ClinVar Miner

Variants in gene CASR 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
1147 21 1 7 5 1 2 15

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 association
pathogenic 0 2 1 0 0 0
likely pathogenic 2 0 1 0 0 0
uncertain significance 1 1 1 3 3 0
likely benign 0 0 3 0 5 0
benign 0 0 3 5 0 1
association 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092

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