ClinVar Miner

Variants in gene combination CDKL5, RS1 with conflicting interpretations

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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
510 77 0 28 13 0 9 45

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 18 5 1 0
likely pathogenic 18 0 4 0 0
uncertain significance 5 4 0 12 5
likely benign 1 0 12 0 10
benign 0 0 5 10 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_000330.4(RS1):c.576C>T (p.Pro192=) rs186334493 0.00035
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00022
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00008
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00006
NM_000330.4(RS1):c.597C>A (p.Ile199=) rs200052722 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_003159.3(CDKL5):c.3008T>C (p.Met1003Thr) rs587783162 0.00003
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928
NM_000330.4(RS1):c.251C>G (p.Ser84Cys) rs1338396929
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.404G>C (p.Gly135Ala) rs61752152
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser) rs1131691380
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) rs1057516744
NM_000330.4(RS1):c.527T>C (p.Phe176Ser) rs2518916750
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr) rs2147188856
NM_000330.4(RS1):c.673T>C (p.Ter225Arg) rs1057517433
NM_003159.3(CDKL5):c.2980+21G>C rs148531754

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