ClinVar Miner

Variants with conflicting interpretations studied for Familial Atypical Mycobacteriosis, Autosomal Recessive

Coded as:
Minimum review status of the submission for Familial Atypical Mycobacteriosis, Autosomal Recessive: Y axis collection method of the submission for Familial Atypical Mycobacteriosis, Autosomal 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
83 19 0 21 11 0 0 32

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
Familial Atypical Mycobacteriosis, Autosomal Recessive likely benign benign
uncertain significance 6 8
likely benign 0 20
benign 1 0

Condition to condition summary #

Total conditions: 7
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 12 0 13 2 0 0 15
Tyrosine kinase 2 deficiency 0 5 0 8 2 0 0 10
Immunodeficiency 30 0 1 0 3 6 0 0 9
Disseminated atypical mycobacterial infection 0 0 0 2 3 0 0 5
Immunodeficiency 29 0 0 0 2 0 0 0 2
Interferon gamma receptor deficiency 0 0 0 0 1 0 0 1
not provided 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000416.2(IFNGR1):c.1050T>G (p.Ser350=) rs11914
NM_000416.2(IFNGR1):c.42G>A (p.Val14=) rs17181471
NM_000416.2(IFNGR1):c.48G>A (p.Arg16=) rs11575931
NM_002187.2(IL12B):c.483-8G>C rs3213099
NM_002187.2(IL12B):c.892G>T (p.Val298Phe) rs3213119
NM_003331.4(TYK2):c.1087G>A (p.Gly363Ser) rs2304255
NM_003331.4(TYK2):c.114C>A (p.Gly38=) rs56295652
NM_003331.4(TYK2):c.1774-4G>C rs280518
NM_003331.4(TYK2):c.1848T>G (p.Pro616=) rs12720276
NM_003331.4(TYK2):c.193+14G>A rs199931972
NM_003331.4(TYK2):c.2051T>G (p.Ile684Ser) rs12720356
NM_003331.4(TYK2):c.2107C>T (p.Arg703Trp) rs55882956
NM_003331.4(TYK2):c.2311+11G>C rs12720299
NM_003331.4(TYK2):c.2716-10T>G rs12720319
NM_003331.4(TYK2):c.3201-8C>T rs2304252
NM_003331.4(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443
NM_003331.4(TYK2):c.44T>C (p.Val15Ala) rs144960992
NM_003331.4(TYK2):c.513G>A (p.Ser171=) rs55988893
NM_003331.4(TYK2):c.516C>T (p.Thr172=) rs280523
NM_003331.4(TYK2):c.590G>A (p.Arg197His) rs12720263
NM_003331.4(TYK2):c.942C>T (p.His314=) rs12720266
NM_005535.2(IL12RB1):c.1149C>T (p.Cys383=) rs17882216
NM_005535.2(IL12RB1):c.139C>T (p.Pro47Ser) rs17887176
NM_005535.2(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935
NM_005535.2(IL12RB1):c.1584G>A (p.Arg528=) rs141968777
NM_005535.2(IL12RB1):c.1879G>A (p.Glu627Lys) rs143367415
NM_005535.2(IL12RB1):c.1914T>C (p.Pro638=) rs199686420
NM_005535.2(IL12RB1):c.1960G>A (p.Asp654Asn) rs202106699
NM_005535.2(IL12RB1):c.271G>A (p.Ala91Thr) rs147215816
NM_005535.2(IL12RB1):c.467G>A (p.Arg156His) rs11575926
NM_005535.2(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934
NM_005535.2(IL12RB1):c.783+10C>T rs79972275

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