ClinVar Miner

Variants with conflicting interpretations studied for Oculocutaneous albinism

Coded as:
Minimum review status of the submission for Oculocutaneous albinism: Y axis collection method of the submission for 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
72 16 0 20 8 5 3 29

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
Oculocutaneous albinism pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other
pathogenic 0 6 0 0 0 0 0 0 0
likely pathogenic 3 0 0 0 0 0 0 0 0
uncertain significance 2 0 0 6 3 0 1 0 0
likely benign 1 1 2 0 12 2 3 1 1
benign 0 0 0 1 0 0 0 0 0

Condition to condition summary #

Total conditions: 21
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 9 0 11 7 0 0 17
Tyrosinase-negative oculocutaneous albinism 0 6 0 4 1 1 1 6
not provided 0 8 0 3 1 0 0 4
Oculocutaneous albinism 114 0 0 2 1 0 0 3
Oculocutaneous albinism type 1B 0 1 0 3 0 0 1 3
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 0 3 0 3 0 0 0 3
Alpha-methylacyl-CoA racemase deficiency 0 7 0 2 0 0 0 2
Nonsyndromic Oculocutaneous Albinism 0 0 0 2 0 0 0 2
Skin/hair/eye pigmentation, variation in, 1 0 0 0 0 0 2 0 2
Skin/hair/eye pigmentation, variation in, 3 0 0 0 0 0 2 0 2
Albinism 0 0 0 1 0 0 0 1
Albinism; Nystagmus; Myopia 0 0 0 1 0 0 0 1
Autosomal recessive ocular albinism 0 0 0 0 0 1 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 0 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 1 0 0 0 1
Oculocutaneous albinism type 1, temperature sensitive 0 0 0 0 0 0 1 1
Oculocutaneous albinism type 4 0 0 0 0 0 0 1 1
Skin/hair/eye pigmentation 3, blue/green eyes 0 0 0 0 0 1 0 1
Skin/hair/eye pigmentation, variation in, 5 0 0 0 0 0 1 0 1
Waardenburg syndrome 2 and ocular albinism, digenic 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
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.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_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166
NM_000550.3(TYRP1):c.913+9C>T rs147268542
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722
NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) rs34962745

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