7

Coded as:
Minimum review status of the submission for Lissencephaly 2; Epilepsy, familial temporal lobe, 7: Y axis collection method of the submission for Lissencephaly 2; Epilepsy, familial temporal lobe, 7:
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 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
131 51 0 46 49 0 6 82

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
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 pathogenic uncertain significance likely benign benign
uncertain significance 2 0 1 1
likely benign 1 29 0 2
benign 3 18 44 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition 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
not specified 0 23 0 41 17 0 0 56
Lissencephaly, Recessive 0 7 0 19 20 0 0 39
not provided 0 44 0 10 22 0 0 31
Rolandic epilepsy 0 0 0 0 0 0 5 5
Lissencephaly 2 0 2 0 3 2 0 0 4
Epilepsy, familial temporal lobe, 7 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_005045.3(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.3(RELN):c.1377G>A (p.Arg459=) rs73712207
NM_005045.3(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.3(RELN):c.1442-8T>C rs181761096
NM_005045.3(RELN):c.1555G>T (p.Val519Phe) rs560704715
NM_005045.3(RELN):c.1596G>A (p.Gln532=) rs41276154
NM_005045.3(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.3(RELN):c.1824C>T (p.Cys608=) rs79620906
NM_005045.3(RELN):c.1888A>C (p.Ser630Arg) rs115734214
NM_005045.3(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.3(RELN):c.2016G>A (p.Pro672=) rs146749232
NM_005045.3(RELN):c.2376T>C (p.Gly792=) rs398124191
NM_005045.3(RELN):c.246C>G (p.Thr82=) rs113242008
NM_005045.3(RELN):c.26A>C (p.Gln9Pro) rs115165703
NM_005045.3(RELN):c.2754A>G (p.Gln918=) rs114620008
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.3060C>T (p.Asp1020=) rs115886170
NM_005045.3(RELN):c.3123C>T (p.Gly1041=) rs41276148
NM_005045.3(RELN):c.3424T>A (p.Ser1142Thr) rs145484343
NM_005045.3(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.3(RELN):c.3642C>T (p.Val1214=) rs151252449
NM_005045.3(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.3(RELN):c.3839G>A (p.Gly1280Glu) rs55689103
NM_005045.3(RELN):c.3913-9T>C rs372473867
NM_005045.3(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.3(RELN):c.416C>G (p.Thr139Ser) rs79471015
NM_005045.3(RELN):c.4182A>G (p.Ser1394=) rs147496823
NM_005045.3(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.3(RELN):c.4408G>A (p.Val1470Ile) rs143213152
NM_005045.3(RELN):c.4589-8T>G rs362801
NM_005045.3(RELN):c.4720G>A (p.Ala1574Thr) rs78480723
NM_005045.3(RELN):c.474-7T>C rs55693709
NM_005045.3(RELN):c.4986C>G (p.Thr1662=) rs78221963
NM_005045.3(RELN):c.5088T>C (p.Leu1696=) rs114551393
NM_005045.3(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.3(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.3(RELN):c.5200C>G (p.Leu1734Val) rs362800
NM_005045.3(RELN):c.5274G>T (p.Ala1758=) rs139102992
NM_005045.3(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005045.3(RELN):c.5351+3A>G rs6967725
NM_005045.3(RELN):c.5599A>C (p.Arg1867=) rs753376558
NM_005045.3(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.3(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.3(RELN):c.565C>T (p.His189Tyr) rs115806540
NM_005045.3(RELN):c.5775A>G (p.Arg1925=) rs2711866
NM_005045.3(RELN):c.5796C>T (p.Asn1932=) rs200299096
NM_005045.3(RELN):c.5831T>G (p.Phe1944Cys) rs77664442
NM_005045.3(RELN):c.5880A>G (p.Thr1960=) rs362793
NM_005045.3(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.3(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.3(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.3(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.3(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.3(RELN):c.6213C>T (p.Thr2071=) rs554215103
NM_005045.3(RELN):c.621C>T (p.Asp207=) rs114627891
NM_005045.3(RELN):c.6228C>T (p.Ser2076=) rs115379833
NM_005045.3(RELN):c.6343G>A (p.Gly2115Ser) rs116716038
NM_005045.3(RELN):c.6671+8T>C rs362758
NM_005045.3(RELN):c.6939T>C (p.Ile2313=) rs113498433
NM_005045.3(RELN):c.7086C>T (p.Thr2362=) rs362747
NM_005045.3(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.3(RELN):c.7114G>A (p.Val2372Met) rs114344654
NM_005045.3(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005045.3(RELN):c.7538C>G (p.Ser2513Cys) rs114647348
NM_005045.3(RELN):c.7644G>A (p.Ser2548=) rs150743664
NM_005045.3(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005045.3(RELN):c.8086G>A (p.Ala2696Thr) rs115640958
NM_005045.3(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.3(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.3(RELN):c.877G>A (p.Asp293Asn) rs200289289
NM_005045.3(RELN):c.8811G>A (p.Ala2937=) rs144728023
NM_005045.3(RELN):c.8863C>T (p.Arg2955Cys) rs114501042
NM_005045.3(RELN):c.906C>T (p.Ala302=) rs114494558
NM_005045.3(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.3(RELN):c.9340A>G (p.Ile3114Val) rs149613347
NM_005045.3(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.3(RELN):c.9524A>C (p.His3175Pro) rs74513461
NM_005045.3(RELN):c.9714C>T (p.His3238=) rs78218774
NM_005045.3(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.3(RELN):c.9825C>T (p.Ser3275=) rs149713137
NM_005045.3(RELN):c.9903C>T (p.Tyr3301=) rs73714404

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.