ClinVar Miner

Variants in gene LIPA 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
178 55 0 14 19 0 4 36

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 7 0 0 0
likely pathogenic 7 0 4 0 0
uncertain significance 0 4 0 18 2
likely benign 0 0 18 0 7
benign 0 0 2 7 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000235.4(LIPA):c.*1093C>T rs13500
NM_000235.4(LIPA):c.*1187C>A rs78931290
NM_000235.4(LIPA):c.*841C>G rs116074523
NM_000235.4(LIPA):c.*876C>G rs141445686
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) rs1446626293
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.112-9T>C rs200186130
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878
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.318C>T (p.Phe106=) rs1438679981
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.539-6T>C rs201898154
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086
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.662A>G (p.Asp221Gly) rs145163592
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232

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