OCA2 (OCA2 melanosomal transmembrane protein) - Rat Genome Database

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Gene: OCA2 (OCA2 melanosomal transmembrane protein) Homo sapiens
Analyze
Symbol: OCA2
Name: OCA2 melanosomal transmembrane protein
RGD ID: 1352949
HGNC Page HGNC:8101
Description: Enables intracellular chloride channel activity. Involved in lysosomal lumen pH elevation and melanin biosynthetic process from tyrosine. Located in bounding membrane of organelle and endoplasmic reticulum membrane. Implicated in actinic keratosis; oculocutaneous albinism type II; pigmentation disease; skin cancer (multiple); and squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; eye color 2 (central brown); eye color 3 (brown); hair color 3 (brown); HCL3; melanocyte-specific transporter protein; oculocutaneous albinism II (pink-eye dilution homolog, mouse); P; P-protein; PED; pink-eyed dilution protein homolog; SHEP1; total brown iris pigmentation
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381527,719,008 - 28,099,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1527,754,875 - 28,099,315 (-)EnsemblGRCh38hg38GRCh38
GRCh371528,000,021 - 28,344,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361525,673,616 - 26,018,053 (-)NCBINCBI36Build 36hg18NCBI36
Build 341525,673,627 - 26,018,061NCBI
Celera156,159,864 - 6,486,885 (-)NCBICelera
Cytogenetic Map15q12-q13.1NCBI
HuRef156,126,617 - 6,454,008 (-)NCBIHuRef
CHM1_11527,949,611 - 28,294,279 (-)NCBICHM1_1
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal eating behavior  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal temper tantrums  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of vision  (IAGP)
Absent skin pigmentation  (IAGP)
Absent speech  (IAGP)
Albinism  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Blue irides  (IAGP)
Broad-based gait  (IAGP)
Bulimia  (IAGP)
Central adrenal insufficiency  (IAGP)
Central apnea  (IAGP)
Central hypothyroidism  (IAGP)
Cessation of head growth  (IAGP)
Clitoral hypoplasia  (IAGP)
Congenital nystagmus  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased circulating gonadotropin concentration  (IAGP)
Decreased circulating T4 concentration  (IAGP)
Decreased fetal movement  (IAGP)
Decreased inhibin B level  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed myelination  (IAGP)
Delayed puberty  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Downturned corners of mouth  (IAGP)
Drooling  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
EEG with abnormally slow frequencies  (IAGP)
Exotropia  (IAGP)
External genital hypoplasia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat occiput  (IAGP)
Freckles in sun-exposed areas  (IAGP)
Freckling  (IAGP)
Functional motor deficit  (IAGP)
Gait imbalance  (IAGP)
Gastroparesis  (IAGP)
Global developmental delay  (IAGP)
Happy demeanor  (IAGP)
Heat intolerance  (IAGP)
Heterochromia iridis  (IAGP)
Hip dysplasia  (IAGP)
Hyperactivity  (IAGP)
Hyperpigmented nevi  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the fundus  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypotonia  (IAGP)
Impaired temperature sensation  (IAGP)
Inappropriate laughter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infertility  (IAGP)
Intellectual disability, borderline  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Iris hypopigmentation  (IAGP)
Iris transillumination defect  (IAGP)
Limitation of movement at ankles  (IAGP)
Lower limb hyperreflexia  (IAGP)
Macular hypopigmentation  (IAGP)
Mandibular prognathia  (IAGP)
Mild microcephaly  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive trait  (IAGP)
Obstructive sleep apnea  (IAGP)
Occipital cortical atrophy  (IAGP)
Optic nerve misrouting  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Parietal cortical atrophy  (IAGP)
Pedal edema  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Photophobia  (IAGP)
Polyphagia  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Posterior staphyloma  (IAGP)
Postterm pregnancy  (IAGP)
Precocious puberty  (IAGP)
Premature adrenarche  (IAGP)
Premature pubarche  (IAGP)
Primary amenorrhea  (IAGP)
Protruding tongue  (IAGP)
Psychosis  (IAGP)
Recurrent hand flapping  (IAGP)
Recurrent respiratory infections  (IAGP)
Red hair  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory tract infection  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short attention span  (IAGP)
Short foot  (IAGP)
Short stature  (IAGP)
Shortened sleep phase  (IAGP)
Skin-picking  (IAGP)
Sleep abnormality  (IAGP)
Small for gestational age  (IAGP)
Small hand  (IAGP)
Small scrotum  (IAGP)
Specific learning disability  (IAGP)
Speech articulation difficulties  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Strabismus  (IAGP)
Thin upper lip vermilion  (IAGP)
Tongue thrusting  (IAGP)
Tremor  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
White eyebrow  (IAGP)
White eyelashes  (IAGP)
White hair  (IAGP)
Wide mouth  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Duffy DL, etal., J Invest Dermatol. 2010 Feb;130(2):520-8. doi: 10.1038/jid.2009.258. Epub 2009 Aug 27.
2. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Durham-Pierre D, etal., Nat Genet. 1994 Jun;7(2):176-9.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Han J, etal., Cancer Res. 2011 Mar 1;71(5):1533-9. doi: 10.1158/0008-5472.CAN-10-1818. Epub 2011 Jan 26.
5. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Jannot AS, etal., Eur J Hum Genet. 2005 Aug;13(8):913-20.
6. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. Jaworek TJ, etal., Orphanet J Rare Dis. 2012 Jun 26;7:44. doi: 10.1186/1750-1172-7-44.
7. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. Johanson HC, etal., J Hum Genet. 2010 Feb;55(2):103-11. doi: 10.1038/jhg.2009.130. Epub 2009 Dec 18.
8. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Manga P, etal., Am J Hum Genet. 2001 Mar;68(3):782-7. Epub 2001 Feb 9.
9. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Nan H, etal., Int J Cancer. 2009 Aug 15;125(4):909-17. doi: 10.1002/ijc.24327.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Yi Z, etal., Am J Hum Genet. 2003 Jan;72(1):62-72. Epub 2002 Dec 5.
15. Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations. Yoshizawa J, etal., J Dermatol. 2014 Apr;41(4):296-302. doi: 10.1111/1346-8138.12432. Epub 2014 Mar 12.
Additional References at PubMed
PMID:1415228   PMID:1509264   PMID:1773534   PMID:7601462   PMID:7762554   PMID:7874125   PMID:8302318   PMID:8421497   PMID:8875191   PMID:9259203   PMID:10094567   PMID:10649493  
PMID:10671067   PMID:10987646   PMID:11310796   PMID:11601658   PMID:12028586   PMID:12163334   PMID:12477932   PMID:12579416   PMID:12713581   PMID:12727022   PMID:12817591   PMID:12876664  
PMID:15262401   PMID:15489334   PMID:15712365   PMID:16417222   PMID:16453125   PMID:17236130   PMID:17568986   PMID:17570052   PMID:17619204   PMID:17767372   PMID:17952075   PMID:17960121  
PMID:18093281   PMID:18252221   PMID:18252222   PMID:18326704   PMID:18463683   PMID:18483556   PMID:18528436   PMID:18563784   PMID:18636124   PMID:18650849   PMID:18676680   PMID:18680187  
PMID:18683857   PMID:18839200   PMID:19060277   PMID:19116314   PMID:19170196   PMID:19208107   PMID:19320733   PMID:19340012   PMID:19382693   PMID:19472299   PMID:19625176   PMID:19626598  
PMID:19692168   PMID:19772629   PMID:19865097   PMID:19913121   PMID:20221248   PMID:20301410   PMID:20308648   PMID:20379614   PMID:20457063   PMID:20585627   PMID:20601102   PMID:20628086  
PMID:20629734   PMID:20801516   PMID:20806075   PMID:20861488   PMID:20944644   PMID:21085994   PMID:21541274   PMID:21712187   PMID:21873635   PMID:21979861   PMID:22042571   PMID:22133426  
PMID:22561518   PMID:22645275   PMID:23063908   PMID:23103111   PMID:23118974   PMID:23165166   PMID:23548203   PMID:23601698   PMID:23824587   PMID:24023788   PMID:24096233   PMID:24361966  
PMID:24387780   PMID:25119903   PMID:25455140   PMID:25469862   PMID:25513726   PMID:25809079   PMID:25919014   PMID:26744415   PMID:28081795   PMID:28456133   PMID:28514442   PMID:31345173  
PMID:31813138   PMID:32963319   PMID:32966160   PMID:32966289   PMID:33800529   PMID:33961781   PMID:33974259   PMID:34155719   PMID:34246199   PMID:34795370   PMID:35328057   PMID:36059514  
PMID:37053367   PMID:37294081   PMID:37882226  


Genomics

Comparative Map Data
OCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381527,719,008 - 28,099,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1527,754,875 - 28,099,315 (-)EnsemblGRCh38hg38GRCh38
GRCh371528,000,021 - 28,344,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361525,673,616 - 26,018,053 (-)NCBINCBI36Build 36hg18NCBI36
Build 341525,673,627 - 26,018,061NCBI
Celera156,159,864 - 6,486,885 (-)NCBICelera
Cytogenetic Map15q12-q13.1NCBI
HuRef156,126,617 - 6,454,008 (-)NCBIHuRef
CHM1_11527,949,611 - 28,294,279 (-)NCBICHM1_1
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBIT2T-CHM13v2.0
Oca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39755,889,341 - 56,186,266 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl755,889,508 - 56,186,266 (+)EnsemblGRCm39 Ensembl
GRCm38756,239,593 - 56,536,518 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl756,239,760 - 56,536,518 (+)EnsemblGRCm38mm10GRCm38
MGSCv37763,495,141 - 63,791,887 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36756,107,790 - 56,404,536 (+)NCBIMGSCv36mm8
Celera753,578,935 - 53,870,549 (+)NCBICelera
Cytogenetic Map7B5NCBI
cM Map733.44NCBI
Oca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81116,252,026 - 116,581,838 (+)NCBIGRCr8
mRatBN7.21107,116,278 - 107,446,093 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1107,116,278 - 107,446,074 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1112,507,382 - 112,829,919 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01120,979,244 - 121,301,798 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01114,228,212 - 114,550,755 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01114,661,970 - 114,987,433 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1114,679,537 - 114,987,433 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01115,720,909 - 115,991,040 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01115,683,593 - 115,683,857 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1101,324,224 - 101,633,838 (+)NCBICelera
Cytogenetic Map1q22NCBI
Oca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555331,522,795 - 1,797,116 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555331,522,878 - 1,796,673 (+)NCBIChiLan1.0ChiLan1.0
OCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2167,182,788 - 7,564,648 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11510,824,412 - 11,169,708 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0151,811,728 - 2,192,018 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11525,181,417 - 25,523,703 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1525,181,386 - 25,523,774 (-)Ensemblpanpan1.1panPan2
OCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1332,361,825 - 32,713,631 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl332,361,517 - 32,713,572 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha334,967,334 - 35,404,320 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0332,621,251 - 33,055,320 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl332,621,221 - 33,055,306 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1332,155,153 - 32,595,979 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0332,404,163 - 32,842,419 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0332,515,314 - 32,948,430 (+)NCBIUU_Cfam_GSD_1.0
Oca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640120,764,374 - 121,104,104 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647138,612,427 - 38,952,199 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647138,612,450 - 38,952,150 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OCA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1556,657,616 - 56,869,918 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11556,657,648 - 56,869,920 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215156,879,489 - 156,880,169 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21563,929,054 - 64,060,069 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12654,022,346 - 54,429,991 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2654,039,197 - 54,352,774 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605436,822,407 - 37,218,415 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Oca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248962,163,468 - 2,415,432 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248962,163,043 - 2,432,016 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OCA2
809 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755085]|not provided [RCV000520462] Chr15:27990617 [GRCh38]
Chr15:28235763 [GRCh37]
Chr15:15q13.1
likely pathogenic
Single allele deletion Prader-Willi syndrome [RCV000520873] Chr15:23707435..28520316 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
nsv1197574 deletion Tyrosinase-positive oculocutaneous albinism [RCV000023893] Chr15:27874792..28058639 [GRCh38]
Chr15:28119938..28303785 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA deletion Brown oculocutaneous albinism [RCV000001003]|Tyrosinase-positive oculocutaneous albinism [RCV000001002] Chr15:28018397..28018557 [GRCh38]
Chr15:28263543..28263703 [GRCh37]
Chr15:15q13.1
pathogenic
OCA2, IVS1, HAPLOTYPE 1 variation Skin/hair/eye pigmentation, variation in, 1 [RCV000001015] Chr15:15q11.2-q12 pathogenic|association|affects
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1842+1G>T single nucleotide variant Oculocutaneous albinism [RCV003323345]|Tyrosinase-positive oculocutaneous albinism [RCV000001004]|not provided [RCV001851521] Chr15:27955157 [GRCh38]
Chr15:28200303 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000001005]|not provided [RCV000487934]|not specified [RCV000251919] Chr15:27983407 [GRCh38]
Chr15:28228553 [GRCh37]
Chr15:15q13.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) single nucleotide variant Inborn genetic diseases [RCV000623104]|OCA2-related condition [RCV003415611]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466772]|See cases [RCV002251850]|Tyrosinase-positive oculocutaneous albinism [RCV000001006]|Tyrosinase-positive oculocutaneous albinism [RCV000477815]|not provided [RCV000310636] Chr15:27985101 [GRCh38]
Chr15:28230247 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755092]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003460401]|Tyrosinase-positive oculocutaneous albinism [RCV000001007]|Tyrosinase-positive oculocutaneous albinism [RCV000762938]|not provided [RCV000481371] Chr15:27871170 [GRCh38]
Chr15:28116316 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1960del (p.Ala654fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV000001008] Chr15:27926246 [GRCh38]
Chr15:28171392 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466773]|Tyrosinase-positive oculocutaneous albinism [RCV000001009]|not provided [RCV001851522] Chr15:28014819 [GRCh38]
Chr15:28259965 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NG_009846.1:g.103171_225796del deletion Tyrosinase-positive oculocutaneous albinism [RCV000001010] Chr15:27878517..28001142 [GRCh38]
Chr15:28123663..28246288 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) single nucleotide variant Oculocutaneous albinism [RCV003317027]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV001262139]|Tyrosinase-positive oculocutaneous albinism [RCV000001011]|not provided [RCV001093225] Chr15:27926169 [GRCh38]
Chr15:28171315 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) single nucleotide variant OCA2-related condition [RCV003421891]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466774]|Tyrosinase-positive oculocutaneous albinism [RCV000001012]|Tyrosinase-positive oculocutaneous albinism [RCV000762940]|not provided [RCV000413429] Chr15:27983383 [GRCh38]
Chr15:28228529 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000001013]|Tyrosinase-positive oculocutaneous albinism [RCV000312067]|Tyrosinase-positive oculocutaneous albinism [RCV002490287]|not provided [RCV001522992]|not specified [RCV000180482] Chr15:28014907 [GRCh38]
Chr15:28260053 [GRCh37]
Chr15:15q13.1
pathogenic|association|affects|benign|likely benign
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000001014]|Tyrosinase-positive oculocutaneous albinism [RCV000397427]|not provided [RCV001521859]|not specified [RCV000252408] Chr15:27985172 [GRCh38]
Chr15:28230318 [GRCh37]
Chr15:15q13.1
pathogenic|association|affects|benign|likely benign
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000001016] Chr15:27989601 [GRCh38]
Chr15:28234747 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.2(OCA2):c.2245-4000T>G single nucleotide variant Lung cancer [RCV000099398] Chr15:27855475 [GRCh38]
Chr15:28100621 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.2(OCA2):c.1636+4029G>T single nucleotide variant Lung cancer [RCV000099399] Chr15:27962661 [GRCh38]
Chr15:28207807 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.2(OCA2):c.228-5876G>C single nucleotide variant Lung cancer [RCV000099400] Chr15:28038039 [GRCh38]
Chr15:28283185 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.2(OCA2):c.227+15479G>C single nucleotide variant Lung cancer [RCV000099401] Chr15:28066169 [GRCh38]
Chr15:28311315 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 copy number loss See cases [RCV000050850] Chr15:23411789..28314256 [GRCh38]
Chr15:23656936..28557186 [GRCh37]
Chr15:21208377..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000050557] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000050559] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000050742] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000050733] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 copy number loss See cases [RCV000051583] Chr15:25161216..28190742 [GRCh38]
Chr15:25406363..28435888 [GRCh37]
Chr15:22957456..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 copy number gain See cases [RCV000051112] Chr15:23319714..32607357 [GRCh38]
Chr15:22698522..32899558 [GRCh37]
Chr15:20249886..30686850 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000051053] Chr15:23319714..28314256 [GRCh38]
Chr15:23300238..28557186 [GRCh37]
Chr15:20851679..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 copy number gain See cases [RCV000051813] Chr15:23319714..28681287 [GRCh38]
Chr15:23510051..28926433 [GRCh37]
Chr15:21061492..26725474 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 copy number gain See cases [RCV000051814] Chr15:23320410..28460005 [GRCh38]
Chr15:23565551..28812483 [GRCh37]
Chr15:21116992..26611524 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 copy number gain See cases [RCV000051816] Chr15:23411589..28446455 [GRCh38]
Chr15:23656736..28691601 [GRCh37]
Chr15:21208177..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 copy number gain See cases [RCV000051818] Chr15:23411789..28281294 [GRCh38]
Chr15:23656936..28526440 [GRCh37]
Chr15:21208377..26200035 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] Chr15:24780911..29668996 [GRCh38]
Chr15:25026058..29961200 [GRCh37]
Chr15:22577151..27748492 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 copy number loss See cases [RCV000052353] Chr15:23319714..30109283 [GRCh38]
Chr15:22669052..30401486 [GRCh37]
Chr15:20220416..28188778 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 copy number loss See cases [RCV000052355] Chr15:23319714..28275308 [GRCh38]
Chr15:22698322..28520454 [GRCh37]
Chr15:20249686..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000052356] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000052357] Chr15:23319714..28275167 [GRCh38]
Chr15:22698522..28520313 [GRCh37]
Chr15:20249886..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 copy number loss See cases [RCV000052358] Chr15:23319714..28197267 [GRCh38]
Chr15:22779922..28442413 [GRCh37]
Chr15:20331286..26116008 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] Chr15:23411789..28446314 [GRCh38]
Chr15:23656936..28691460 [GRCh37]
Chr15:21208377..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 copy number loss See cases [RCV000052402] Chr15:23450287..28446314 [GRCh38]
Chr15:23695434..28691460 [GRCh37]
Chr15:21246527..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 copy number loss See cases [RCV000052403] Chr15:23462105..28275308 [GRCh38]
Chr15:23707252..28520454 [GRCh37]
Chr15:21258345..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 copy number loss See cases [RCV000052406] Chr15:23462305..28190742 [GRCh38]
Chr15:23707452..28435888 [GRCh37]
Chr15:21258545..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 copy number loss See cases [RCV000052409] Chr15:23494211..28281294 [GRCh38]
Chr15:23739358..28526440 [GRCh37]
Chr15:21290451..26200035 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 copy number loss See cases [RCV000052410] Chr15:23537429..28269468 [GRCh38]
Chr15:23782576..28514614 [GRCh37]
Chr15:21333669..26188209 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 copy number loss See cases [RCV000052411] Chr15:23537429..28275167 [GRCh38]
Chr15:23782576..28520313 [GRCh37]
Chr15:21333669..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 copy number loss See cases [RCV000052372] Chr15:23337069..28272443 [GRCh38]
Chr15:23582216..28517589 [GRCh37]
Chr15:21133657..26191184 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 copy number loss See cases [RCV000052374] Chr15:23375083..28197267 [GRCh38]
Chr15:23620230..28442413 [GRCh37]
Chr15:21171671..26116008 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 copy number loss See cases [RCV000052376] Chr15:23375083..28272443 [GRCh38]
Chr15:23620230..28517589 [GRCh37]
Chr15:21171671..26191184 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 copy number gain See cases [RCV000052349] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 copy number gain See cases [RCV000052378] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 copy number loss See cases [RCV000052379] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 copy number loss See cases [RCV000052380] Chr15:23398620..28446314 [GRCh38]
