ClinVar Miner

Variants in gene ALDH18A1 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
108 6 0 8 10 0 3 19

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 3 0 0
uncertain significance 3 0 10 2
likely benign 0 10 0 8
benign 0 2 8 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_002860.3(ALDH18A1):c.-29+10G>A rs571140165
NM_002860.3(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566
NM_002860.3(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571
NM_002860.3(ALDH18A1):c.1153-13A>G rs370680325
NM_002860.3(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455
NM_002860.3(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956
NM_002860.3(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404
NM_002860.3(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342
NM_002860.3(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780
NM_002860.3(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934
NM_002860.3(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297
NM_002860.3(ALDH18A1):c.2110+13A>G rs375782465
NM_002860.3(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426
NM_002860.3(ALDH18A1):c.2207-3C>T rs149309642
NM_002860.3(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582
NM_002860.3(ALDH18A1):c.383G>A (p.Arg128His) rs768323248
NM_002860.3(ALDH18A1):c.492C>T (p.Ala164=) rs150472102
NM_002860.3(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002860.3(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272

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