ClinVar Miner

Variants with conflicting interpretations studied for Focal cortical dysplasia type II

Coded as:
Minimum review status of the submission for Focal cortical dysplasia type II: Y axis collection method of the submission for Focal cortical dysplasia type II:
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
3 147 5 35 26 0 3 52

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
Focal cortical dysplasia type II likely pathogenic uncertain significance likely benign benign
pathogenic 3 3 2 0
uncertain significance 0 2 10 8
likely benign 0 14 2 28
benign 0 1 4 1

Condition to condition summary #

Total conditions: 18
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
Tuberous sclerosis 1 0 5 0 25 13 0 2 39
not specified 0 11 0 21 11 0 1 28
not provided 0 7 5 7 10 0 0 19
Hereditary cancer-predisposing syndrome 0 19 0 10 5 0 2 16
Glioblastoma 0 0 0 2 0 0 0 2
Kidney Carcinoma 0 0 0 2 0 0 0 2
Malignant melanoma of skin 0 0 0 2 0 0 0 2
Malignant neoplasm of body of uterus 0 0 0 2 0 0 0 2
Neoplasm of the large intestine 0 0 0 2 0 0 0 2
Papillary renal cell carcinoma, sporadic 0 0 0 2 0 0 0 2
Renal cell carcinoma, papillary, 1 0 0 0 2 0 0 0 2
Tuberous sclerosis 2 0 1 0 0 1 0 1 2
Tuberous sclerosis syndrome 0 190 0 0 2 0 0 2
Uterine cervical neoplasms 0 0 0 2 0 0 0 2
Focal cortical dysplasia of Taylor type 2B 0 0 0 0 1 0 0 1
Focal cortical dysplasia type II 201 0 0 0 1 0 0 1
Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 0 0 0 0 1 0 0 1
Primitive neuroectodermal tumor 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-99C>T rs114755636
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_004958.3(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
NM_004958.3(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894

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