ClinVar Miner

Variants with conflicting interpretations studied for Niemann-Pick disease, type C

Coded as:
Minimum review status of the submission for Niemann-Pick disease, type C: Y axis collection method of the submission for Niemann-Pick disease, type C:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
45 11 4 23 12 0 3 37

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.

All conditions
Niemann-Pick disease, type C pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 9 3 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 8 5
likely benign 0 0 1 0 8
benign 0 0 0 5 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Niemann-Pick disease type C1 0 11 3 16 5 0 1 22
not specified 0 2 0 11 8 0 0 19
not provided 0 19 0 4 3 0 2 9
Niemann-Pick disease type C2 0 1 1 1 1 0 0 3

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000271.5(NPC1):c.-32C>T rs114070977
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2514+6C>T rs73392120
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_006432.4(NPC2):c.190+14G>A rs189666920
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006432.4(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260

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