Chr15:23643767..28691460 [GRCh37]
Chr15:21195208..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 copy number loss See cases [RCV000052381] Chr15:23411589..28275308 [GRCh38]
Chr15:23656736..28520454 [GRCh37]
Chr15:21208177..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 copy number loss See cases [RCV000052350] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 copy number gain See cases [RCV000053208] Chr15:23319714..32607498 [GRCh38]
Chr15:22698322..32899699 [GRCh37]
Chr15:20249686..30686991 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] Chr15:23319714..30527306 [GRCh38]
Chr15:22698522..30819509 [GRCh37]
Chr15:20249886..28606801 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000053232] Chr15:23319714..28275167 [GRCh38]
Chr15:22765628..28520313 [GRCh37]
Chr15:20316992..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053233] Chr15:23319714..30073921 [GRCh38]
Chr15:22863854..30366124 [GRCh37]
Chr15:20415295..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 copy number gain See cases [RCV000053234] Chr15:23319714..28446455 [GRCh38]
Chr15:23300038..28691601 [GRCh37]
Chr15:20851479..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] Chr15:23319714..28275308 [GRCh38]
Chr15:23300038..28520454 [GRCh37]
Chr15:20851479..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000989278]|not provided [RCV001519287]|not specified [RCV000173666] Chr15:27990579 [GRCh38]
Chr15:28235725 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1752C>T (p.His584=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000369482]|not provided [RCV000971615]|not specified [RCV000174995] Chr15:27957620 [GRCh38]
Chr15:28202766 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1183-4A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000297280]|not provided [RCV001520081]|not specified [RCV000174232] Chr15:27986647 [GRCh38]
Chr15:28231793 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+18A>G single nucleotide variant not provided [RCV001511844]|not specified [RCV000176151] Chr15:27871136 [GRCh38]
Chr15:28116282 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000305128]|Tyrosinase-positive oculocutaneous albinism [RCV002500486]|not provided [RCV001522990]|not specified [RCV000176255] Chr15:27851392 [GRCh38]
Chr15:28096538 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.867del (p.Ser289fs) deletion not provided [RCV000180124] Chr15:28016127 [GRCh38]
Chr15:28261273 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) indel OCA2-related condition [RCV003398903]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468873]|Tyrosinase-positive oculocutaneous albinism [RCV000180125]|not provided [RCV000486337] Chr15:28016172..28016175 [GRCh38]
Chr15:28261318..28261321 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1045-9T>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468853]|Tyrosinase-positive oculocutaneous albinism [RCV003128232]|not provided [RCV000173665]|not specified [RCV003150966] Chr15:27990656 [GRCh38]
Chr15:28235802 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) single nucleotide variant Inborn genetic diseases [RCV002516597]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462273]|Tyrosinase-positive oculocutaneous albinism [RCV000709815]|not provided [RCV000442309] Chr15:27990589 [GRCh38]
Chr15:28235735 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000502815]|not provided [RCV000174230] Chr15:27986643 [GRCh38]
Chr15:28231789 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1239+5G>C single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462277]|Tyrosinase-positive oculocutaneous albinism [RCV000763954]|Tyrosinase-positive oculocutaneous albinism [RCV001797659]|not provided [RCV000724356]|not specified [RCV001818417] Chr15:27986582 [GRCh38]
Chr15:28231728 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) single nucleotide variant Inborn genetic diseases [RCV003242997]|not provided [RCV000174233] Chr15:27986600 [GRCh38]
Chr15:28231746 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462278]|Tyrosinase-positive oculocutaneous albinism [RCV001121675]|not provided [RCV000174460] Chr15:27985173 [GRCh38]
Chr15:28230319 [GRCh37]
Chr15:15q13.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 copy number gain See cases [RCV000053224] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053230] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 copy number loss See cases [RCV000134719] Chr15:23462288..28694922 [GRCh38]
Chr15:23707435..28940068 [GRCh37]
Chr15:21258528..26739109 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q12-13.1(chr15:27743987-28275167)x3 copy number gain See cases [RCV000134166] Chr15:27743987..28275167 [GRCh38]
Chr15:27989133..28520313 [GRCh37]
Chr15:25662728..26193908 [NCBI36]
Chr15:15q12-13.1
likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 copy number loss See cases [RCV000134437] Chr15:23439508..28154050 [GRCh38]
Chr15:23684655..28399196 [GRCh37]
Chr15:21236096..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 copy number loss See cases [RCV000134053] Chr15:23462288..28275170 [GRCh38]
Chr15:23707435..28520316 [GRCh37]
Chr15:21258528..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 copy number gain See cases [RCV000134062] Chr15:23319714..28275170 [GRCh38]
Chr15:22765637..28520316 [GRCh37]
Chr15:20317001..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 copy number loss See cases [RCV000134074] Chr15:23319714..28347620 [GRCh38]
Chr15:23353638..28592766 [GRCh37]
Chr15:20905079..26266361 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 copy number loss See cases [RCV000134115] Chr15:23462288..28314291 [GRCh38]
Chr15:23707435..28557186 [GRCh37]
Chr15:21258528..26233032 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 copy number loss See cases [RCV000135313] Chr15:23328044..28154050 [GRCh38]
Chr15:22860857..28399196 [GRCh37]
Chr15:20412298..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 copy number loss See cases [RCV000134776] Chr15:23410917..28275170 [GRCh38]
Chr15:23656064..28520316 [GRCh37]
Chr15:21207505..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 copy number gain See cases [RCV000135743] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000135745] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000135860] Chr15:23319714..28314256 [GRCh38]
Chr15:22698522..28557186 [GRCh37]
Chr15:20249886..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q13.1(chr15:28131544-28195559)x1 copy number loss See cases [RCV000135489] Chr15:28131544..28195559 [GRCh37]
Chr15:25805139..25869154 [NCBI36]
Chr15:15q13.1
likely benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 copy number gain See cases [RCV000135505] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000135506] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 copy number gain See cases [RCV000135973] Chr15:23319714..30073876 [GRCh38]
Chr15:22765637..30366079 [GRCh37]
Chr15:20317001..28153371 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 copy number loss See cases [RCV000135892] Chr15:23462105..28290061 [GRCh38]
Chr15:23707252..28535207 [GRCh37]
Chr15:21258345..26208802 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 copy number gain See cases [RCV000137064] Chr15:23462305..28694952 [GRCh38]
Chr15:23707452..28940098 [GRCh37]
Chr15:21258545..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 copy number gain See cases [RCV000137099] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28557186 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 copy number loss See cases [RCV000136950] Chr15:23462305..28314256 [GRCh38]
Chr15:23707452..28557186 [GRCh37]
Chr15:21258545..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 copy number gain See cases [RCV000137100] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 copy number loss See cases [RCV000136811] Chr15:23319714..28280314 [GRCh38]
Chr15:22784523..28525460 [GRCh37]
Chr15:20335887..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 copy number loss See cases [RCV000136734] Chr15:23454554..28280314 [GRCh38]
Chr15:23699701..28525460 [GRCh37]
Chr15:21250794..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 copy number gain See cases [RCV000136752] Chr15:23411789..28280314 [GRCh38]
Chr15:23656936..28525460 [GRCh37]
Chr15:21208377..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 copy number gain See cases [RCV000137578] Chr15:23319714..30361733 [GRCh38]
Chr15:22765628..30653936 [GRCh37]
Chr15:20316992..28441228 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000137630] Chr15:23319714..30073921 [GRCh38]
Chr15:22765628..30366124 [GRCh37]
Chr15:20316992..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 copy number gain See cases [RCV000137393] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 copy number loss See cases [RCV000137394] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 copy number loss See cases [RCV000137270] Chr15:23523934..28280314 [GRCh38]
Chr15:23769081..28525460 [GRCh37]
Chr15:21320174..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 copy number loss See cases [RCV000137953] Chr15:23422864..28314256 [GRCh38]
Chr15:23668011..28557186 [GRCh37]
Chr15:21219452..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 copy number loss See cases [RCV000138857] Chr15:23462288..28446301 [GRCh38]
Chr15:23707435..28691447 [GRCh37]
Chr15:21258528..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 copy number loss See cases [RCV000139335] Chr15:23410917..28446301 [GRCh38]
Chr15:23656064..28691447 [GRCh37]
Chr15:21207505..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) single nucleotide variant Diarrhea [RCV001078137]|Inborn genetic diseases [RCV000624462]|Tyrosinase-positive oculocutaneous albinism [RCV001797661]|not provided [RCV000175395]|not specified [RCV001818421] Chr15:27926186 [GRCh38]
Chr15:28171332 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 copy number gain See cases [RCV000139162] Chr15:23319714..28446301 [GRCh38]
Chr15:23300254..28691447 [GRCh37]
Chr15:20851695..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 copy number gain See cases [RCV000139948] Chr15:23328044..28638603 [GRCh38]
Chr15:22652060..28883749 [GRCh37]
Chr15:20203424..26682790 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 copy number loss See cases [RCV000139980] Chr15:23370621..28289312 [GRCh38]
Chr15:23615768..28534458 [GRCh37]
Chr15:21167209..26208053 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 copy number loss See cases [RCV000139986] Chr15:23375044..28300209 [GRCh38]
Chr15:23620191..28545355 [GRCh37]
Chr15:21171632..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 copy number loss See cases [RCV000140454] Chr15:23328044..28578576 [GRCh38]
Chr15:22770421..28823722 [GRCh37]
Chr15:20321785..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 copy number loss See cases [RCV000139647] Chr15:23999707..28314256 [GRCh38]
Chr15:24244854..28557186 [GRCh37]
Chr15:21795947..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q12-13.1(chr15:27713721-28154050)x3 copy number gain See cases [RCV000141409] Chr15:27713721..28154050 [GRCh38]
Chr15:27958867..28399196 [GRCh37]
