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Items: 1 to 100 of 202

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:75652798-98228688
GRCh38:
Chr11:75941754-98357960
See casesPathogenic
(Dec 30, 2009)
no assertion criteria providedVCV000144356
2.
GRCh37:
Chr11:77943882-106650146
GRCh38:
Chr11:78232836-106779420
BIRC2, BIRC3, CASP1, CASP4, CASP5, CTSC, DLG2, FUT4, GRIA4, GRM5, GUCY1A2, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, PGR, PRCP, TRPC6, TYR, PICALM, FZD4, JRKL, EED, MTMR2, MMP20, MED17, CEP57, GAB2, NAALAD2, YAP1, ME3, GPR83, SRSF8, PRSS23, ENDOD1, RAB38, PANX1, TENM4, CHORDC1, RAB30, C11orf54, NOX4, HIKESHI, CWC15, PCF11, CNTN5, SYTL2, ANKRD49, KDM4D, TMEM126B, SMCO4, TRIM49, CEP126, CREBZF, CARD18, CCDC90B, CCDC81, AASDHPPT, MMP27, TMEM135, TAF1D, DYNC2H1, NARS2, CCDC82, PDGFD, TMEM133, TMEM126A, DCUN1D5, MSANTD4, MAML2, CFAP300, CEP295, CARD16, TMEM123, SLC36A4, FAT3, TRIM64, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, AMOTL1, DEUP1, FOLH1B, DDIAS, CCDC83, FAM181B, CCDC89, ANGPTL5, ANKRD42, HEPHL1, VSTM5, TRIM77, IZUMO1R, KDM4E, TRIM49D1, DDI1, CARD17, SCARNA9, TRIM64B, TRIM49C, UBTFL1, C11orf97, SNORA8, SNORA1, SNORA18, SNORA40, SNORA25, SNORA32, SNORD5, SNORD6, TRIM49D2, MIR708, LOC100128088, LOC100128386, LOC100129203, MIR1261, MIR1304, MIR548L, SNORA70E, MIR4300, MIR1260B, MIR3166, MIR3920, RAB30-DT, LOC100506282, FZD4-DT, CASP12, MIR4490, MIR4693, MIR5579, GRM5-AS1, JRKL-AS1, PGR-AS1, LOC101928424, LOC101928535, LINC02728, LOC101928896, LINC02720, MIR4300HG, DLG2-AS2, DISC1FP1, LOC101929295, MIR6755, MIR7641-1, LOC102723838, LINC02552, LINC02734, LINC02711, LINC02748, LINC02756, LINC02746, LINC02700, LOC105369438, LINC02737, LINC02553, LINC02713, LINC02719, PCF11-AS1, LOC107080646, ME3-DT, LOC108281118, SNORD13I, LOC111591509, LOC111721716, LOC111982889, LOC112136091, LOC112136093, LOC112136095, LOC112136096, LOC112136097, LOC114827859
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058918
3.
GRCh37:
Chr11:84953891-102738968
GRCh38:
Chr11:85242847-102920097
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058919
4.
GRCh37:
Chr11:88477497-89018343
GRCh38:
Chr11:88744329-89285175
GRM5, TYR, LOC107080646See casesUncertain significance
(Sep 30, 2010)
no assertion criteria providedVCV000145456
5.
GRCh37:
Chr11:88910320-88910321
GRCh38:
Chr11:89177152-89177153
TYRnot providednot providedno assertion providedVCV000099523
6.
GRCh37:
Chr11:88910430-88910431
GRCh38:
Chr11:89177262-89177263
TYRnot providednot providedno assertion providedVCV000099522
7.
GRCh37:
Chr11:88910439-88910440
GRCh38:
Chr11:89177271-89177272
TYRnot providednot providedno assertion providedVCV000099521
8.
GRCh37:
Chr11:88910923
GRCh38:
Chr11:89177755
TYRnot provided, Tyrosinase-negative oculocutaneous albinismBenign
(Jan 1, 1993)
no assertion criteria providedVCV000003783
9.
