| - GRCh37:
- Chr11:88924376
- GRCh38:
- Chr11:89191208
| TYR | C276R | Oculocutaneous albinism | Pathogenic
(Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28116328
- GRCh38:
- Chr15:27871182
| OCA2 | I715T, I739T | Oculocutaneous albinism | Likely pathogenic
(Jun 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28196967-28196970
- GRCh38:
- Chr15:27951821-27951824
| OCA2 | F614fs, F638fs | Oculocutaneous albinism | Likely pathogenic
(Feb 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28277250
- GRCh38:
- Chr15:28032104
| OCA2 | E96A | OCA2-related condition, not provided, Oculocutaneous albinism
| Likely pathogenic
(Oct 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911696
- Chr11:89017961
- GRCh38:
- Chr11:89178528
- Chr11:89284793
| TYR, TYR | S192Y, R402Q | Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B | Likely pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911585
- GRCh38:
- Chr11:89178417
| TYR | T155I | Oculocutaneous albinism, not provided | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911575
- GRCh38:
- Chr11:89178407
| TYR | P152S | not specified, Oculocutaneous albinism, not provided
| Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:89028469
- GRCh38:
- Chr11:89295301
| TYR | E509K | Oculocutaneous albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88911188
- GRCh38:
- Chr11:89178020
| TYR | A23T | Oculocutaneous albinism, not provided | Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:89028340
- GRCh38:
- Chr11:89295172
| TYR | S466A | Oculocutaneous albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:89018063
- GRCh38:
- Chr11:89284895
| TYR | G436A | not provided, Oculocutaneous albinism | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:89017970
- GRCh38:
- Chr11:89284802
| TYR | R405H | Inborn genetic diseases, not provided, Oculocutaneous albinism
| Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88961019
- GRCh38:
- Chr11:89227851
| TYR | | Oculocutaneous albinism, not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88960998
- GRCh38:
- Chr11:89227830
| TYR | | Oculocutaneous albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88924528
- GRCh38:
- Chr11:89191360
| TYR | | Oculocutaneous albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88924383
- GRCh38:
- Chr11:89191215
| TYR | R278Q | not provided, Oculocutaneous albinism | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28269998-28269999
- GRCh38:
- Chr15:28024852-28024853
| OCA2 | L189fs | not provided, Oculocutaneous albinism | Pathogenic/Likely pathogenic
(Aug 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911694
- GRCh38:
- Chr11:89178526
| TYR | | Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism
| Conflicting interpretations of pathogenicity
(Sep 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48431373
- GRCh38:
- Chr15:48139176
| MYEF2, SLC24A5 | | Oculocutaneous albinism, not provided | Likely pathogenic
(Nov 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911826
- GRCh38:
- Chr11:89178658
| TYR | Y235* | Oculocutaneous albinism | Uncertain significance
(Nov 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88960991
- GRCh38:
- Chr11:89227823
| TYR | G346E | Abnormality of the skin, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B,
not provided, Oculocutaneous albinism | Pathogenic/Likely pathogenic
(Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88961115
- GRCh38:
- Chr11:89227947
| TYR | | Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, not provided
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88924530
- GRCh38:
- Chr11:89191362
| TYR | Y327C | Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, not provided
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88911786
- GRCh38:
- Chr11:89178618
| TYR | I222T | not provided, Oculocutaneous albinism, not specified,
Tyrosinase-negative oculocutaneous albinism | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:89028390
- GRCh38:
- Chr11:89295222
| TYR | | Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism
| Uncertain significance
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911428
- GRCh38:
- Chr11:89178260
| TYR | C103R | Oculocutaneous albinism, not provided | Likely pathogenic
(Jun 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88924385
- GRCh38:
- Chr11:89191217
| TYR | | not specified, Oculocutaneous albinism, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28090198
- GRCh38:
- Chr15:27845052
| OCA2 | G780D, G756D | not provided, Tyrosinase-positive oculocutaneous albinism, Inborn genetic diseases,
Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Tyrosinase-positive oculocutaneous albinism
| Pathogenic/Likely pathogenic
(Aug 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88924465
- GRCh38:
- Chr11:89191297
| TYR | D305E | not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism,
Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, Ocular albinism with congenital sensorineural hearing loss,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28259941
- GRCh38:
- Chr15:28014795
| OCA2 | Y342C | Tyrosinase-positive oculocutaneous albinism, OCA2-related condition, Oculocutaneous albinism,
not provided | Conflicting interpretations of pathogenicity
(Oct 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:12710131-12710132
