ClinVar Miner

Variants in gene CACNA1D 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
155 32 0 15 5 0 0 20

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 4 1
likely benign 0 0 4 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_001128840.3(CACNA1D):c.1220+597C>T rs759274321
NM_001128840.3(CACNA1D):c.1220+678G>A rs386834264
NM_001128840.3(CACNA1D):c.1220+678_1220+679insGGG rs398122827
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) rs74534595
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) rs76868547
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902

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