ClinVar Miner

Variants with conflicting interpretations studied for Microcephalic Osteodysplastic Primordial Dwarfism

Coded as:
Minimum review status of the submission for Microcephalic Osteodysplastic Primordial Dwarfism: Y axis collection method of the submission for Microcephalic Osteodysplastic Primordial Dwarfism:
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
79 47 0 41 32 0 0 73

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
Microcephalic Osteodysplastic Primordial Dwarfism likely benign benign
uncertain significance 29 11
likely benign 0 40
benign 1 0

Condition to condition summary #

Total conditions: 3
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 39 0 40 32 0 0 72
Microcephalic osteodysplastic primordial dwarfism type 2 0 15 0 2 1 0 0 3
not provided 0 10 0 0 3 0 0 3

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_006031.5(PCNT):c.-16G>T rs138595914
NM_006031.5(PCNT):c.1107T>C (p.His369=) rs113731555
NM_006031.5(PCNT):c.1185T>C (p.Phe395=) rs764314231
NM_006031.5(PCNT):c.1616C>T (p.Thr539Ile) rs2249060
NM_006031.5(PCNT):c.1784C>T (p.Ala595Val) rs143028464
NM_006031.5(PCNT):c.2033A>G (p.Lys678Arg) rs149623054
NM_006031.5(PCNT):c.2575G>A (p.Asp859Asn) rs115369710
NM_006031.5(PCNT):c.2865C>T (p.Ala955=) rs540548340
NM_006031.5(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.5(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204
NM_006031.5(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802
NM_006031.5(PCNT):c.3615G>A (p.Ala1205=) rs61735806
NM_006031.5(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006
NM_006031.5(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.5(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.5(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569
NM_006031.5(PCNT):c.4572G>A (p.Pro1524=) rs116431741
NM_006031.5(PCNT):c.467A>G (p.His156Arg) rs61735825
NM_006031.5(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154
NM_006031.5(PCNT):c.4962+10G>A rs114474454
NM_006031.5(PCNT):c.498A>G (p.Pro166=) rs61735824
NM_006031.5(PCNT):c.5199G>A (p.Lys1733=) rs61735808
NM_006031.5(PCNT):c.520A>G (p.Ile174Val) rs61735822
NM_006031.5(PCNT):c.54+6C>T rs80017051
NM_006031.5(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432
NM_006031.5(PCNT):c.5535G>A (p.Arg1845=) rs61735543
NM_006031.5(PCNT):c.5634C>T (p.Asp1878=) rs61735811
NM_006031.5(PCNT):c.5742G>A (p.Ala1914=) rs61735810
NM_006031.5(PCNT):c.5826G>A (p.Arg1942=) rs536281306
NM_006031.5(PCNT):c.5858G>A (p.Arg1953His) rs34268261
NM_006031.5(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667
NM_006031.5(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533
NM_006031.5(PCNT):c.6032C>T (p.Ala2011Val) rs145119952
NM_006031.5(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.5(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633
NM_006031.5(PCNT):c.6579G>A (p.Pro2193=) rs150756913
NM_006031.5(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448
NM_006031.5(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.5(PCNT):c.6739C>T (p.His2247Tyr) rs61735812
NM_006031.5(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334
NM_006031.5(PCNT):c.6822G>A (p.Pro2274=) rs375741970
NM_006031.5(PCNT):c.6918T>C (p.Ala2306=) rs61738290
NM_006031.5(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602
NM_006031.5(PCNT):c.7074T>C (p.Pro2358=) rs61735815
NM_006031.5(PCNT):c.711T>G (p.His237Gln) rs34500739
NM_006031.5(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814
NM_006031.5(PCNT):c.7180-8C>T rs143511166
NM_006031.5(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.5(PCNT):c.7404G>C (p.Gln2468His) rs77075366
NM_006031.5(PCNT):c.7485C>T (p.Ile2495=) rs61735817
NM_006031.5(PCNT):c.7536G>A (p.Pro2512=) rs61735818
NM_006031.5(PCNT):c.7652C>T (p.Ala2551Val) rs12481791
NM_006031.5(PCNT):c.7656C>T (p.Arg2552=) rs61735819
NM_006031.5(PCNT):c.7800G>A (p.Ala2600=) rs61735820
NM_006031.5(PCNT):c.7836C>T (p.Asp2612=) rs757858684
NM_006031.5(PCNT):c.7867C>T (p.Leu2623=) rs61735821
NM_006031.5(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693
NM_006031.5(PCNT):c.7914-4G>A rs76287849
NM_006031.5(PCNT):c.8172C>T (p.Ile2724=) rs146717642
NM_006031.5(PCNT):c.8258G>A (p.Arg2753His) rs743346
NM_006031.5(PCNT):c.8418G>A (p.Ala2806=) rs9983522
NM_006031.5(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795
NM_006031.5(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.5(PCNT):c.8811A>G (p.Thr2937=) rs17371795
NM_006031.5(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595
NM_006031.5(PCNT):c.8988C>T (p.Ala2996=) rs61735826
NM_006031.5(PCNT):c.9015G>A (p.Thr3005=) rs79359463
NM_006031.5(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842
NM_006031.5(PCNT):c.9274-3C>T rs200348425
NM_006031.5(PCNT):c.9291T>C (p.Ala3097=) rs150554265
NM_006031.5(PCNT):c.9394-4T>C rs2839260
NM_006031.5(PCNT):c.9720G>A (p.Pro3240=) rs141991283
NM_006031.5(PCNT):c.9949T>C (p.Leu3317=) rs111389121

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