ClinVar Miner

Variants in gene ALG13 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
347 22 0 8 9 0 0 17

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.

uncertain significance likely benign benign
uncertain significance 0 7 2
likely benign 7 0 8
benign 2 8 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936

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