Chr15:25632462..26072791 [NCBI36]
Chr15:15q12-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000140712] Chr15:23319714..28446314 [GRCh38]
Chr15:22765628..28691460 [GRCh37]
Chr15:20316992..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q13.1(chr15:28066147-28076266)x3 copy number gain See cases [RCV000140615] Chr15:28066147..28076266 [GRCh38]
Chr15:28311293..28321412 [GRCh37]
Chr15:25984888..25995007 [NCBI36]
Chr15:15q13.1
likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 copy number loss See cases [RCV000140888] Chr15:23328044..28300209 [GRCh38]
Chr15:23286571..28545355 [GRCh37]
Chr15:20838012..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 copy number gain See cases [RCV000140622] Chr15:23328044..28154050 [GRCh38]
Chr15:23569415..28399196 [GRCh37]
Chr15:21120856..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 copy number loss See cases [RCV000141946] Chr15:23370621..28414765 [GRCh38]
Chr15:23615768..28659911 [GRCh37]
Chr15:21167209..26333506 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 copy number loss See cases [RCV000141728] Chr15:23370622..28414892 [GRCh38]
Chr15:23615769..28660038 [GRCh37]
Chr15:21167210..26333633 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 copy number loss See cases [RCV000141730] Chr15:23328044..28836775 [GRCh38]
Chr15:22770421..29081921 [GRCh37]
Chr15:20321785..26880962 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 copy number loss See cases [RCV000142069] Chr15:23328044..28315123 [GRCh38]
Chr15:22770421..28560269 [GRCh37]
Chr15:20321785..26233864 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 copy number loss See cases [RCV000142233] Chr15:23328044..28315951 [GRCh38]
Chr15:23290786..28561097 [GRCh37]
Chr15:20842227..26234692 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 copy number loss See cases [RCV000142103] Chr15:23328044..28464569 [GRCh38]
Chr15:22770421..28709715 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 copy number loss See cases [RCV000142234] Chr15:23370621..28578576 [GRCh38]
Chr15:23615768..28823722 [GRCh37]
Chr15:21167209..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 copy number loss See cases [RCV000142170] Chr15:23375044..28300358 [GRCh38]
Chr15:23620191..28545504 [GRCh37]
Chr15:21171632..26219099 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 copy number loss See cases [RCV000142132] Chr15:23328044..28300358 [GRCh38]
Chr15:23286571..28545504 [GRCh37]
Chr15:20838012..26219099 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 copy number loss See cases [RCV000142046] Chr15:23328044..30077815 [GRCh38]
Chr15:23276605..30370018 [GRCh37]
Chr15:20828046..28157310 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 copy number gain See cases [RCV000142854] Chr15:23398620..28280314 [GRCh38]
Chr15:23643767..28525460 [GRCh37]
Chr15:21195208..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000142766] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 copy number gain See cases [RCV000142791] Chr15:23319714..30527306 [GRCh38]
Chr15:22765628..30819509 [GRCh37]
Chr15:20316992..28606801 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 copy number gain See cases [RCV000143379] Chr15:23328044..30094350 [GRCh38]
Chr15:22770421..30386553 [GRCh37]
Chr15:20321785..28173845 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 copy number loss See cases [RCV000143443] Chr15:23370622..28389912 [GRCh38]
Chr15:23615769..28635058 [GRCh37]
Chr15:21167210..26308653 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 copy number loss See cases [RCV000143183] Chr15:23422864..28446314 [GRCh38]
Chr15:23668011..28691460 [GRCh37]
Chr15:21219452..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 copy number loss See cases [RCV000143185] Chr15:23422864..28460005 [GRCh38]
Chr15:23668011..28801348 [GRCh37]
Chr15:21219452..26600389 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 copy number gain See cases [RCV000143291] Chr15:23328044..28683584 [GRCh38]
Chr15:22770421..28928730 [GRCh37]
Chr15:20321785..26727771 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 copy number loss See cases [RCV000143226] Chr15:23328044..30023809 [GRCh38]
Chr15:22770422..30316012 [GRCh37]
Chr15:20321786..28103304 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 copy number loss See cases [RCV000143702] Chr15:23328044..28294829 [GRCh38]
Chr15:22770421..28539975 [GRCh37]
Chr15:20321785..26213570 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 copy number loss See cases [RCV000143744] Chr15:23370622..28300209 [GRCh38]
Chr15:23615769..28545355 [GRCh37]
Chr15:21167210..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000148062] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 copy number gain See cases [RCV000143666] Chr15:23444168..28277347 [GRCh38]
Chr15:23689315..28522493 [GRCh37]
Chr15:21240408..26196088 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000148063] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 copy number gain See cases [RCV000143479] Chr15:23328044..28713633 [GRCh38]
Chr15:22770421..28958779 [GRCh37]
Chr15:20321785..26757820 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 copy number loss See cases [RCV000143483] Chr15:23328044..28478308 [GRCh38]
Chr15:22770421..28723454 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.45G>A (p.Pro15=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001797662]|not provided [RCV000175573] Chr15:28081830 [GRCh38]
Chr15:28326976 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000148195] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000148164] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000148194] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) single nucleotide variant OCA2-related condition [RCV003407649]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468858]|Tyrosinase-positive oculocutaneous albinism [RCV000192656]|not provided [RCV000724171]|not specified [RCV000176150] Chr15:27871191 [GRCh38]
Chr15:28116337 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2273A>G (p.Asp758Gly) single nucleotide variant not provided [RCV000176256] Chr15:27851447 [GRCh38]
Chr15:28096593 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118037]|not provided [RCV000176257] Chr15:27851427 [GRCh38]
Chr15:28096573 [GRCh37]
Chr15:15q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) single nucleotide variant OCA2-related condition [RCV003417701]|Tyrosinase-positive oculocutaneous albinism [RCV001797675]|not provided [RCV000732449]|not specified [RCV000192434] Chr15:27989630 [GRCh38]
Chr15:28234776 [GRCh37]
Chr15:15q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468869]|Tyrosinase-positive oculocutaneous albinism [RCV000604129]|not provided [RCV000179280] Chr15:28022554 [GRCh38]
Chr15:28267700 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468870]|Tyrosinase-positive oculocutaneous albinism [RCV001797665]|not provided [RCV000179281] Chr15:28022515 [GRCh38]
Chr15:28267661 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468871]|Tyrosinase-positive oculocutaneous albinism [RCV001118260]|Tyrosinase-positive oculocutaneous albinism [RCV002478597]|not provided [RCV000179741] Chr15:28018477 [GRCh38]
Chr15:28263623 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) single nucleotide variant not provided [RCV000180483] Chr15:28014805 [GRCh38]
Chr15:28259951 [GRCh37]
Chr15:15q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) single nucleotide variant OCA2-related condition [RCV003416081]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468859]|Tyrosinase-positive oculocutaneous albinism [RCV000504183]|not provided [RCV000176361] Chr15:27844966 [GRCh38]
Chr15:28090112 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000192364] Chr15:27983421 [GRCh38]
Chr15:28228567 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.2(OCA2):c.647-?_890+?del deletion Tyrosinase-positive oculocutaneous albinism [RCV000192949]   pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755087]|OCA2-related condition [RCV003401054]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462301]|Tyrosinase-positive oculocutaneous albinism [RCV000193262]|not provided [RCV000413048] Chr15:27986615 [GRCh38]
Chr15:28231761 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1503+5G>A single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468884]|Tyrosinase-positive oculocutaneous albinism [RCV000193557]|Tyrosinase-positive oculocutaneous albinism [RCV000762939]|not provided [RCV000302408] Chr15:27983340 [GRCh38]
Chr15:28228486 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.2(OCA2):c.647-?_807+?del deletion Tyrosinase-positive oculocutaneous albinism [RCV000194719]   pathogenic|likely pathogenic
NC_000015.9:g.(?_23730704)_(28530182_?)del deletion Angelman syndrome [RCV000191153] Chr15:23730704..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468885]|Tyrosinase-positive oculocutaneous albinism [RCV000193498]|not provided [RCV001853098] Chr15:27845047 [GRCh38]
Chr15:28090193 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000194788] Chr15:27926194 [GRCh38]
Chr15:28171340 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
Single allele deletion Angelman syndrome [RCV001250750] Chr15:22833416..28566671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225563] Chr15:25334522..28369712 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225599] Chr15:23624148..28790734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Tyrosinase-positive oculocutaneous albinism [RCV000234789] Chr15:27952109..28031884 [GRCh38]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000234793] Chr15:27926237 [GRCh38]
Chr15:28171383 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1044+1G>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000234803] Chr15:28014775 [GRCh38]
Chr15:28259921 [GRCh37]
Chr15:15q13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 copy number gain See cases [RCV000511328] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_000275.3(OCA2):c.131del (p.Gly44fs) deletion Inborn genetic diseases [RCV000622436]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465356]|Tyrosinase-positive oculocutaneous albinism [RCV002282270]|not provided [RCV001860430] Chr15:28081744 [GRCh38]
Chr15:28326890 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) single nucleotide variant Inborn genetic diseases [RCV002519877]|OCA2-related condition [RCV003389640]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003469193]|Tyrosinase-positive oculocutaneous albinism [RCV001119694]|not provided [RCV000766763]|not specified [RCV000243597] Chr15:27985108 [GRCh38]
Chr15:28230254 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116801]|not provided [RCV000891115]|not specified [RCV000246099] Chr15:28014794 [GRCh38]
Chr15:28259940 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1887G>T (p.Val629=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121581]|not provided [RCV000891114]|not specified [RCV000248422] Chr15:27951848 [GRCh38]
Chr15:28196994 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1365-15C>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000384672]|not provided [RCV001522291]|not specified [RCV000248563] Chr15:27983498 [GRCh38]
