ClinVar Miner

Variants with conflicting interpretations studied for Galactosylceramide beta-galactosidase deficiency

Coded as:
Minimum review status of the submission for Galactosylceramide beta-galactosidase deficiency: Y axis collection method of the submission for Galactosylceramide beta-galactosidase deficiency:
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
158 79 0 42 26 0 9 74

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
Galactosylceramide beta-galactosidase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 1 0 0
likely pathogenic 15 0 2 0 0
uncertain significance 3 5 0 6 3
likely benign 0 0 20 0 17
benign 0 1 2 16 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 specified 0 19 0 17 8 0 2 27
Galactosylceramide beta-galactosidase deficiency 273 14 0 17 4 0 3 24
Nonsyndromic Hearing Loss, Recessive 0 0 0 8 15 0 0 23
Retinitis pigmentosa-deafness syndrome 0 0 0 8 15 0 0 23
not provided 0 22 0 16 2 0 5 22
CDH23-Related Disorders 0 0 0 1 10 0 0 11
Abnormality of brain morphology 0 0 0 0 0 0 2 2
Leukodystrophy; Status epilepticus; Global developmental delay; Seizures; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Intrauterine growth retardation; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; EMG abnormality; EMG: axonal abnormality; Loss of ability to walk; Dysmyelinating leukodystrophy 0 0 0 1 0 0 0 1
Usher syndrome, type 1D 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP
NM_000153.3(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.3(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.3(GALC):c.1162-4delT rs11300320
NM_000153.3(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.3(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.3(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.3(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.3(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.3(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.3(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.3(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.3(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.3(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.3(GALC):c.195+15G>A rs748140458
NM_000153.3(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.3(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.3(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.3(GALC):c.329-10_329-8delCTC rs770389075
NM_000153.3(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.3(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.3(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.3(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.3(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.3(GALC):c.433dup (p.Thr145Asnfs) rs1555383679
NM_000153.3(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.3(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.3(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.3(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.3(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.3(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.3(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.3(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.3(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.3(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.3(GALC):c.955delT (p.Tyr319Metfs) rs786204454
NM_000153.3(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.3(GALC):c.96G>T (p.Leu32=) rs113719127
NM_001201401.1(GALC):c.1918T>G (p.Trp640Gly) rs1060499761
NM_002778.3(PSAP):c.*891G>A rs7869
NM_002778.3(PSAP):c.-10A>G rs76455588
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_002778.3(PSAP):c.1351-14A>G rs4747203
NM_002778.3(PSAP):c.1380C>T (p.Pro460=) rs1049882
NM_022124.5(CDH23):c.*104G>C rs377312107
NM_022124.5(CDH23):c.*141G>A rs535544696
NM_022124.5(CDH23):c.*204A>G rs2290022
NM_022124.5(CDH23):c.*349A>G rs1867978
NM_022124.5(CDH23):c.*361C>A rs115033851
NM_022124.5(CDH23):c.*430A>T rs562268606
NM_022124.5(CDH23):c.*434G>A rs529522213
NM_022124.5(CDH23):c.*510G>A rs1054635
NM_022124.5(CDH23):c.*515C>A rs16929375
NM_022124.5(CDH23):c.*588delA rs148667421
NM_022124.5(CDH23):c.*68G>C rs527311705
NM_022124.5(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.5(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.5(CDH23):c.9319+11G>A rs11000013
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.5(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.5(CDH23):c.9510+13C>T rs183692794
NM_022124.5(CDH23):c.9510+16_9510+22delTCAGGCA rs149704197
NM_022124.5(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.5(CDH23):c.9739-12G>A rs200638595
NM_022124.5(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.5(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.5(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.5(CDH23):c.9983G>A (p.Arg3328His) rs148475933

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