ClinVar Miner

Variants in gene LAMP2 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
364 21 0 10 12 0 0 21

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 8 5
likely benign 8 0 10
benign 5 10 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_002294.3(LAMP2):c.-10C>T rs201209341
NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.3(LAMP2):c.65-13T>A rs727503121
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.1135A>G (p.Ile379Val) rs140936359
NM_013995.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_013995.2(LAMP2):c.461A>G (p.Asn154Ser) rs773525538
NM_013995.2(LAMP2):c.877C>A (p.Arg293=) rs727503118

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