ClinVar Miner

Variants in gene ALDH4A1 with conflicting interpretations

See also:
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
127 3 0 9 13 0 2 23

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 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 1 2 0 4 9
likely benign 0 0 4 0 7
benign 0 0 9 7 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.