Chr15:28228644 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 copy number loss See cases [RCV000240259] Chr15:22815306..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000356602]|not provided [RCV001522991]|not specified [RCV000246215] Chr15:27926148 [GRCh38]
Chr15:28171294 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128240]|not provided [RCV002055034]|not specified [RCV000251019] Chr15:27990645 [GRCh38]
Chr15:28235791 [GRCh37]
Chr15:15q13.1
likely pathogenic|likely benign
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119577]|not provided [RCV000968287]|not specified [RCV000251137] Chr15:27871233 [GRCh38]
Chr15:28116379 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.144G>A (p.Ser48=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000359561]|not provided [RCV001512158]|not specified [RCV000243919] Chr15:28081731 [GRCh38]
Chr15:28326877 [GRCh37]
Chr15:15q13.1
benign|likely benign|uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116803]|not provided [RCV000891116]|not specified [RCV000241894] Chr15:28014813 [GRCh38]
Chr15:28259959 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1952-16A>G single nucleotide variant not provided [RCV001519053]|not specified [RCV000254221] Chr15:27926270 [GRCh38]
Chr15:28171416 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3 copy number gain See cases [RCV000240575] Chr15:25583931..32418279 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000275.3(OCA2):c.999C>T (p.Ile333=) single nucleotide variant not provided [RCV002057333]|not specified [RCV000242109] Chr15:28014821 [GRCh38]
Chr15:28259967 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119575]|not provided [RCV000953542]|not specified [RCV000254514] Chr15:27871190 [GRCh38]
Chr15:28116336 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1117-17T>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001797695]|not provided [RCV001341989]|not specified [RCV000242468] Chr15:27989683 [GRCh38]
Chr15:28234829 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000401705]|not provided [RCV001514650]|not specified [RCV000242650] Chr15:27845027 [GRCh38]
Chr15:28090173 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000259507]|not provided [RCV001521179]|not specified [RCV000245098] Chr15:27951891 [GRCh38]
Chr15:28197037 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118258]|Tyrosinase-positive oculocutaneous albinism [RCV002500858]|not provided [RCV000948946]|not specified [RCV000247649] Chr15:28018408 [GRCh38]
Chr15:28263554 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000402284]|not provided [RCV001520082]|not specified [RCV000243007] Chr15:27990627 [GRCh38]
Chr15:28235773 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128241]|not provided [RCV001854952]|not specified [RCV000247981] Chr15:27990612 [GRCh38]
Chr15:28235758 [GRCh37]
Chr15:15q13.1
likely pathogenic|likely benign|uncertain significance
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000333850]|not provided [RCV001520080]|not specified [RCV000248067] Chr15:27966775 [GRCh38]
Chr15:28211921 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1842+17C>T single nucleotide variant not provided [RCV001519321]|not specified [RCV000253095] Chr15:27955141 [GRCh38]
Chr15:28200287 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000270433]|not provided [RCV001820933] Chr15:27983395 [GRCh38]
Chr15:28228541 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000274083] Chr15:27966773 [GRCh38]
Chr15:28211919 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000366803]|not provided [RCV000953694]|not specified [RCV000387183] Chr15:28018482 [GRCh38]
Chr15:28263628 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000264722]|not provided [RCV002520940] Chr15:28081790 [GRCh38]
Chr15:28326936 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) single nucleotide variant not provided [RCV000293261] Chr15:27926252 [GRCh38]
Chr15:28171398 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) single nucleotide variant not provided [RCV001518118]|not specified [RCV000302507] Chr15:28081838 [GRCh38]
Chr15:28326984 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.588A>C (p.Leu196=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000268924] Chr15:28022559 [GRCh38]
Chr15:28267705 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) copy number loss Angelman syndrome [RCV002280757] Chr15:23615768..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) copy number loss Angelman syndrome [RCV002280759] Chr15:23285775..30386399 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) copy number loss Angelman syndrome [RCV002280760] Chr15:22770421..29855014 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) copy number loss Angelman syndrome [RCV002280761] Chr15:23689315..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) copy number gain 15q11q13 microduplication syndrome [RCV003319585] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_000275.3(OCA2):c.941T>G (p.Val314Gly) single nucleotide variant not provided [RCV001547300] Chr15:28014879 [GRCh38]
Chr15:28260025 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2432+11A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000344849]|not provided [RCV001519726] Chr15:27844948 [GRCh38]
Chr15:28090094 [GRCh37]
Chr15:15q13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.594G>A (p.Pro198=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000363514]|not provided [RCV002520939] Chr15:28022553 [GRCh38]
Chr15:28267699 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.*300T>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000293082] Chr15:27755088 [GRCh38]
Chr15:28000234 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.666C>T (p.His222=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000401824]|not provided [RCV002056446] Chr15:28018538 [GRCh38]
Chr15:28263684 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.*50A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000384000] Chr15:27755338 [GRCh38]
Chr15:28000484 [GRCh37]
Chr15:15q12
benign|likely benign
NM_000275.3(OCA2):c.*166C>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000350393] Chr15:27755222 [GRCh38]
Chr15:28000368 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1504-12_1504-9del deletion Oculocutaneous albinism [RCV000388291] Chr15:27966831..27966834 [GRCh38]
Chr15:28211977..28211980 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2145C>G (p.Val715=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000390523]|not provided [RCV002056445] Chr15:27871253 [GRCh38]
Chr15:28116399 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.*21G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000287571] Chr15:27755367 [GRCh38]
Chr15:28000513 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1785-7C>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000298353]|not provided [RCV001452945] Chr15:27955222 [GRCh38]
Chr15:28200368 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.48G>A (p.Ala16=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000324522]|not provided [RCV002056447] Chr15:28081827 [GRCh38]
Chr15:28326973 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000339181] Chr15:27851398 [GRCh38]
Chr15:28096544 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000299479]|not provided [RCV001850668]|not specified [RCV003235189] Chr15:27871922 [GRCh38]
Chr15:28117068 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000325523] Chr15:27983478 [GRCh38]
Chr15:28228624 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000340647] Chr15:27985076 [GRCh38]
Chr15:28230222 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000341602]|not provided [RCV001850669] Chr15:27985125 [GRCh38]
Chr15:28230271 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000376573]|not provided [RCV000909108] Chr15:27985102 [GRCh38]
Chr15:28230248 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1364+4C>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000290205]|not provided [RCV002061174] Chr15:27985060 [GRCh38]
Chr15:28230206 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.648C>T (p.Ser216=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000313394] Chr15:28018556 [GRCh38]
Chr15:28263702 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.216C>G (p.Leu72=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000328135]|not provided [RCV001444413] Chr15:28081659 [GRCh38]
Chr15:28326805 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.-109T>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000379033] Chr15:28099311 [GRCh38]
Chr15:28344457 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.*1T>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116586]|not provided [RCV000592699] Chr15:27755387 [GRCh38]
Chr15:28000533 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) deletion OCA2-related condition [RCV003424163]|Tyrosinase-positive oculocutaneous albinism [RCV001797757]|not provided [RCV000592782] Chr15:27871217..27871221 [GRCh38]
Chr15:28116363..28116367 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755088]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459475]|Tyrosinase-positive oculocutaneous albinism [RCV001797758]|not provided [RCV000596631]|not specified [RCV003235306] Chr15:27985106 [GRCh38]
Chr15:28230252 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.440dup (p.Ser148fs) duplication not provided [RCV000414559] Chr15:28027945..28027946 [GRCh38]
Chr15:28273091..28273092 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) single nucleotide variant not provided [RCV000732984] Chr15:27951860 [GRCh38]
Chr15:28197006 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) single nucleotide variant Albinism [RCV000415383]|OCA2-related condition [RCV003401404]|Oculocutaneous albinism [RCV003155175]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470362]|Tyrosinase-positive oculocutaneous albinism [RCV001116802]|not provided [RCV001574644] Chr15:28014795 [GRCh38]
Chr15:28259941 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) deletion OCA2-related condition [RCV003418094]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463816]|Tyrosinase-positive oculocutaneous albinism [RCV001797713]|Tyrosinase-positive oculocutaneous albinism [RCV002480264]|not provided [RCV000413670] Chr15:28022511..28022528 [GRCh38]
Chr15:28267657..28267674 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000275.3(OCA2):c.1045-15T>G single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755082]|Tyrosinase-positive oculocutaneous albinism [RCV002250689]|not provided [RCV002536551] Chr15:27990662 [GRCh38]
Chr15:28235808 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1182+2dup duplication Nonsyndromic Oculocutaneous Albinism [RCV000755086] Chr15:27989598..27989599 [GRCh38]
Chr15:28234744..28234745 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1951+4A>G single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755091] Chr15:27951780 [GRCh38]
