ClinVar Miner

Variants in gene CHD2 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
820 51 0 16 16 0 7 39

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 1 1 0
likely pathogenic 2 0 5 0 0
uncertain significance 1 5 0 15 1
likely benign 1 0 15 0 14
benign 0 0 1 14 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile) rs1359060187
NM_001271.4(CHD2):c.225C>G (p.Ser75=) rs144667627
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.4(CHD2):c.2505+4A>G rs767309501
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3734+7A>G rs565514035
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=) rs565686460
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.4(CHD2):c.4592+18G>A rs116022337
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076
NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu) rs1057522158
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr) rs776393356
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554

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