GRCh37:
Chr11:88911081
GRCh38:
Chr11:89177913
TYROculocutaneous albinismUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000306441
10.
GRCh37:
Chr11:88911085
GRCh38:
Chr11:89177917
TYROculocutaneous albinismUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000306442
11.
GRCh37:
Chr11:88911112
GRCh38:
Chr11:89177944
TYRnot specifiedLikely benigncriteria provided, single submitterVCV000255955
12.
GRCh37:
Chr11:88911113-88911115
GRCh38:
Chr11:89177945-89177947
TYRnot providednot providedno assertion providedVCV000127112
13.
GRCh37:
Chr11:88911122
GRCh38:
Chr11:89177954
TYRM1VAlbinism, Abnormality of metabolism/homeostasis, Slow decrease in visual acuity,
Hypoplasia of the fovea, Elevated hepatic transaminases, Choroidal neovascularization,
Oculocutaneous albinism type 1B, Albinism, ocular, with sensorineural deafness, Skin/hair/eye pigmentation, variation in, 3,
Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1BAlbinism,
Myopia, Nystagmus, not provided,
Albinism, Tyrosinase-negative oculocutaneous albinism, Iris transillumination defect,
Horizontal nystagmus, Hypopigmentation of hair, Hypopigmentation of the skin,
...see more
Pathogenic
(Nov 22, 2018)
criteria provided, multiple submitters, no conflictsVCV000003807
14.
GRCh37:
Chr11:88911123
GRCh38:
Chr11:89177955
TYRM1Tnot providednot providedno assertion providedVCV000099561
15.
GRCh37:
Chr11:88911146
GRCh38:
Chr11:89177978
TYRL9fsnot providednot providedno assertion providedVCV000099558
16.
GRCh37:
Chr11:88911173
GRCh38:
Chr11:89178005
TYRG18fsnot providednot providedno assertion providedVCV000099569
17.
GRCh37:
Chr11:88911178
GRCh38:
Chr11:89178010
TYRH19Qnot providednot providedno assertion providedVCV000099571
18.
GRCh37:
Chr11:88911182
GRCh38:
Chr11:89178014
TYRP21Snot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jul 15, 1992)
no assertion criteria providedVCV000003793
19.
GRCh37:
Chr11:88911195
GRCh38:
Chr11:89178027
TYROcular albinismPathogenic
(Mar 25, 2016)
no assertion criteria providedVCV000373911
20.
GRCh37:
Chr11:88911222
GRCh38:
Chr11:89178054
TYRE34ATyrosinase-negative oculocutaneous albinismLikely pathogenic
(Aug 18, 2016)
criteria provided, single submitterVCV000437174
21.
GRCh37:
Chr11:88911228
GRCh38:
Chr11:89178060
TYRC36Ynot providednot providedno assertion providedVCV000099530
22.
GRCh37:
Chr11:88911235
GRCh38:
Chr11:89178067
TYRnot specifiedLikely benigncriteria provided, single submitterVCV000255956
23.
GRCh37:
Chr11:88911237
GRCh38:
Chr11:89178069
TYRW39*not providedPathogenic
(Jul 17, 2017)
criteria provided, single submitterVCV000449541
24.
GRCh37:
Chr11:88911242
GRCh38:
Chr11:89178074
TYRG41RTyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1BLikely pathogenic
(Jun 21, 2019)
criteria provided, single submitterVCV000689488
25.
GRCh37:
Chr11:88911246
GRCh38:
Chr11:89178078
TYRD42Gnot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jul 15, 1992)
no assertion criteria providedVCV000003789
26.
GRCh37:
Chr11:88911259
GRCh38:
Chr11:89178091
TYRC46*not providedLikely pathogenic
(Oct 9, 2018)
criteria provided, single submitterVCV000620388
27.
GRCh37:
Chr11:88911260
GRCh38:
Chr11:89178092
TYRG47Sno interpretation for the single variantno interpretation for the single variantVCV000242611
28.
