ClinVar Miner

Variants in gene CIITA 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
503 74 0 6 41 0 1 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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 34 8
likely benign 0 34 0 6
benign 0 8 6 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.1149C>T (p.Ala383=) rs748867171
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1527C>T (p.Gly509=) rs1427227633
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1545C>T (p.Cys515=) rs200146904
NM_000246.3(CIITA):c.1683C>T (p.Asp561=) rs76686583
NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) rs142848848
NM_000246.3(CIITA):c.1791C>G (p.Leu597=) rs201657235
NM_000246.3(CIITA):c.1834A>G (p.Thr612Ala)
NM_000246.3(CIITA):c.1908G>A (p.Thr636=) rs200398959
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.1944A>T (p.Ala648=)
NM_000246.3(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2409G>A (p.Ala803=)
NM_000246.3(CIITA):c.2442C>T (p.His814=) rs746490057
NM_000246.3(CIITA):c.2448C>T (p.Ala816=) rs112250421
NM_000246.3(CIITA):c.2617T>C (p.Leu873=) rs368233530
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2832G>A (p.Ser944=) rs766538754
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.2892G>A (p.Leu964=) rs200599265
NM_000246.3(CIITA):c.2979G>A (p.Ala993=) rs142031278
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3150-6C>T rs192219239
NM_000246.3(CIITA):c.3175G>A (p.Val1059Met) rs200742204
NM_000246.3(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.3(CIITA):c.3357C>T (p.His1119=) rs754706834
NM_000246.3(CIITA):c.366A>T (p.Ile122=)
NM_000246.3(CIITA):c.384C>T (p.Ile128=) rs140106499
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.460G>A (p.Asp154Asn) rs76923280
NM_000246.3(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.3(CIITA):c.772+5G>T rs376221650
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000246.3(CIITA):c.772+9G>A rs750572482
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000246.3(CIITA):c.948G>A (p.Thr316=)
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)
NM_000246.4(CIITA):c.3233+7G>A
NM_000246.4(CIITA):c.436+9del

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