ClinVar Miner

Variants with conflicting interpretations studied for Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1

Coded as:
Minimum review status of the submission for Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1: Y axis collection method of the submission for Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
201 25 1 16 12 1 6 35

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.

All conditions
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 2 0 0 0 0 0
uncertain significance 4 2 1 0 0 1
likely benign 0 0 12 0 4 0
benign 0 0 0 10 0 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition 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
not provided 0 13 0 5 10 0 3 17
Familial hypocalciuric hypercalcemia 0 8 0 8 1 0 1 10
Neonatal severe hyperparathyroidism 0 11 0 7 1 0 1 9
Hypocalcemia 0 9 0 7 1 0 0 8
Hypoparathyroidism familial isolated 0 9 0 7 1 0 0 8
not specified 0 15 0 6 1 0 0 7
Hypocalciuric hypercalcemia, familial, type 1 0 3 0 2 0 0 2 4
Epilepsy, idiopathic generalized 8 0 0 0 0 0 1 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590
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.1287C>T (p.His429=) rs746515147
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343

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