ClinVar Miner

Variants in gene VPS13D 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
1106 79 0 23 11 0 0 34

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 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 11 0
likely benign 0 0 11 0 20
benign 0 0 0 20 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.9024T>C (p.Ile3008=) rs41279460 0.01391
NM_015378.4(VPS13D):c.8647C>T (p.Arg2883Cys) rs143194636 0.00505
NM_015378.4(VPS13D):c.2859G>A (p.Gln953=) rs139222925 0.00503
NM_015378.4(VPS13D):c.613A>G (p.Ile205Val) rs61774897 0.00232
NM_015378.4(VPS13D):c.6282G>A (p.Thr2094=) rs111417481 0.00223
NM_015378.4(VPS13D):c.3960C>T (p.Ser1320=) rs77854026 0.00219
NM_015378.4(VPS13D):c.1029G>A (p.Leu343=) rs145431020 0.00206
NM_015378.4(VPS13D):c.11882-8T>C rs144848289 0.00201
NM_015378.4(VPS13D):c.9501A>G (p.Ala3167=) rs140401958 0.00152
NM_015378.4(VPS13D):c.849C>T (p.Tyr283=) rs138858983 0.00136
NM_015378.4(VPS13D):c.11061C>T (p.Leu3687=) rs144641446 0.00123
NM_015378.4(VPS13D):c.459A>C (p.Gln153His) rs116415833 0.00120
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln) rs143933696 0.00066
NM_015378.4(VPS13D):c.12140A>G (p.Asn4047Ser) rs138906978 0.00062
NM_015378.4(VPS13D):c.10636A>G (p.Met3546Val) rs142394129 0.00047
NM_015378.4(VPS13D):c.3178G>A (p.Asp1060Asn) rs200303790 0.00044
NM_015378.4(VPS13D):c.1728A>G (p.Gln576=) rs142087616 0.00027
NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser) rs184253678 0.00013
NM_015378.4(VPS13D):c.10755G>A (p.Arg3585=) rs779699599 0.00006
NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=) rs746257631 0.00004
NM_015378.4(VPS13D):c.10005G>A (p.Thr3335=) rs147297376
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.10818_10821del (p.Gly3607fs)
NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)
NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)
NM_015378.4(VPS13D):c.2856G>A (p.Ser952=)
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015378.4(VPS13D):c.5235G>A (p.Ala1745=)
NM_015378.4(VPS13D):c.5270A>T (p.Asp1757Val)
NM_015378.4(VPS13D):c.8561T>G (p.Leu2854Arg)
NM_015378.4(VPS13D):c.9762C>T (p.Leu3254=)

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