Chr15:28196926 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 copy number loss See cases [RCV000449342] Chr15:23620191..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 copy number loss See cases [RCV000449387] Chr15:23615768..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 copy number loss See cases [RCV000449305] Chr15:23620191..28357230 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 copy number gain See cases [RCV000449160] Chr15:23300138..29338429 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 copy number loss See cases [RCV000447304] Chr15:23290862..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 copy number gain See cases [RCV000446375] Chr15:23290862..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 copy number loss See cases [RCV000446271] Chr15:23615768..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 copy number loss See cases [RCV000447349] Chr15:23286571..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 copy number gain See cases [RCV000446525] Chr15:23487423..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 copy number gain See cases [RCV000447049] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 copy number loss See cases [RCV000446656] Chr15:23620191..28527734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 copy number loss See cases [RCV000447084] Chr15:23620191..28561232 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) single nucleotide variant Albinism [RCV000504873]|not provided [RCV003322778] Chr15:27957712 [GRCh38]
Chr15:28202858 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 copy number loss See cases [RCV000445807] Chr15:23282829..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000275.3(OCA2):c.646+1825_807+679del deletion Albinism [RCV000504643] Chr15:28017718..28020676 [GRCh38]
Chr15:28262864..28265822 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 copy number gain See cases [RCV000448177] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 copy number gain See cases [RCV000448566] Chr15:23290862..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 copy number loss See cases [RCV000448654] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 copy number loss See cases [RCV000448755] Chr15:23290786..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 copy number loss See cases [RCV000448456] Chr15:23620191..28437018 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 copy number loss See cases [RCV000448093] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000778423]|not provided [RCV000766740]|not specified [RCV000483390] Chr15:27990583 [GRCh38]
Chr15:28235729 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2338+2T>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470590]|not provided [RCV000481150] Chr15:27851380 [GRCh38]
Chr15:28096526 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1021G>A (p.Val341Ile) single nucleotide variant not provided [RCV000481251] Chr15:28014799 [GRCh38]
Chr15:28259945 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu) single nucleotide variant not provided [RCV000487105] Chr15:27844966 [GRCh38]
Chr15:28090112 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 copy number loss See cases [RCV000510622] Chr15:23615768..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg) single nucleotide variant not provided [RCV002527273]|not specified [RCV000501001] Chr15:27951844 [GRCh38]
Chr15:28196990 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.2245-6C>G single nucleotide variant not provided [RCV002524244]|not specified [RCV000503244] Chr15:27851481 [GRCh38]
Chr15:28096627 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q12-13.1(chr15:28036720-29244373)x3 copy number gain See cases [RCV000510634] Chr15:28036720..29244373 [GRCh37]
Chr15:15q12-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu) single nucleotide variant not specified [RCV000503665] Chr15:28024883 [GRCh38]
Chr15:28270029 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 copy number loss See cases [RCV000510211] Chr15:23625784..28540345 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) single nucleotide variant OCA2-related condition [RCV003403148]|Tyrosinase-positive oculocutaneous albinism [RCV000501419]|not provided [RCV000727245]|not specified [RCV001172458] Chr15:28081796 [GRCh38]
Chr15:28326942 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_000275.3(OCA2):c.807+1G>T single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470630]|Tyrosinase-positive oculocutaneous albinism [RCV000501883]|Tyrosinase-positive oculocutaneous albinism [RCV002490839]|not provided [RCV001857136] Chr15:28018396 [GRCh38]
Chr15:28263542 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 copy number loss See cases [RCV000510689] Chr15:23615769..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2080-1G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000504359] Chr15:27871923 [GRCh38]
Chr15:28117069 [GRCh37]
Chr15:15q13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 copy number gain See cases [RCV000510296] Chr15:23615769..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1182+1G>A single nucleotide variant OCA2-related condition [RCV003424061]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464075]|Tyrosinase-positive oculocutaneous albinism [RCV000502094]|not provided [RCV001550696] Chr15:27989600 [GRCh38]
Chr15:28234746 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln) inversion Tyrosinase-positive oculocutaneous albinism [RCV000504518] Chr15:28016173..28016174 [GRCh38]
Chr15:28261319..28261320 [GRCh37]
Chr15:15q13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119574]|not provided [RCV000902597]|not specified [RCV000502401] Chr15:27871190 [GRCh38]
Chr15:28116336 [GRCh37]
Chr15:15q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV000500286] Chr15:28081747..28081754 [GRCh38]
Chr15:28326893..28326900 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.171del (p.Gln58fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV000500321] Chr15:28081704 [GRCh38]
Chr15:28326850 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116702]|not provided [RCV000908217]|not specified [RCV000502777] Chr15:27957693 [GRCh38]
Chr15:28202839 [GRCh37]
Chr15:15q13.1
benign|likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) single nucleotide variant Albinism [RCV000505060]|Inborn genetic diseases [RCV000624810]|Oculocutaneous albinism [RCV003330734]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470629]|Tyrosinase-positive oculocutaneous albinism [RCV000500809]|Tyrosinase-positive oculocutaneous albinism [RCV000762936]|not provided [RCV001326085] Chr15:27845052 [GRCh38]
Chr15:28090198 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470613]|Tyrosinase-positive oculocutaneous albinism [RCV000762937]|Tyrosinase-positive oculocutaneous albinism [RCV002470881]|not provided [RCV000493655] Chr15:27851390 [GRCh38]
Chr15:28096536 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 copy number loss See cases [RCV000511670] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 copy number loss See cases [RCV000511767] Chr15:23290786..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 copy number gain See cases [RCV000511592] Chr15:23615768..28534245 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 copy number loss See cases [RCV000511600] Chr15:23620191..28534359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 copy number gain See cases [RCV000511850] Chr15:23615769..28953483 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 copy number loss See cases [RCV000510883] Chr15:23620191..28539975 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 copy number loss See cases [RCV000511196] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2055del (p.Phe685fs) deletion OCA2-related condition [RCV003424048]|Tyrosinase-positive oculocutaneous albinism [RCV000496043] Chr15:27926151 [GRCh38]
Chr15:28171297 [GRCh37]
Chr15:15q13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 copy number loss See cases [RCV000510894] Chr15:23620191..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 copy number gain See cases [RCV000510929] Chr15:23620191..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 copy number gain See cases [RCV000510737] Chr15:23620191..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 copy number gain See cases [RCV000511275] Chr15:23290862..28958779 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) single nucleotide variant Inborn genetic diseases [RCV000624441]|Tyrosinase-positive oculocutaneous albinism [RCV001797766]|not provided [RCV001662669] Chr15:28014820 [GRCh38]
Chr15:28259966 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.1574C>T (p.Pro525Leu) single nucleotide variant not provided [RCV000520131] Chr15:27966752 [GRCh38]
Chr15:28211898 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Autism [RCV000626505] Chr15:23810397..29213787 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1365-10T>C single nucleotide variant not provided [RCV002531652]|not specified [RCV000607994] Chr15:27983493 [GRCh38]
Chr15:28228639 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.574-19A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001797759]|not provided [RCV000729766]|not specified [RCV000612309] Chr15:28022592 [GRCh38]
Chr15:28267738 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.808_817del (p.Val270fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV003318427] Chr15:28016177..28016186 [GRCh38]
Chr15:28261323..28261332 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 copy number loss See cases [RCV000512394] Chr15:23615769..28163991 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 copy number loss See cases [RCV000512355] Chr15:23620191..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 copy number loss See cases [RCV000512547] Chr15:23286571..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr) single nucleotide variant not provided [RCV000513084] Chr15:27983383 [GRCh38]
Chr15:28228529 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 copy number gain not provided [RCV000683636] Chr15:22770421..31073668 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 copy number gain not provided [RCV000683649] Chr15:23632677..28723454 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q12-13.1(chr15:28019085-28334324)x1 copy number loss not provided [RCV000683656] Chr15:28019085..28334324 [GRCh37]
Chr15:15q12-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 copy number loss not provided [RCV000683640] Chr15:22876919..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 copy number loss not provided [RCV000683641] Chr15:23286571..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 copy number loss not provided [RCV000683642] Chr15:23288374..28705281 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 copy number loss not provided [RCV000683643] Chr15:23288374..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 copy number gain not provided [RCV000683645] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 copy number gain not provided [RCV000683647] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 copy number loss not provided [RCV000683650] Chr15:23637603..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 copy number loss not provided [RCV000683635] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 copy number loss not provided [RCV000683644] Chr15:23290786..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 copy number loss not provided [RCV000683646] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 copy number gain not provided [RCV000683648] Chr15:23632677..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1 copy number loss Tyrosinase-positive oculocutaneous albinism [RCV000709814] Chr15:28262885..28265761 [GRCh37]
