ClinVar Miner

Variants in gene CTSD 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
154 20 0 22 24 0 1 40

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 20 11
likely benign 0 20 0 22
benign 0 11 22 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_001909.4(CTSD):c.*19G>A rs201434721
NM_001909.4(CTSD):c.-24C>T rs587780917
NM_001909.4(CTSD):c.-37G>A rs756112449
NM_001909.4(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.4(CTSD):c.1071+7G>A rs374010531
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.4(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.4(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.4(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.4(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.4(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.4(CTSD):c.153C>T (p.Pro51=) rs560041488
NM_001909.4(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.4(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.4(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.4(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.4(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.4(CTSD):c.267C>G (p.Pro89=) rs139154882
NM_001909.4(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.4(CTSD):c.353-12C>T rs141523461
NM_001909.4(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.4(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.4(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.4(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.4(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.4(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.4(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.4(CTSD):c.827+13T>C rs369602025
NM_001909.4(CTSD):c.828-19A>C rs200047861
NM_001909.4(CTSD):c.828-5C>T rs762444592
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.4(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.4(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.4(CTSD):c.926G>A (p.Arg309His) rs374540411
NM_001909.4(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.4(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.4(CTSD):c.972+10G>A rs531682785
NM_001909.4(CTSD):c.972+9C>T rs746243061

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