ClinVar Miner

Variants in gene LIPA with conflicting interpretations

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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
546 46 0 15 30 0 6 49

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 10 0 0 0
likely pathogenic 10 0 6 0 0
uncertain significance 0 6 0 29 2
likely benign 0 0 29 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) rs147426329 0.00061
NM_000235.4(LIPA):c.112-9T>C rs200186130 0.00046
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106 0.00022
NM_000235.4(LIPA):c.483T>C (p.Asn161=) rs369755163 0.00008
NM_000235.4(LIPA):c.618C>A (p.Val206=) rs763651849 0.00006
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526 0.00004
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 0.00004
NM_000235.4(LIPA):c.967-13C>A rs762226885 0.00004
NM_000235.4(LIPA):c.111+13A>G rs375237841 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000235.4(LIPA):c.1077G>A (p.Gln359=) rs538507117 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126 0.00001
NM_000235.4(LIPA):c.1056C>T (p.Asp352=) rs1564748504 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=) rs756950169 0.00001
NM_000235.4(LIPA):c.1032C>G (p.His344Gln) rs779601441
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000235.4(LIPA):c.230-15A>G rs199978109
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.429-10T>G rs1554865817
NM_000235.4(LIPA):c.45G>A (p.Trp15Ter) rs2133468001
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.618C>T (p.Val206=) rs763651849
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197

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