ClinVar Miner

Variants with conflicting interpretations studied for Tyrosinase-negative oculocutaneous albinism

Coded as:
Minimum review status of the submission for Tyrosinase-negative oculocutaneous albinism: Y axis collection method of the submission for Tyrosinase-negative oculocutaneous albinism:
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
22 30 1 17 1 2 4 22

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
Tyrosinase-negative oculocutaneous albinism pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 0 15 1 0 0 0 0
likely pathogenic 2 0 2 0 0 0 0
uncertain significance 0 1 0 0 0 0 0
benign 0 0 1 1 1 1 0
other 1 1 1 1 1 1 1

Condition to condition summary #

Total conditions: 15
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
Nonsyndromic Oculocutaneous Albinism 0 0 0 7 0 0 1 8
not provided 0 41 0 5 0 1 2 8
Oculocutaneous albinism 0 6 0 4 1 1 1 6
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 0 7 0 5 0 0 1 6
Oculocutaneous albinism type 1B 0 4 0 1 0 1 0 2
Skin/hair/eye pigmentation, variation in, 3 0 0 0 0 0 2 0 2
not specified 0 0 1 0 0 1 0 2
Albinism 0 1 0 1 0 0 0 1
Cutaneous malignant melanoma 8 0 0 0 0 0 1 0 1
Hypoplasia of the fovea; Albinism; Abnormality of metabolism/homeostasis; Elevated hepatic transaminases; Slow decrease in visual acuity; Choroidal neovascularization 0 1 0 0 0 1 0 1
Inborn genetic diseases 0 2 0 1 0 0 0 1
Oculocutaneous albinism type 1, temperature sensitive 0 0 0 0 0 1 0 1
Skin/hair/eye pigmentation 3, blue/green eyes 0 0 0 0 0 1 0 1
Tyrosinase-negative oculocutaneous albinism 59 14 0 1 0 0 0 1
Waardenburg syndrome 2 and ocular albinism, digenic 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 22
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HGVS dbSNP
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797

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