Chr15:15q13.1
not provided
GRCh37/hg19 15q12-13.1(chr15:27571956-28600013) copy number loss Developmental delay with autism spectrum disorder and gait instability [RCV001004084] Chr15:27571956..28600013 [GRCh37]
Chr15:15q12-13.1
pathogenic
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755083] Chr15:27990636 [GRCh38]
Chr15:28235782 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) indel Nonsyndromic Oculocutaneous Albinism [RCV000755081] Chr15:28014833 [GRCh38]
Chr15:28259979 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755093] Chr15:27845031 [GRCh38]
Chr15:28090177 [GRCh37]
Chr15:15q13.1
likely pathogenic
Single allele duplication Schizophrenia [RCV000754156] Chr15:23319712..28684313 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 copy number loss not provided [RCV000738660] Chr15:23672782..28532120 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 copy number loss not provided [RCV000738661] Chr15:23672782..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 copy number gain not provided [RCV000738662] Chr15:23693406..29085893 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q12-13.1(chr15:27496959-28924405)x3 copy number gain not provided [RCV000738695] Chr15:27496959..28924405 [GRCh37]
Chr15:15q12-13.1
benign
GRCh37/hg19 15q12-13.1(chr15:27963180-28705017)x3 copy number gain not provided [RCV000738696] Chr15:27963180..28705017 [GRCh37]
Chr15:15q12-13.1
benign
GRCh37/hg19 15q13.1(chr15:28239710-28535266)x3 copy number gain not provided [RCV000738697] Chr15:28239710..28535266 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28341659-28351299)x1 copy number loss not provided [RCV000738698] Chr15:28341659..28351299 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28341659-28353389)x1 copy number loss not provided [RCV000738699] Chr15:28341659..28353389 [GRCh37]
Chr15:15q13.1
benign
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3
pathogenic
Single allele duplication Autism [RCV000754157] Chr15:23319712..28800324 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 copy number gain not provided [RCV000751181] Chr15:23109890..29085893 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 copy number gain not provided [RCV000751185] Chr15:23656946..28506450 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 copy number gain not provided [RCV000751186] Chr15:23656946..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 copy number gain not provided [RCV000751187] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 copy number loss not provided [RCV000751188] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470868]|Tyrosinase-positive oculocutaneous albinism [RCV001810100]|not provided [RCV001583207] Chr15:27985079 [GRCh38]
Chr15:28230225 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.2244+344_2244+345del deletion not provided [RCV001609536] Chr15:27870809..27870810 [GRCh38]
Chr15:28115955..28115956 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2139+22A>T single nucleotide variant not provided [RCV001691140] Chr15:27871841 [GRCh38]
Chr15:28116987 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2079+126A>G single nucleotide variant not provided [RCV001709012] Chr15:27926001 [GRCh38]
Chr15:28171147 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+198dup duplication not provided [RCV001690348] Chr15:27870955..27870956 [GRCh38]
Chr15:28116101..28116102 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.326+151C>T single nucleotide variant not provided [RCV001680487] Chr15:28031914 [GRCh38]
Chr15:28277060 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755090]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465673]|not provided [RCV003133584] Chr15:27951813 [GRCh38]
Chr15:28196959 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.2339-128C>T single nucleotide variant not provided [RCV001612910] Chr15:27845180 [GRCh38]
Chr15:28090326 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2245-221C>T single nucleotide variant not provided [RCV001666706] Chr15:27851696 [GRCh38]
Chr15:28096842 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys) single nucleotide variant not provided [RCV000761902] Chr15:27926226 [GRCh38]
Chr15:28171372 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) single nucleotide variant OCA2-related condition [RCV003396329]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465683]|not provided [RCV000761901] Chr15:27926127 [GRCh38]
Chr15:28171273 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755089]|Tyrosinase-positive oculocutaneous albinism [RCV000785612] Chr15:27983392 [GRCh38]
Chr15:28228538 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755094]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465674]|Tyrosinase-positive oculocutaneous albinism [RCV000785611]|Tyrosinase-positive oculocutaneous albinism [RCV002507318]|not provided [RCV001093224] Chr15:27845031 [GRCh38]
Chr15:28090177 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755084]|not provided [RCV001869018] Chr15:27990628 [GRCh38]
Chr15:28235774 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.1364+26A>G single nucleotide variant not provided [RCV001682095] Chr15:27985038 [GRCh38]
Chr15:28230184 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14
pathogenic
NM_000275.3(OCA2):c.2432+183G>A single nucleotide variant not provided [RCV001666210] Chr15:27844776 [GRCh38]
Chr15:28089922 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1952-270A>T single nucleotide variant not provided [RCV001681411] Chr15:27926524 [GRCh38]
Chr15:28171670 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.326+231C>G single nucleotide variant not provided [RCV001709225] Chr15:28031834 [GRCh38]
Chr15:28276980 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1134T>C (p.His378=) single nucleotide variant not provided [RCV000902641] Chr15:27989649 [GRCh38]
Chr15:28234795 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2500G>A (p.Val834Met) single nucleotide variant not provided [RCV000969653] Chr15:27755405 [GRCh38]
Chr15:28000551 [GRCh37]
Chr15:15q12
benign
NM_000275.3(OCA2):c.1364G>A (p.Arg455Lys) single nucleotide variant not provided [RCV000882480] Chr15:27985064 [GRCh38]
Chr15:28230210 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2088A>G (p.Ala696=) single nucleotide variant not provided [RCV000975800] Chr15:27871914 [GRCh38]
Chr15:28117060 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.232C>T (p.His78Tyr) single nucleotide variant not provided [RCV000901113] Chr15:28032159 [GRCh38]
Chr15:28277305 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2432+8del deletion not provided [RCV000903084] Chr15:27844951 [GRCh38]
Chr15:28090097 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000779152]|not provided [RCV001568483] Chr15:27871197 [GRCh38]
Chr15:28116343 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000779153] Chr15:27957673 [GRCh38]
Chr15:28202819 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Angelman syndrome [RCV000767725] Chr15:23683783..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) copy number gain 15q11q13 microduplication syndrome [RCV000767754] Chr15:23810397..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003461049]|Tyrosinase-positive oculocutaneous albinism [RCV000778422]|Tyrosinase-positive oculocutaneous albinism [RCV002487598]|not provided [RCV001339980]|not specified [RCV003155310] Chr15:27985065 [GRCh38]
Chr15:28230211 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.681del (p.Leu228fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV000778424] Chr15:28018523 [GRCh38]
Chr15:28263669 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1242A>C (p.Ala414=) single nucleotide variant not provided [RCV000923445] Chr15:27985186 [GRCh38]
Chr15:28230332 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Angelman syndrome [RCV000767721] Chr15:22770994..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Angelman syndrome [RCV000767724] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.696G>C (p.Leu232=) single nucleotide variant not provided [RCV000899384] Chr15:28018508 [GRCh38]
Chr15:28263654 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) copy number loss Prader-Willi syndrome [RCV000767726] Chr15:23810184..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) copy number gain 15q11q13 microduplication syndrome [RCV000767753] Chr15:23810184..29213896 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2245-6C>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118039]|not provided [RCV000827172] Chr15:27851481 [GRCh38]
Chr15:28096627 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1460C>A (p.Pro487His) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000851378] Chr15:27983388 [GRCh38]
Chr15:28228534 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465688]|Tyrosinase-positive oculocutaneous albinism [RCV000851380]|not provided [RCV001578073] Chr15:27845028 [GRCh38]
Chr15:28090174 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1637-2A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000851381] Chr15:27957737 [GRCh38]
Chr15:28202883 [GRCh37]
Chr15:15q13.1
likely pathogenic
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del deletion Tyrosinase-positive oculocutaneous albinism [RCV000851382] Chr15:27989539..27989540 [GRCh38]
Chr15:28234685..28234686 [GRCh37]
Chr15:15q13.1
pathogenic
GRCh37/hg19 15q13.1(chr15:28118372-28304810)x1 copy number loss not provided [RCV000849126] Chr15:28118372..28304810 [GRCh37]
Chr15:15q13.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787376] Chr15:23699983..28436313 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del deletion Tyrosinase-positive oculocutaneous albinism [RCV000785613] Chr15:28263554..28263623 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119693]|not provided [RCV002069944]|not specified [RCV003235472] Chr15:27985092 [GRCh38]
Chr15:28230238 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
Single allele duplication 15q11q13 microduplication syndrome [RCV000825026] Chr15:23810928..28544664 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116588]|not provided [RCV002069880] Chr15:27844979 [GRCh38]
Chr15:28090125 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1784+6G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116699] Chr15:27957582 [GRCh38]
Chr15:28202728 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.885G>A (p.Leu295=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116805] Chr15:28016109 [GRCh38]
Chr15:28261255 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2169C>T (p.Ala723=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119576]|not provided [RCV002069942] Chr15:27871229 [GRCh38]
