ClinVar Miner

Variants in gene MCOLN1 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
231 25 0 19 23 0 0 40

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 13 0 0 0
likely pathogenic 13 0 0 0 0
uncertain significance 0 0 0 20 6
likely benign 0 0 20 0 6
benign 0 0 6 6 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val) rs141240937
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=) rs535003448
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=) rs201232288
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser) rs797044818
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595
NM_020533.3(MCOLN1):c.1707-7C>T
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=) rs146187044
NM_020533.3(MCOLN1):c.213C>T (p.Val71=)
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=) rs567995024
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373
NM_020533.3(MCOLN1):c.32-10A>G rs371191277
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) rs180687633
NM_020533.3(MCOLN1):c.405+1G>A rs148748724
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=) rs774271399
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=) rs757935075
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) rs528887619
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=) rs200484869
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=)
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371
NM_020533.3(MCOLN1):c.984+1G>A rs767950930

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