ClinVar Miner

Variants with conflicting interpretations studied for Lissencephaly, Recessive

Coded as:
Minimum review status of the submission for Lissencephaly, Recessive: Y axis collection method of the submission for Lissencephaly, Recessive:
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
89 56 0 55 51 0 3 107

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, Recessive pathogenic uncertain significance likely benign benign
uncertain significance 1 0 42 24
likely benign 2 0 0 36
benign 0 1 19 0

Condition to condition summary #

Total conditions: 10
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 14 0 40 35 0 0 75
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 7 0 19 20 0 0 39
Thoracic aortic aneurysm and aortic dissection 0 47 0 20 12 0 0 32
Aortic aneurysm, familial thoracic 4 0 12 0 5 14 0 0 19
not provided 0 29 0 7 9 0 0 16
Cardiovascular phenotype 0 10 0 5 6 0 0 11
Lissencephaly 2 0 5 0 3 3 0 0 6
Connective tissue disorder 0 0 0 0 3 0 0 3
Rolandic epilepsy 0 0 0 0 0 0 3 3
Familial aortopathy 0 0 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 107
Download table as spreadsheet
HGVS dbSNP
NM_001040113.1(MYH11):c.3721G>A (p.Ala1241Thr) rs16967494
NM_001040113.1(MYH11):c.3988C>T (p.Leu1330=) rs12907
NM_001040113.1(MYH11):c.4422C>T (p.Tyr1474=) rs8046180
NM_001040113.1(MYH11):c.5317-4C>T rs183176702
NM_001040113.1(MYH11):c.5807+11C>T rs374454501
NM_001143979.1(NDE1):c.*1220G>A rs74009414
NM_001143979.1(NDE1):c.*1299A>G rs16967500
NM_001143979.1(NDE1):c.*1389G>A rs11557090
NM_001143979.1(NDE1):c.*1723C>T rs73519694
NM_001143979.1(NDE1):c.*202G>A rs11130
NM_001143979.1(NDE1):c.*913A>C rs760024
NM_001143979.1(NDE1):c.*947G>A rs760023
NM_001143979.1(NDE1):c.-164C>T rs114855401
NM_001143979.1(NDE1):c.-165-12_-165-9delCTGT rs757466932
NM_001143979.1(NDE1):c.386+9G>A rs147174812
NM_001143979.1(NDE1):c.700C>T (p.Arg234Cys) rs201783071
NM_001143979.1(NDE1):c.837C>T (p.Tyr279=) rs17283846
NM_001143979.1(NDE1):c.948-3986G>A rs760584464
NM_001143979.1(NDE1):c.948-4894G>A rs771742318
NM_001143979.1(NDE1):c.948-5807C>G rs144421849
NM_001143979.1(NDE1):c.948-5828C>T rs757501817
NM_001143979.1(NDE1):c.948-5858G>A rs112564682
NM_001143979.1(NDE1):c.948-6833A>G rs111858392
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001143979.1(NDE1):c.948-9103C>T rs202120792
NM_002474.2(MYH11):c.*5C>G rs1875184
NM_002474.2(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.2(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.2(MYH11):c.4116+12G>A rs193005461
NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.2(MYH11):c.4579-13G>A rs181115969
NM_002474.2(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.2(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.2(MYH11):c.5172-13G>A rs373378619
NM_002474.2(MYH11):c.5172-14C>T rs34839877
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.2(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.2(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_005045.3(RELN):c.-12_-1dupGGCGGCGGCGGC rs55656324
NM_005045.3(RELN):c.-18_-1dup rs55656324
NM_005045.3(RELN):c.-3_-1dupGGC rs55656324
NM_005045.3(RELN):c.-6_-1dupGGCGGC rs55656324
NM_005045.3(RELN):c.10026G>A (p.Thr3342=) rs542352292
NM_005045.3(RELN):c.10074A>G (p.Ala3358=) rs1062831
NM_005045.3(RELN):c.10182-11G>A rs57844600
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.3(RELN):c.139G>A (p.Glu47Lys) rs139648092
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.1888A>C (p.Ser630Arg) rs115734214
NM_005045.3(RELN):c.26A>C (p.Gln9Pro) rs115165703
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.2989C>G (p.Leu997Val) rs362691
NM_005045.3(RELN):c.3009-10G>A rs140358876
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.3411C>T (p.Gly1137=) rs137974322
NM_005045.3(RELN):c.3424T>A (p.Ser1142Thr) rs145484343
NM_005045.3(RELN):c.3642C>T (p.Val1214=) rs151252449
NM_005045.3(RELN):c.3712A>C (p.Asn1238His) rs114003896
NM_005045.3(RELN):c.3913-9T>C rs372473867
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.4588+14T>C rs362810
NM_005045.3(RELN):c.4589-8T>G rs362801
NM_005045.3(RELN):c.474-7T>C rs55693709
NM_005045.3(RELN):c.5136G>A (p.Thr1712=) rs147933593
NM_005045.3(RELN):c.5211-7dupT rs34125550
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.5775A>G (p.Arg1925=) rs2711866
NM_005045.3(RELN):c.578-3T>C rs607755
NM_005045.3(RELN):c.5831T>G (p.Phe1944Cys) rs77664442
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.6147G>A (p.Ala2049=) rs116750302
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.6702T>C (p.Cys2234=) rs2075043
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.7111G>A (p.Ala2371Thr) rs79377093
NM_005045.3(RELN):c.7530C>T (p.Pro2510=) rs2075038
NM_005045.3(RELN):c.7538C>G (p.Ser2513Cys) rs114647348
NM_005045.3(RELN):c.7887T>C (p.Pro2629=) rs56345626
NM_005045.3(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.3(RELN):c.8086G>A (p.Ala2696Thr) rs115640958
NM_005045.3(RELN):c.8136A>G (p.Leu2712=) rs3808039
NM_005045.3(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.3(RELN):c.8811G>A (p.Ala2937=) rs144728023
NM_005045.3(RELN):c.8843+7G>C rs2711885
NM_005045.3(RELN):c.9172T>C (p.Leu3058=) rs2286261
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.9903C>T (p.Tyr3301=) rs73714404

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