- GRCh38:
- Chr9:12710131-12710132
| LURAP1L-AS1, TYRP1 | | Oculocutaneous albinism | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:12709649-12709652
- GRCh38:
- Chr9:12709649-12709652
| LURAP1L-AS1, TYRP1 | | Oculocutaneous albinism | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:12709499-12709500
- GRCh38:
- Chr9:12709499-12709500
| LURAP1L-AS1, TYRP1 | | Oculocutaneous albinism | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:12709475-12709478
- GRCh38:
- Chr9:12709475-12709478
| LURAP1L-AS1, TYRP1 | | Oculocutaneous albinism | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:33988971
- GRCh38:
- Chr5:33988866
| AMACR, C1QTNF3-AMACR, SLC45A2 | | not provided, Alpha-methylacyl-CoA racemase deficiency, Oculocutaneous albinism
| Benign/Likely benign
(Apr 20, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:33988581
- GRCh38:
- Chr5:33988476
| AMACR, C1QTNF3-AMACR, SLC45A2 | | not provided, Congenital bile acid synthesis defect 4, Alpha-methylacyl-CoA racemase deficiency,
Oculocutaneous albinism | Benign/Likely benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:33988535
- GRCh38:
- Chr5:33988430
| AMACR, C1QTNF3-AMACR, SLC45A2 | | not provided, Congenital bile acid synthesis defect 4, Alpha-methylacyl-CoA racemase deficiency,
Oculocutaneous albinism | Benign/Likely benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:33988235
- GRCh38:
- Chr5:33988130
| AMACR, C1QTNF3-AMACR, SLC45A2 | | not provided, Alpha-methylacyl-CoA racemase deficiency, Oculocutaneous albinism
| Benign/Likely benign
(Apr 20, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:33988216
- GRCh38:
- Chr5:33988111
| AMACR, C1QTNF3-AMACR, SLC45A2 | | not provided, Alpha-methylacyl-CoA racemase deficiency, Oculocutaneous albinism
| Likely benign
(Aug 10, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:33988128
- GRCh38:
- Chr5:33988023
| AMACR, C1QTNF3-AMACR, SLC45A2 | | not provided, Alpha-methylacyl-CoA racemase deficiency, Oculocutaneous albinism
| Benign/Likely benign
(Mar 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:33988054
- GRCh38:
- Chr5:33987949
| AMACR, C1QTNF3-AMACR, SLC45A2 | | Alpha-methylacyl-CoA racemase deficiency, Oculocutaneous albinism | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:33987237
- GRCh38:
- Chr5:33987132
| AMACR, C1QTNF3-AMACR, SLC45A2 | | Alpha-methylacyl-CoA racemase deficiency, Oculocutaneous albinism | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:33951738-33951739
- GRCh38:
- Chr5:33951633-33951634
| SLC45A2 | E359fs | Oculocutaneous albinism, not provided, Oculocutaneous albinism type 4
| Conflicting interpretations of pathogenicity
(Oct 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:33944724
- GRCh38:
- Chr5:33944619
| SLC45A2 | | Oculocutaneous albinism | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:26861473
- GRCh38:
- Chr22:26465507
| HPS4 | T251S, T246S, T269S | Oculocutaneous albinism, not specified, Hermansky-Pudlak syndrome,
not provided, Hermansky-Pudlak syndrome 4 | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28211977-28211980
- GRCh38:
- Chr15:27966831-27966834
| OCA2 | | Oculocutaneous albinism | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:89028764
- GRCh38:
- Chr11:89295596
| TYR | | Oculocutaneous albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:89018026
- GRCh38:
- Chr11:89284858
| TYR | S424T | Oculocutaneous albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88911315
- GRCh38:
- Chr11:89178147
| TYR | L65P | not provided, Oculocutaneous albinism | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911312
- GRCh38:
- Chr11:89178144
| TYR | P64L | Oculocutaneous albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88911085
- GRCh38:
- Chr11:89177917
| TYR | | Oculocutaneous albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88911081
- GRCh38:
- Chr11:89177913
| TYR | | Oculocutaneous albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88911625
- GRCh38:
- Chr11:89178457
| TYR | | Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88911299
- GRCh38:
- Chr11:89178131
| TYR | | not specified, not provided, Oculocutaneous albinism
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911235
- GRCh38:
- Chr11:89178067
| TYR | | not specified, Oculocutaneous albinism, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88961018
- GRCh38:
- Chr11:89227850
| TYR | A355V | not provided, Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism
| Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28171332
- GRCh38:
- Chr15:27926186
| OCA2 | L674V, L650V | Inborn genetic diseases, Oculocutaneous albinism, Respiratory tract infection,
Motor delay, mild, Diarrhea, Congenital nystagmus,
Febrile seizure (within the age range of 3 months to 6 years), not specified, not provided,
Tyrosinase-positive oculocutaneous albinism | Conflicting interpretations of pathogenicity
(Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:33989518
- GRCh38:
- Chr5:33989413
| AMACR, C1QTNF3-AMACR, SLC45A2 | E277K | Oculocutaneous albinism, not specified, Alpha-methylacyl-CoA racemase deficiency,
Congenital bile acid synthesis defect 4 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88924382
- GRCh38:
- Chr11:89191214
| TYR | R278* | TYR-related condition, Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided, Tyrosinase-negative oculocutaneous albinism | Pathogenic
