ClinVar Miner

Variants with conflicting interpretations studied for Congenital cataract

Coded as:
Minimum review status of the submission for Congenital cataract: Y axis collection method of the submission for Congenital cataract:
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
190 59 0 18 17 0 1 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
Congenital cataract pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
likely pathogenic 2 0 0 0
uncertain significance 1 0 11 7
likely benign 0 0 0 14
benign 0 0 1 0

Condition to condition summary #

Total conditions: 17
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 8 11 0 0 19
Cataract, autosomal recessive congenital 2 0 1 0 7 5 0 0 12
Cataract 1 0 0 0 2 0 0 0 2
Cataract, autosomal dominant 0 2 0 2 0 0 0 2
Cataract, autosomal recessive congenital 4 0 0 0 2 0 0 0 2
not provided 0 2 0 1 1 0 0 2
Alpha-B crystallinopathy 0 0 0 0 1 0 0 1
Anterior segment dysgenesis 7 0 0 0 1 0 0 0 1
Cardiovascular phenotype 0 0 0 0 1 0 0 1
Cataract 3, multiple types 0 0 0 1 0 0 0 1
Cataract 30 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1II 0 0 0 0 1 0 1 1
History of neurodevelopmental disorder 0 0 0 0 1 0 0 1
Lowe syndrome 0 0 0 0 1 0 0 1
Myofibrillar Myopathy, Dominant 0 0 0 0 1 0 0 1
Posterior polar cataract 0 0 0 0 1 0 0 1
Zonular Pulverulent Cataract 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000394.3(CRYAA):c.246G>A (p.Pro82=) rs61735856
NM_000394.3(CRYAA):c.327C>T (p.Tyr109=) rs79100529
NM_000394.3(CRYAA):c.444T>A (p.Thr148=) rs61735857
NM_000496.2(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_003380.3(VIM):c.15delC (p.Val6Cysfs) rs864309690
NM_005267.4(GJA8):c.134G>C (p.Trp45Ser) rs864309688
NM_005267.4(GJA8):c.658A>G (p.Asn220Asp) rs138140155
NM_012293.2(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697
NM_014290.2(TDRD7):c.1800T>C (p.Cys600=) rs12552100
NM_014290.2(TDRD7):c.1923G>A (p.Lys641=) rs41281938
NM_014290.2(TDRD7):c.2001C>G (p.Leu667=) rs764337688
NM_014290.2(TDRD7):c.588A>G (p.Gln196=) rs7853578
NM_014290.2(TDRD7):c.912G>A (p.Lys304=) rs78579695
NM_018238.3(AGK):c.804C>T (p.Thr268=) rs543549513
NM_018238.3(AGK):c.863C>T (p.Ala288Val) rs763068104
NM_018238.3(AGK):c.877+14C>T rs41275003
NM_018238.4(AGK):c.424-11T>C rs200973491
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_024513.3(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916
NM_024513.3(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450
NM_024513.3(FYCO1):c.2179C>A (p.His727Asn) rs36014492
NM_024513.3(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630
NM_024513.3(FYCO1):c.3001_3003delAACinsGAA (p.Asn1001Glu) rs71622515
NM_024513.3(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620
NM_024513.3(FYCO1):c.3705C>A (p.Gly1235=) rs367690473
NM_024513.3(FYCO1):c.3789A>G (p.Thr1263=) rs41289618
NM_024513.3(FYCO1):c.3825G>A (p.Pro1275=) rs748985200
NM_024513.3(FYCO1):c.4086G>A (p.Glu1362=) rs137986696
NM_024513.3(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612
NM_024513.3(FYCO1):c.713A>C (p.Glu238Ala) rs117543659
NM_024513.3(FYCO1):c.753G>T (p.Glu251Asp) rs3821885
NM_024513.3(FYCO1):c.845G>A (p.Arg282His) rs9875356

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