ClinVar Miner

Variants with conflicting interpretations studied for Multiple Epiphyseal Dysplasia, Dominant

Coded as:
Minimum review status of the submission for Multiple Epiphyseal Dysplasia, Dominant: Y axis collection method of the submission for Multiple Epiphyseal Dysplasia, Dominant:
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
64 117 1 66 8 2 0 75

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
Multiple Epiphyseal Dysplasia, Dominant pathogenic uncertain significance likely benign benign risk factor
pathogenic 1 0 0 0 0
uncertain significance 0 0 5 0 0
likely benign 0 3 0 66 2

Condition to condition summary #

Total conditions: 9
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 27 0 66 5 0 0 71
not provided 0 12 0 6 3 0 0 9
Cranioectodermal dysplasia 0 2 0 1 0 0 0 1
Intervertebral disc disease, susceptibility to 0 0 0 0 0 1 0 1
Multiple epiphyseal dysplasia 1 0 0 0 1 0 0 0 1
Multiple epiphyseal dysplasia 5 0 0 1 0 0 0 0 1
Osteoarthritis of distal interphalangeal joint 0 0 0 0 0 1 0 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 34 0 1 0 0 0 1
Short Rib Polydactyly Syndrome 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_000095.2(COMP):c.*1G>C rs77185131
NM_000095.2(COMP):c.1156A>G (p.Asn386Asp) rs61739916
NM_000095.2(COMP):c.1755G>A (p.Thr585=) rs34467947
NM_000095.2(COMP):c.218-14C>T rs150008764
NM_000095.2(COMP):c.2267A>G (p.Gln756Arg) rs61752496
NM_000095.2(COMP):c.511G>A (p.Ala171Thr) rs115338183
NM_001006657.1(WDR35):c.53A>G (p.Gln18Arg) rs1060742
NM_001851.4(COL9A1):c.1066-3T>C rs16868869
NM_001851.4(COL9A1):c.1071T>C (p.Arg357=) rs607156
NM_001851.4(COL9A1):c.1197+11T>C rs73745357
NM_001851.4(COL9A1):c.1230+12T>C rs6935778
NM_001851.4(COL9A1):c.1288-4T>A rs142431834
NM_001851.4(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.4(COL9A1):c.1504-14T>A rs537940
NM_001851.4(COL9A1):c.1569T>A (p.Gly523=) rs150970524
NM_001851.4(COL9A1):c.1656T>C (p.Pro552=) rs80251646
NM_001851.4(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.4(COL9A1):c.2271G>A (p.Pro757=) rs2072650
NM_001851.4(COL9A1):c.2299A>G (p.Met767Val) rs6910140
NM_001851.4(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578
NM_001851.4(COL9A1):c.344C>T (p.Thr115Met) rs200018557
NM_001851.4(COL9A1):c.876+13C>T rs117215769
NM_001851.4(COL9A1):c.89-12T>C rs12210123
NM_001851.4(COL9A1):c.904G>A (p.Gly302Ser) rs151129325
NM_001852.3(COL9A2):c.-43G>A rs373454857
NM_001852.3(COL9A2):c.1003C>G (p.Leu335Val) rs2228567
NM_001852.3(COL9A2):c.1041C>T (p.Gly347=) rs138882727
NM_001852.3(COL9A2):c.1053+7C>T rs79627294
NM_001852.3(COL9A2):c.1062G>A (p.Pro354=) rs6676013
NM_001852.3(COL9A2):c.1161+10T>A rs117563156
NM_001852.3(COL9A2):c.1188G>A (p.Val396=) rs201054854
NM_001852.3(COL9A2):c.1288-12C>T rs77695700
NM_001852.3(COL9A2):c.1368+12G>A rs112370406
NM_001852.3(COL9A2):c.1599G>T (p.Leu533=) rs142974512
NM_001852.3(COL9A2):c.1741G>A (p.Val581Ile) rs3737821
NM_001852.3(COL9A2):c.1824A>G (p.Glu608=) rs138949427
NM_001852.3(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001852.3(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987
NM_001852.3(COL9A2):c.2001C>T (p.Ala667=) rs2229826
NM_001852.3(COL9A2):c.364-8C>T rs11207843
NM_001852.3(COL9A2):c.544A>G (p.Met182Val) rs113549021
NM_001852.3(COL9A2):c.737C>T (p.Thr246Met) rs2228565
NM_001852.3(COL9A2):c.738+10T>C rs56326652
NM_001852.3(COL9A2):c.955-4C>G rs118135975
NM_001852.3(COL9A2):c.976C>T (p.Gln326Ter) rs12077871
NM_001853.3(COL9A3):c.*9G>A rs116108376
NM_001853.3(COL9A3):c.102_110delCGGCCCCCC (p.Pro39_Gly41del) rs544133282
NM_001853.3(COL9A3):c.1896C>T (p.Asp632=) rs74830351
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761
NM_001853.4(COL9A3):c.1327A>G (p.Ile443Val) rs79269394
NM_001853.4(COL9A3):c.1402-9C>T rs57754593
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
NM_001853.4(COL9A3):c.1476C>T (p.Pro492=) rs76559905
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984
NM_001853.4(COL9A3):c.520-6C>T rs45476191
NM_001853.4(COL9A3):c.546C>T (p.Pro182=) rs150148851
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.887C>T (p.Pro296Leu) rs45628843
NM_001853.4(COL9A3):c.901-9T>C rs74506912
NM_001853.4(COL9A3):c.909G>A (p.Pro303=) rs2249903
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078
NM_002381.4(MATN3):c.1169-10G>A rs149849256
NM_002381.4(MATN3):c.1406-4C>T rs35973216
NM_002381.4(MATN3):c.187T>G (p.Ser63Ala) rs3816644
NM_002381.4(MATN3):c.209G>A (p.Arg70His) rs104893640
NM_002381.4(MATN3):c.62T>G (p.Leu21Arg) rs573907581
NM_002381.4(MATN3):c.754G>A (p.Glu252Lys) rs52826764
NM_002381.4(MATN3):c.908C>T (p.Thr303Met) rs77245812
NM_002381.4(MATN3):c.909G>A (p.Thr303=) rs28452699

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