ClinVar Miner

Variants in gene DIAPH1 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 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
143 21 0 13 9 0 1 21

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 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 8 3
likely benign 0 0 8 0 12
benign 0 0 3 12 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_001079812.2(DIAPH1):c.1821_1826dup (p.Pro611_Leu612insProPro) rs3075570
NM_001079812.2(DIAPH1):c.2305C>T (p.Gln769Ter) rs730882242
NM_005219.4(DIAPH1):c.-22G>T rs530831319
NM_005219.4(DIAPH1):c.117+14C>T rs2074913
NM_005219.4(DIAPH1):c.1407T>C (p.Ile469=) rs75860159
NM_005219.4(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129
NM_005219.4(DIAPH1):c.1736G>A (p.Arg579His) rs182139018
NM_005219.4(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.4(DIAPH1):c.1848_1853delTCCTCC (p.Pro619_Pro620del) rs3075570
NM_005219.4(DIAPH1):c.1851_1853dupTCC (p.Pro620_Leu621insPro) rs3075570
NM_005219.4(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335
NM_005219.4(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811
NM_005219.4(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260
NM_005219.4(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573
NM_005219.4(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102
NM_005219.4(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.4(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269
NM_005219.4(DIAPH1):c.390C>T (p.Tyr130=) rs34296458
NM_005219.4(DIAPH1):c.402+12delG rs555848272
NM_005219.4(DIAPH1):c.627C>T (p.Tyr209=) rs369494682
NM_005219.4(DIAPH1):c.685-5A>G rs367786290

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