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Links from MedGen

Items: 47

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:88961063
GRCh38:
Chr11:89227895
TYRM370KTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1BLikely pathogenic
(Jun 8, 2020)		criteria provided, single submitter
2.
GRCh37:
Chr11:89018078
GRCh38:
Chr11:89284910
TYRS441fsOculocutaneous albinism type 1BPathogenic
(May 8, 2023)		criteria provided, single submitter
3.
GRCh37:
ChrX:74651287
GRCh38:
ChrX:75431452
ZDHHC15M141V, M150VOculocutaneous albinism type 1BUncertain significance
(May 8, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr11:88911218
GRCh38:
Chr11:89178050
TYRK33EOculocutaneous albinism type 1BLikely pathogenic
(Mar 23, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr11:89017993
GRCh38:
Chr11:89284825
TYRE413fsOculocutaneous albinism type 1BPathogenic
(Jun 24, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr11:88924599
GRCh38:
Chr11:89191431
TYRTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided		Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:88911169
GRCh38:
Chr11:89178001
TYRnot provided, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B		Likely benign
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:88924442
GRCh38:
Chr11:89191274
TYRR298WTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:88911510
GRCh38:
Chr11:89178342
TYRE130VTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:89028453
GRCh38:
Chr11:89295285
TYRK503Nnot specified, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN		Uncertain significance
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:88911696
Chr11:89017961
GRCh38:
Chr11:89178528
Chr11:89284793
TYR, TYRS192Y, R402QTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1BLikely pathogenic
(Feb 17, 2023)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:88961010
GRCh38:
Chr11:89227842
TYROculocutaneous albinism type 1BPathogenic
(Jun 20, 2019)		criteria provided, single submitter
13.
GRCh37:
Chr11:88960991-88961138
TYROculocutaneous albinism type 1BPathogenic
(Dec 2, 2020)		no assertion criteria provided
14.
GRCh37:
Chr11:89017939
GRCh38:
Chr11:89284771
TYRTyrosinase-negative oculocutaneous albinism, not provided, Oculocutaneous albinism type 1B
Pathogenic
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr11:88911510-88911512
GRCh38:
Chr11:89178342-89178344
TYRK131delOculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:88911242
GRCh38:
Chr11:89178074
TYRG41Rnot provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B
Conflicting interpretations of pathogenicity
(Sep 26, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr11:88960991
GRCh38:
Chr11:89227823
TYRG346EAbnormality 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
18.
GRCh37:
Chr11:89018108
GRCh38:
Chr11:89284940
TYRY451CAlbinism, Fair hair, Hypopigmentation of the skin,
Ocular albinism, Horizontal nystagmus, Abnormal retinal morphology,
Strabismus, Abnormal optic nerve morphology, not provided,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B ...see more		Likely pathogenic
(Aug 28, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:89028334-89028335
GRCh38:
Chr11:89295166-89295167
TYRK465*Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided		Likely pathogenic
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:88924465
GRCh38:
Chr11:89191297
TYRD305Enot 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
21.
GRCh37:
Chr11:88924526
GRCh38:
Chr11:89191358
TYRQ326*not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B
Pathogenic
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:88961021
GRCh38:
Chr11:89227853
TYRD356VTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:88911860
GRCh38:
Chr11:89178692
TYRC247Rnot provided, Tyrosinase-negative oculocutaneous albinismLikely pathogenic
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:88911672
GRCh38:
Chr11:89178504
TYRS184*Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinismLikely pathogenicno assertion criteria provided
25.
GRCh37:
Chr11:88911284
GRCh38:
Chr11:89178116
TYRC55GOculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinismnot providedno assertion provided
26.
GRCh37:
Chr11:88924425
GRCh38:
Chr11:89191257
TYRT292MTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
not provided		Uncertain significance
(Jan 31, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr11:88924382
GRCh38:
Chr11:89191214
TYRR278*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
28.
GRCh37:
Chr11:88911467
GRCh38:
Chr11:89178299
TYRR116*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
(Feb 3, 2023)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:89018126
GRCh38:
Chr11:89284958
TYRTyrosinase-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
30.
GRCh37:
Chr11:89017955
GRCh38:
Chr11:89284787
TYRW400LTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism, not provided
Pathogenic/Likely pathogenic
(Feb 6, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:88960984
GRCh38:
Chr11:89227816
TYRMyopia, 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
32.
GRCh37:
Chr11:88960990
GRCh38:
Chr11:89227822
TYRnot provided, Tyrosinase-negative oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN		Pathogenic/Likely pathogenic
(May 8, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr11:88911122
GRCh38:
Chr11:89177954
TYRM1VAlbinism, 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
34.
GRCh37:
Chr11:89028410-89028411
GRCh38:
Chr11:89295242-89295243
TYRA490fsnot provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B,
Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism
Pathogenic/Likely pathogenic
(Aug 2, 2023)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr11:89018092
GRCh38:
Chr11:89284924
TYRG446SOculocutaneous 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
36.
GRCh37:
Chr11:88911770
GRCh38:
Chr11:89178602
TYRR217WOculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, Tyrosinase-negative oculocutaneous albinism,
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B		Conflicting interpretations of pathogenicity
(Jun 22, 2023)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr11:88911261
GRCh38:
Chr11:89178093
TYRG47DTYR-related condition, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Ocular albinism with congenital sensorineural hearing loss,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, not provided,
Tyrosinase-negative oculocutaneous albinism, Inborn genetic diseases		Pathogenic/Likely pathogenic
(Sep 18, 2023)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr11:89018011
GRCh38:
Chr11:89284843
TYRG419Rnot provided, Oculocutaneous albinism type 1, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN		Pathogenic
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr11:88911285
GRCh38:
Chr11:89178117
TYRC55YOcular 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
40.
GRCh37:
Chr11:89018021
GRCh38:
Chr11:89284853
TYRR422Qnot provided, Oculocutaneous albinism type 1BPathogenic
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:89017961
GRCh38:
Chr11:89284793
TYRR402QSlow 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
42.
GRCh37:
Chr11:89017973
GRCh38:
Chr11:89284805
TYRP406LInborn 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
43.
GRCh37:
Chr11:88911351
GRCh38:
Chr11:89178183
TYRR77QTYR-related condition, not provided, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism,
See cases		Pathogenic
(Aug 14, 2023)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:88961101
GRCh38:
Chr11:89227933
TYRD383NTYR-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
45.
GRCh37:
Chr11:88961072
GRCh38:
Chr11:89227904
TYRT373KTYR-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
46.
GRCh37:
Chr11:88924373
GRCh38:
Chr11:89191205
TYRV275FTYR-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
47.
GRCh37:
Chr11:88911363
GRCh38:
Chr11:89178195
TYRP81LInborn 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
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