GRCh37:
Chr11:88911261
GRCh38:
Chr11:89178093
TYRG47DOculocutaneous albinism type 1B, Albinism, ocular, with sensorineural deafness, Skin/hair/eye pigmentation, variation in, 3,
Tyrosinase-negative oculocutaneous albinism, not provided, Oculocutaneous albinism type 1B,
Tyrosinase-negative oculocutaneous albinism
Pathogenic/Likely pathogenic
(Dec 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000003794
29.
GRCh37:
Chr11:88911270
GRCh38:
Chr11:89178102
TYRS50*not providednot providedno assertion providedVCV000099550
30.
GRCh37:
Chr11:88911276
GRCh38:
Chr11:89178108
TYRR52Inot providednot providedno assertion providedVCV000099551
31.
GRCh37:
Chr11:88911278
GRCh38:
Chr11:89178110
TYRG53CTyrosinase-negative oculocutaneous albinismLikely pathogenic
(Mar 26, 2019)
no assertion criteria providedVCV000627594
32.
GRCh37:
Chr11:88911284
GRCh38:
Chr11:89178116
TYRC55GOculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinismnot providedno assertion providedVCV000144104
33.
GRCh37:
Chr11:88911285
GRCh38:
Chr11:89178117
TYRC55SNonsyndromic Oculocutaneous Albinism, Tyrosinase-negative oculocutaneous albinismUncertain significancecriteria provided, single submitterVCV000617794
34.
GRCh37:
Chr11:88911285
GRCh38:
Chr11:89178117
TYRC55YOculocutaneous albinism type 1B, Albinism, ocular, with sensorineural deafness, Skin/hair/eye pigmentation, variation in, 3,
Tyrosinase-negative oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism,
not provided
Pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000003790
35.
GRCh37:
Chr11:88911295
GRCh38:
Chr11:89178127
TYRI58Mnot providedUncertain significance
(Sep 30, 2018)
criteria provided, single submitterVCV000623787
36.
GRCh37:
Chr11:88911299
GRCh38:
Chr11:89178131
TYRnot specifiedBenigncriteria provided, single submitterVCV000255957
37.
GRCh37:
Chr11:88911312
GRCh38:
Chr11:89178144
TYRP64LOculocutaneous albinismUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000306443
38.
GRCh37:
Chr11:88911315
GRCh38:
Chr11:89178147
TYRL65POculocutaneous albinismUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000306444
39.
GRCh37:
Chr11:88911344
GRCh38:
Chr11:89178176
TYRD75YNonsyndromic Oculocutaneous AlbinismLikely pathogenic
(Mar 7, 2017)
no assertion criteria providedVCV000617795
40.
GRCh37:
Chr11:88911344
GRCh38:
Chr11:89178176
TYRD75fsnot providednot providedno assertion providedVCV000099552
41.
GRCh37:
Chr11:88911350
GRCh38:
Chr11:89178182
TYRR77WTyrosinase-negative oculocutaneous albinism, not providedPathogenic
(May 15, 2015)
no assertion criteria providedVCV000099553
42.
GRCh37:
Chr11:88911351
GRCh38:
Chr11:89178183
TYRR77Q, R59QTyrosinase-negative oculocutaneous albinism, not providedPathogenic/Likely pathogenic
(May 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000003776
43.
GRCh37:
Chr11:88911352-88911353
GRCh38:
Chr11:89178184-89178185
TYRnot providednot providedno assertion providedVCV000099554
44.
GRCh37:
Chr11:88911353
GRCh38:
Chr11:89178185
TYRE78*not providednot providedno assertion providedVCV000099555
45.
GRCh37:
Chr11:88911359
GRCh38:
Chr11:89178191
TYRW80Rnot providednot providedno assertion providedVCV000099556
46.
GRCh37:
Chr11:88911360
GRCh38:
Chr11:89178192
TYRW80*not providedLikely pathogenic
(Feb 28, 2018)
criteria provided, single submitterVCV000504389
47.
