ClinVar Miner

Variants in gene MED12 with conflicting interpretations

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 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
288 37 2 26 20 2 4 47

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 association other
pathogenic 2 0 2 0 1 0 0
likely pathogenic 0 0 2 0 0 0 0
uncertain significance 2 2 0 15 11 0 0
likely benign 0 0 15 0 26 0 0
benign 1 0 11 26 0 0 0
association 0 0 0 0 0 0 2
other 0 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_005120.2(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.2(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.2(MED12):c.1248+15T>C rs187377817
NM_005120.2(MED12):c.130G>A (p.Gly44Ser) rs199469669
NM_005120.2(MED12):c.131G>A (p.Gly44Asp) rs199469672
NM_005120.2(MED12):c.1332C>T (p.Cys444=) rs746205041
NM_005120.2(MED12):c.1485+6C>T rs565198403
NM_005120.2(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.2(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.2(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.2(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.2(MED12):c.3691+4C>T rs373381746
NM_005120.2(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.2(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.2(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.2(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.2(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.2(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.2(MED12):c.4115A>G (p.Asn1372Ser) rs202009066
NM_005120.2(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.2(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.2(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.2(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.2(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.2(MED12):c.5400+6C>T rs192656109
NM_005120.2(MED12):c.5490A>C (p.Thr1830=) rs762466624
NM_005120.2(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.2(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.2(MED12):c.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.2(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.2(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.2(MED12):c.6223_6228dupCAGCAG (p.Gln2076_Tyr2077insGlnGln) rs757160341
NM_005120.2(MED12):c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) rs757160341
NM_005120.2(MED12):c.6256_6258delCAG (p.Gln2086del) rs786200971
NM_005120.2(MED12):c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) rs786200971
NM_005120.2(MED12):c.6285A>G (p.Gln2095=) rs794727673
NM_005120.2(MED12):c.6308_6309insGCA (p.Gln2115_His2116insGln) rs766775649
NM_005120.2(MED12):c.6308_6309insGCAGCA (p.Gln2115_His2116insGlnGln) rs766775649
NM_005120.2(MED12):c.6315_6320delACAGCA (p.Gln2114_Gln2115del) rs764789036
NM_005120.2(MED12):c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) rs727503869
NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln) rs398124200
NM_005120.2(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.2(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005120.2(MED12):c.736-8A>C rs62609586
NM_005120.2(MED12):c.934G>C (p.Val312Leu) rs377403264

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