ClinVar Miner

Variants in gene PDGFRA 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
591 95 7 15 13 0 0 31

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
pathogenic 0 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 5 13 2
likely benign 0 0 13 0 13
benign 0 0 2 13 2

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_006206.5(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207
NM_006206.5(PDGFRA):c.1099G>A (p.Val367Met) rs147982027
NM_006206.5(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622
NM_006206.5(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643
NM_006206.5(PDGFRA):c.1202C>A (p.Ala401Asp) rs397514549
NM_006206.5(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828
NM_006206.5(PDGFRA):c.1320G>A (p.Thr440=) rs56026726
NM_006206.5(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922
NM_006206.5(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368
NM_006206.5(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888
NM_006206.5(PDGFRA):c.1631T>C (p.Val544Ala) rs181854060
NM_006206.5(PDGFRA):c.1731G>A (p.Pro577=) rs55830582
NM_006206.5(PDGFRA):c.201C>T (p.Ser67=) rs35805947
NM_006206.5(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387
NM_006206.5(PDGFRA):c.2291G>A (p.Arg764His) rs141047712
NM_006206.5(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373
NM_006206.5(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.5(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006206.5(PDGFRA):c.2742G>C (p.Arg914=) rs56384252
NM_006206.5(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829
NM_006206.5(PDGFRA):c.2897A>G (p.His966Arg) rs200042995
NM_006206.5(PDGFRA):c.3004G>T (p.Asp1002Tyr) rs200676118
NM_006206.5(PDGFRA):c.3156G>A (p.Thr1052=) rs55996208
NM_006206.5(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782
NM_006206.5(PDGFRA):c.368-3C>T rs55947416
NM_006206.5(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350
NM_006206.5(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632
NM_006206.5(PDGFRA):c.672G>A (p.Val224=) rs151259376
NM_006206.5(PDGFRA):c.801A>G (p.Pro267=) rs55966236
NM_006206.5(PDGFRA):c.896T>C (p.Val299Ala) rs200033396
NM_006206.5(PDGFRA):c.996C>T (p.Val332=) rs142498442

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