GRCh37:
Chr11:88911361
GRCh38:
Chr11:89178193
TYRW80*not providednot providedno assertion providedVCV000099557
48.
GRCh37:
Chr11:88911363
GRCh38:
Chr11:89178195
TYRP81LInborn genetic diseases, Oculocutaneous albinism, not provided,
Albinism, Tyrosinase-negative oculocutaneous albinism
Pathogenic
(Oct 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000003772
49.
GRCh37:
Chr11:88911386
GRCh38:
Chr11:89178218
TYRC89Rnot provided, Albinism, Horizontal nystagmus,
Ocular albinism, Hypopigmentation of the skin, Abnormal retinal morphology,
Fair hair, Abnormality of the optic nerve, Strabismus,
Tyrosinase-negative oculocutaneous albinism
Pathogenic
(Jan 1, 2017)
criteria provided, single submitterVCV000003781
50.
GRCh37:
Chr11:88911393
GRCh38:
Chr11:89178225
TYRC91Y, C321YTyrosinase-negative oculocutaneous albinismPathogenic
(Oct 5, 2012)
no assertion criteria providedVCV000039977
51.
GRCh37:
Chr11:88911407
GRCh38:
Chr11:89178239
TYRM96Nnot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jul 1, 1991)
no assertion criteria providedVCV000003788
52.
GRCh37:
Chr11:88911410
GRCh38:
Chr11:89178242
TYRG97Rnot providednot providedno assertion providedVCV000099560
53.
GRCh37:
Chr11:88911428
GRCh38:
Chr11:89178260
TYRC103Rnot providedLikely pathogenic
(Apr 30, 2017)
criteria provided, single submitterVCV000444269
54.
GRCh37:
Chr11:88911446
GRCh38:
Chr11:89178278
TYRG109RHypoplasia of the fovea, Albinism, Choroidal neovascularization,
Slow decrease in visual acuity, Abnormality of metabolism/homeostasis, Elevated hepatic transaminases,
not provided
Likely pathogenic
(Jan 1, 2017)
criteria provided, single submitterVCV000099562
55.
GRCh37:
Chr11:88911459-88911460
GRCh38:
Chr11:89178291-89178292
TYRnot providedPathogenic
(Jan 16, 2017)
criteria provided, single submitterVCV000099563
56.
GRCh37:
Chr11:88911461-88911462
GRCh38:
Chr11:89178293-89178294
TYRnot providednot providedno assertion providedVCV000099564
57.
GRCh37:
Chr11:88911467
GRCh38:
Chr11:89178299
TYRR116*Tyrosinase-negative oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 3, Tyrosinase-negative oculocutaneous albinism,
Oculocutaneous albinism type 1B, Albinism, ocular, with sensorineural deafness, not provided
Pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000099565
58.
GRCh37:
Chr11:88911508-88911510
GRCh38:
Chr11:89178340-89178342
TYRTyrosinase-negative oculocutaneous albinismPathogenic
(Feb 23, 2018)
criteria provided, single submitterVCV000585290
59.
GRCh37:
Chr11:88911567
GRCh38:
Chr11:89178399
TYRY149CTyrosinase-negative oculocutaneous albinismLikely pathogenic
(Feb 26, 2015)
criteria provided, single submitterVCV000212522
60.
GRCh37:
Chr11:88911573
GRCh38:
Chr11:89178405
TYRI151STyrosinase-negative oculocutaneous albinismLikely pathogenic
(Mar 20, 2017)
criteria provided, single submitterVCV000437181
61.
GRCh37:
Chr11:88911577
GRCh38:
Chr11:89178409
TYRnot providednot providedno assertion providedVCV000099566
62.
GRCh37:
Chr11:88911579
GRCh38:
Chr11:89178411
TYRnot providednot providedno assertion providedVCV000099567
63.
