ClinVar Miner

Variants in gene HGD 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
140 9 10 9 5 0 1 24

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 10 5 0 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 0 1 0 5 0
likely benign 0 0 5 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723
NM_000187.4(HGD):c.1188+1G>T rs760206323
NM_000187.4(HGD):c.11T>A (p.Leu4Ter) rs786204422
NM_000187.4(HGD):c.1206A>G (p.Ser402=) rs140500816
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905
NM_000187.4(HGD):c.129G>A (p.Gln43=) rs142789485
NM_000187.4(HGD):c.141G>A (p.Ser47=) rs541268108
NM_000187.4(HGD):c.142G>T (p.Ala48Ser) rs138846036
NM_000187.4(HGD):c.16-1G>A rs397515347
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.474G>T (p.Pro158=) rs2293734
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100
NM_000187.4(HGD):c.765T>C (p.Ala255=) rs747764475
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170

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