ClinVar Miner

Variants in gene ACADS 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
95 8 0 17 4 0 18 36

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 14 8 1 2
likely pathogenic 14 0 9 1 2
uncertain significance 8 9 0 4 0
likely benign 1 1 4 0 4
benign 2 2 0 4 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000017.2(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.2(ACADS):c.1112G>T (p.Gly371Val) rs796051905
NM_000017.2(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.2(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.2(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.2(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.2(ACADS):c.815G>A (p.Arg272His) rs374726386
NM_000017.2(ACADS):c.910dupC (p.Leu304Profs) rs1057516606
NM_000017.2(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.2(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.3(ACADS):c.*4C>T rs774815274
NM_000017.3(ACADS):c.*5G>A rs2229533
NM_000017.3(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.3(ACADS):c.1130C>T (p.Pro377Leu) rs183161718
NM_000017.3(ACADS):c.1138C>T (p.Arg380Trp) rs28940875
NM_000017.3(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000017.3(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.3(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.3(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000017.3(ACADS):c.268G>A (p.Gly90Ser) rs121908005
NM_000017.3(ACADS):c.310_312delGAG (p.Glu104del) rs387906308
NM_000017.3(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.3(ACADS):c.360C>T (p.Asn120=) rs76543640
NM_000017.3(ACADS):c.423G>A (p.Thr141=) rs2239686
NM_000017.3(ACADS):c.465C>T (p.Ser155=) rs141492002
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.3(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.3(ACADS):c.575C>T (p.Ala192Val) rs28940874
NM_000017.3(ACADS):c.624+8C>T rs371550264
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000017.3(ACADS):c.682_683delGA (p.Glu228Argfs) rs786204691
NM_000017.3(ACADS):c.796-14G>C rs201420791
NM_000017.3(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000017.3(ACADS):c.820G>A (p.Gly274Ser) rs746368198
NM_000017.3(ACADS):c.973C>T (p.Arg325Trp) rs121908006

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