GRCh37:
Chr11:88911625
GRCh38:
Chr11:89178457
TYRnot providedUncertain significance
(May 19, 2016)
criteria provided, single submitterVCV000288251
64.
GRCh37:
Chr11:88911626-88911628
GRCh38:
Chr11:89178458-89178460
TYRD169delnot providedUncertain significance
(Mar 12, 2015)
criteria provided, single submitterVCV000193089
65.
GRCh37:
Chr11:88911645
GRCh38:
Chr11:89178477
TYRL175Pnot providedLikely pathogenic
(Aug 12, 2016)
criteria provided, single submitterVCV000421753
66.
GRCh37:
Chr11:88911647
GRCh38:
Chr11:89178479
TYRF176Inot providednot providedno assertion providedVCV000099568
67.
GRCh37:
Chr11:88911650
GRCh38:
Chr11:89178482
TYRV177LTyrosinase-negative oculocutaneous albinismLikely pathogenic
(Mar 26, 2019)
no assertion criteria providedVCV000627595
68.
GRCh37:
Chr11:88911654
GRCh38:
Chr11:89178486
TYRW178*not provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jul 1, 1991)
no assertion criteria providedVCV000003784
69.
GRCh37:
Chr11:88911672
GRCh38:
Chr11:89178504
TYRS184*Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinismLikely pathogenicno assertion criteria providedVCV000144105
70.
GRCh37:
Chr11:88911693
GRCh38:
Chr11:89178525
TYRG191D, G191fsnot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Oct 23, 2015)
criteria provided, single submitterVCV000099570
71.
GRCh37:
Chr11:88911696
GRCh38:
Chr11:89178528
TYRS192YOculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism,
not specified, Skin/hair/eye pigmentation, variation in, 3
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000003778
72.
GRCh37:
Chr11:88911701
GRCh38:
Chr11:89178533
TYRI194fsTyrosinase-negative oculocutaneous albinismLikely pathogenic
(Nov 1, 2013)
no assertion criteria providedVCV000212705
73.
GRCh37:
Chr11:88911706
GRCh38:
Chr11:89178538
TYRW195*Nonsyndromic Oculocutaneous AlbinismLikely pathogenic
(Mar 7, 2017)
no assertion criteria providedVCV000617796
74.
GRCh37:
Chr11:88911734
GRCh38:
Chr11:89178566
TYRP205TTyrosinase-negative oculocutaneous albinism, not providedPathogenic
(Aug 18, 2016)
criteria provided, single submitterVCV000099572
75.
GRCh37:
Chr11:88911737
GRCh38:
Chr11:89178569
TYRA206Tnot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jun 11, 2015)
criteria provided, single submitterVCV000003791
76.
GRCh37:
Chr11:88911756
GRCh38:
Chr11:89178588
TYRR212KTyrosinase-negative oculocutaneous albinismLikely pathogenic
(Mar 31, 2017)
criteria provided, single submitterVCV000437182
77.
GRCh37:
Chr11:88911767
GRCh38:
Chr11:89178599
TYRL216MTyrosinase-negative oculocutaneous albinism, not providedPathogenic
(Jan 1, 1993)
no assertion criteria providedVCV000003806
78.
GRCh37:
Chr11:88911770
GRCh38:
Chr11:89178602
TYRR217fsnot providednot providedno assertion providedVCV000099574
79.
GRCh37:
Chr11:88911770
GRCh38:
Chr11:89178602
TYRR217Gnot providednot providedno assertion providedVCV000099573
80.
GRCh37:
Chr11:88911770
GRCh38:
Chr11:89178602
TYRR217WNonsyndromic Oculocutaneous Albinism, Oculocutaneous albinism type 1B, Albinism, ocular, with sensorineural deafness,
Skin/hair/eye pigmentation, variation in, 3, Tyrosinase-negative oculocutaneous albinism, not provided,
Tyrosinase-negative oculocutaneous albinism
Likely pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000003795
81.
GRCh37:
Chr11:88911771
GRCh38:
Chr11:89178603
TYRR217QOculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism
Pathogenic/Likely pathogenic
(Apr 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000099575
82.