(Apr 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911771
- GRCh38:
- Chr11:89178603
| TYR | R217Q | Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism
| Pathogenic/Likely pathogenic
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:89018126
- GRCh38:
- Chr11:89284958
| TYR | | Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism, not specified,
not provided, Tyrosinase-negative oculocutaneous albinism | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88961122
- GRCh38:
- Chr11:89227954
| TYR | H390D | Oculocutaneous albinism | Pathogenic
(Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:88960984
- GRCh38:
- Chr11:89227816
| TYR | | Myopia, Nystagmus, Albinism,
TYR-related condition, Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, not provided, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinismOculocutaneous albinism type 1B,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Ocular albinism, Abnormality of the skin,
...see more | Pathogenic/Likely pathogenic
(Sep 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911122
- GRCh38:
- Chr11:89177954
| TYR | M1V | Albinism, Nystagmus, Myopia,
Hypoplasia of the fovea, Albinism, Abnormality of metabolism/homeostasis,
Slow decrease in visual acuity, Elevated hepatic transaminase, Choroidal neovascularization,
Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKINOcular albinism with congenital sensorineural hearing loss,
Oculocutaneous albinism type 1B, Oculocutaneous albinism, not provided,
Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, Hypopigmentation of the skin,
Hypopigmentation of hair, Iris transillumination defect, Horizontal nystagmus,
Abnormality of the skin, ...see more | Pathogenic/Likely pathogenic
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:89018092
- GRCh38:
- Chr11:89284924
| TYR | G446S | Oculocutaneous albinism, not provided, Oculocutaneous albinism type 1B,
Tyrosinase-negative oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | Pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:89017965
- GRCh38:
- Chr11:89284797
| TYR | R403S | Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism
| Pathogenic/Likely pathogenic
(Sep 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911285
- GRCh38:
- Chr11:89178117
| TYR | C55Y | Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, Oculocutaneous albinism, not provided,
Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism | Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:89017961
- GRCh38:
- Chr11:89284793
| TYR | R402Q | Slow decrease in visual acuity, Hypoplasia of the fovea, Abnormality of metabolism/homeostasis,
Elevated hepatic transaminase, Albinism, Choroidal neovascularization,
Oculocutaneous albinism, not specified, not provided,
Tyrosinase-negative oculocutaneous albinism | Conflicting interpretations of pathogenicity; other
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88911696
- GRCh38:
- Chr11:89178528
| TYR | S192Y | Oculocutaneous albinism, not specified, not provided,
Tyrosinase-negative oculocutaneous albinism | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:89017973
- GRCh38:
- Chr11:89284805
| TYR | P406L | Inborn genetic diseases, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Ocular albinism with congenital sensorineural hearing loss,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Oculocutaneous albinism,
not provided, Abnormality of the skin, Oculocutaneous albinism type 1B,
Tyrosinase-negative oculocutaneous albinism, Hearing impairment ...see more | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:88961101
- GRCh38:
- Chr11:89227933
| TYR | D383N | TYR-related condition, Inborn genetic diseases, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
Ocular albinism with congenital sensorineural hearing loss, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Oculocutaneous albinism,
not provided, Tyrosinase-negative oculocutaneous albinism ...see more | Pathogenic
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88961072
- GRCh38:
- Chr11:89227904
| TYR | T373K | TYR-related condition, TYR-related disorder, Oculocutaneous albinism,
not provided, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B
| Pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88924373
- GRCh38:
- Chr11:89191205
| TYR | V275F | TYR-related condition, Oculocutaneous albinism, not provided,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B | Pathogenic/Likely pathogenic
(Nov 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:88911363
- GRCh38:
- Chr11:89178195
| TYR | P81L | Inborn genetic diseases, TYR-related disorder, Oculocutaneous albinism,
not provided, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B
| Pathogenic
(Sep 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28171315
- GRCh38:
- Chr15:27926169
| OCA2 | W679C, W655C | Oculocutaneous albinism, not provided, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES,
Tyrosinase-positive oculocutaneous albinism | Conflicting interpretations of pathogenicity
(Jun 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28200303
- GRCh38:
- Chr15:27955157
| OCA2 | | Oculocutaneous albinism, not provided | Pathogenic/Likely pathogenic
(Jul 31, 2023) | criteria provided, multiple submitters, no conflicts |