GRCh37:
Chr11:88911776
GRCh38:
Chr11:89178608
TYRE219Knot providedPathogenic
(Oct 31, 2017)
criteria provided, single submitterVCV000449543
83.
GRCh37:
Chr11:88911779
GRCh38:
Chr11:89178611
TYRQ220*not provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Mar 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000212523
84.
GRCh37:
Chr11:88911782
GRCh38:
Chr11:89178614
TYRE221KTyrosinase-negative oculocutaneous albinismPathogenic
(May 15, 2015)
criteria provided, single submitterVCV000212524
85.
GRCh37:
Chr11:88911786
GRCh38:
Chr11:89178618
TYRI222Tnot providedUncertain significance
(Jan 5, 2017)
criteria provided, single submitterVCV000499705
86.
GRCh37:
Chr11:88911799-88911801
GRCh38:
Chr11:89178631-89178633
TYRG227delnot providednot providedno assertion providedVCV000099576
87.
GRCh37:
Chr11:88911826
GRCh38:
Chr11:89178658
TYRY235*Oculocutaneous albinismUncertain significance
(Nov 24, 2018)
criteria provided, single submitterVCV000631668
88.
GRCh37:
Chr11:88911828
GRCh38:
Chr11:89178660
TYRW236Snot providednot providedno assertion providedVCV000099577
89.
GRCh37:
Chr11:88911828
GRCh38:
Chr11:89178660
TYRW236*Tyrosinase-negative oculocutaneous albinism, not providedPathogenic
(Jan 1, 1993)
no assertion criteria providedVCV000003805
90.
GRCh37:
Chr11:88911835
GRCh38:
Chr11:89178667
TYRW238*Tyrosinase-negative oculocutaneous albinismPathogenic
(Apr 26, 2017)
criteria provided, single submitterVCV000620587
91.
GRCh37:
Chr11:88911853-88911854
GRCh38:
Chr11:89178685-89178686
TYRnot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Jul 17, 2017)
criteria provided, multiple submitters, no conflictsVCV000003787
92.
GRCh37:
Chr11:88911860
GRCh38:
Chr11:89178692
TYRC247ROculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism
Likely pathogenic
(Mar 30, 2016)
criteria provided, single submitterVCV000144106
93.
GRCh37:
Chr11:88911874
GRCh38:
Chr11:89178706
TYRY251*Tyrosinase-negative oculocutaneous albinismPathogenic
(Mar 15, 2016)
criteria provided, single submitterVCV000437175
94.
GRCh37:
Chr11:88911878
GRCh38:
Chr11:89178710
TYRG253Rnot providednot providedno assertion providedVCV000099579
95.
GRCh37:
Chr11:88911880
GRCh38:
Chr11:89178712
TYRnot providedUncertain significance
(Dec 4, 2015)
criteria provided, single submitterVCV000284407
96.
GRCh37:
Chr11:88911887
GRCh38:
Chr11:89178719
TYRH256Ynot providednot providedno assertion providedVCV000099580
97.
GRCh37:
Chr11:88911927-88911929
GRCh38:
Chr11:89178759-89178761
TYRF269delnot providedLikely pathogenic
(Dec 22, 2016)
criteria provided, single submitterVCV000422828
98.
GRCh37:
Chr11:88911937
GRCh38:
Chr11:89178769
TYRW272Cnot providednot providedno assertion providedVCV000099581
99.
GRCh37:
Chr11:88911941-89017940
GRCh38:
Chr11:89178773-89284772
TYRTyrosinase-negative oculocutaneous albinismPathogenic
(Mar 26, 2019)
no assertion criteria providedVCV000627598
100.
GRCh37:
Chr11:88924367
GRCh38:
Chr11:89191199
TYRnot provided, Tyrosinase-negative oculocutaneous albinismPathogenic
(Apr 20, 2015)
criteria provided, single submitterVCV000099582
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