Chr15:28116375 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.646+1G>A single nucleotide variant not provided [RCV003238977] Chr15:28022500 [GRCh38]
Chr15:28267646 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119695]|Tyrosinase-positive oculocutaneous albinism [RCV002491371]|not provided [RCV002556557] Chr15:27985167 [GRCh38]
Chr15:28230313 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.126C>T (p.Ala42=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119792]|not provided [RCV001519361] Chr15:28081749 [GRCh38]
Chr15:28326895 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119793]|not provided [RCV001760086] Chr15:28081769 [GRCh38]
Chr15:28326915 [GRCh37]
Chr15:15q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116587] Chr15:27755467 [GRCh38]
Chr15:28000613 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116700]|not provided [RCV001515895] Chr15:27957610 [GRCh38]
Chr15:28202756 [GRCh37]
Chr15:15q13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.654C>A (p.Asn218Lys) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118261] Chr15:28018550 [GRCh38]
Chr15:28263696 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000851377] Chr15:27985142 [GRCh38]
Chr15:28230288 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465687]|Tyrosinase-positive oculocutaneous albinism [RCV000851375] Chr15:28022564 [GRCh38]
Chr15:28267710 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del deletion Tyrosinase-positive oculocutaneous albinism [RCV000851383] Chr15:27871281..27871282 [GRCh38]
Chr15:28116427..28116428 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro) single nucleotide variant not provided [RCV001889129] Chr15:27957667 [GRCh38]
Chr15:28202813 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.506C>T (p.Ser169Phe) single nucleotide variant not provided [RCV001888989] Chr15:28027880 [GRCh38]
Chr15:28273026 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
Single allele deletion Angelman syndrome [RCV001250751] Chr15:23579300..28447626 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV000851376] Chr15:27989660..27989663 [GRCh38]
Chr15:28234806..28234809 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV000851379] Chr15:27926233 [GRCh38]
Chr15:28171379 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003461297]|Tyrosinase-positive oculocutaneous albinism [RCV000989277]|Tyrosinase-positive oculocutaneous albinism [RCV002497282]|not provided [RCV001869361] Chr15:27845032 [GRCh38]
Chr15:28090178 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 15q12-13.2(chr15:27666103-30386553)x1 copy number loss not provided [RCV000845688] Chr15:27666103..30386553 [GRCh37]
Chr15:15q12-13.2
uncertain significance
NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121584] Chr15:27951886 [GRCh38]
Chr15:28197032 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118036]|not provided [RCV002069906] Chr15:27851424 [GRCh38]
Chr15:28096570 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116704]|not provided [RCV001856532] Chr15:27966695 [GRCh38]
Chr15:28211841 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116705]|not provided [RCV001519425] Chr15:27966766 [GRCh38]
Chr15:28211912 [GRCh37]
Chr15:15q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr) single nucleotide variant Oculocutaneous albinism [RCV003317723] Chr15:27871182 [GRCh38]
Chr15:28116328 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.973G>A (p.Gly325Arg) single nucleotide variant Inborn genetic diseases [RCV003274611] Chr15:28014847 [GRCh38]
Chr15:28259993 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.-21-129G>A single nucleotide variant not provided [RCV001686856] Chr15:28082024 [GRCh38]
Chr15:28327170 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1951+109A>G single nucleotide variant not provided [RCV001637757] Chr15:27951675 [GRCh38]
Chr15:28196821 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.574-39T>C single nucleotide variant not provided [RCV001615488] Chr15:28022612 [GRCh38]
Chr15:28267758 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1636+78T>C single nucleotide variant not provided [RCV001608376] Chr15:27966612 [GRCh38]
Chr15:28211758 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2140-294C>T single nucleotide variant not provided [RCV001674073] Chr15:27871552 [GRCh38]
Chr15:28116698 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+25C>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001788736]|not provided [RCV001671828] Chr15:27871129 [GRCh38]
Chr15:28116275 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1182+276dup duplication not provided [RCV001638396] Chr15:27989317..27989318 [GRCh38]
Chr15:28234463..28234464 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+127G>A single nucleotide variant not provided [RCV001688907] Chr15:27871027 [GRCh38]
Chr15:28116173 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2140-183A>G single nucleotide variant not provided [RCV001709332] Chr15:27871441 [GRCh38]
Chr15:28116587 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2079+145T>C single nucleotide variant not provided [RCV001693346] Chr15:27925982 [GRCh38]
Chr15:28171128 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.891-234G>A single nucleotide variant not provided [RCV001694522] Chr15:28015163 [GRCh38]
Chr15:28260309 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1364+113G>A single nucleotide variant not provided [RCV001617311] Chr15:27984951 [GRCh38]
Chr15:28230097 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.227+258T>A single nucleotide variant not provided [RCV001687720] Chr15:28081390 [GRCh38]
Chr15:28326536 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1504-320GTTT[2] microsatellite not provided [RCV001620837] Chr15:27967131..27967134 [GRCh38]
Chr15:28212277..28212280 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+299G>C single nucleotide variant not provided [RCV001670698] Chr15:27870855 [GRCh38]
Chr15:28116001 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1785-47A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001788706]|not provided [RCV001658496] Chr15:27955262 [GRCh38]
Chr15:28200408 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121580]|not provided [RCV000933522] Chr15:27926163 [GRCh38]
Chr15:28171309 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.711G>A (p.Val237=) single nucleotide variant not provided [RCV000922655] Chr15:28018493 [GRCh38]
Chr15:28263639 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.647-4C>T single nucleotide variant not provided [RCV000905122] Chr15:28018561 [GRCh38]
Chr15:28263707 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116701]|not provided [RCV000959176] Chr15:27957628 [GRCh38]
Chr15:28202774 [GRCh37]
Chr15:15q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.*410C>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121478] Chr15:27754978 [GRCh38]
Chr15:28000124 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.*367C>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121480] Chr15:27755021 [GRCh38]
Chr15:28000167 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter) single nucleotide variant not provided [RCV001093223] Chr15:27844985 [GRCh38]
Chr15:28090131 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.573+6T>C single nucleotide variant not provided [RCV001093226] Chr15:28024839 [GRCh38]
Chr15:28269985 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121677]|not provided [RCV001327248] Chr15:27989623 [GRCh38]
Chr15:28234769 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|benign|likely benign|uncertain significance
NM_000275.3(OCA2):c.1656C>T (p.His552=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116703]|not provided [RCV002069885] Chr15:27957716 [GRCh38]
Chr15:28202862 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116800] Chr15:28014793 [GRCh38]
Chr15:28259939 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.972C>T (p.Arg324=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001116804]|not provided [RCV002069886] Chr15:28014848 [GRCh38]
Chr15:28259994 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1212G>A (p.Thr404=) single nucleotide variant not provided [RCV000911653] Chr15:27986614 [GRCh38]
Chr15:28231760 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.723G>A (p.Pro241=) single nucleotide variant not provided [RCV000934730] Chr15:28018481 [GRCh38]
Chr15:28263627 [GRCh37]
Chr15:15q13.1
likely benign
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470862]|not provided [RCV001553116] Chr15:27951834 [GRCh38]
Chr15:28196980 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 copy number gain not provided [RCV002473936] Chr15:22770422..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q12-13.1(chr15:27932902-28545459)x3 copy number gain not provided [RCV002473883] Chr15:27932902..28545459 [GRCh37]
Chr15:15q12-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 copy number gain not provided [RCV002473944] Chr15:22770422..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) indel OCA2-related condition [RCV003396593]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003467584]|not provided [RCV001008759] Chr15:27926154..27926155 [GRCh38]
Chr15:28171300..28171301 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.-21-327T>C single nucleotide variant not provided [RCV001595950] Chr15:28082222 [GRCh38]
Chr15:28327368 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1324_1326del (p.Asn442del) deletion not provided [RCV001581404] Chr15:27985102..27985104 [GRCh38]
Chr15:28230248..28230250 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1784+71G>A single nucleotide variant not provided [RCV001656553] Chr15:27957517 [GRCh38]
Chr15:28202663 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.807+299del deletion not provided [RCV001656731] Chr15:28018098 [GRCh38]
Chr15:28263244 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1842+262G>A single nucleotide variant not provided [RCV001687282] Chr15:27954896 [GRCh38]
Chr15:28200042 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+163T>C single nucleotide variant not provided [RCV001598839] Chr15:27870991 [GRCh38]
Chr15:28116137 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+210C>T single nucleotide variant not provided [RCV001638544] Chr15:27870944 [GRCh38]
Chr15:28116090 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr) single nucleotide variant not provided [RCV001093227] Chr15:28081829 [GRCh38]
Chr15:28326975 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121583]|not provided [RCV001429605]|not specified [RCV001701288] Chr15:27951878 [GRCh38]
Chr15:28197024 [GRCh37]
Chr15:15q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2229G>A (p.Pro743=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119573]|not provided [RCV002069941] Chr15:27871169 [GRCh38]
Chr15:28116315 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1337T>C (p.Met446Thr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119692] Chr15:27985091 [GRCh38]
Chr15:28230237 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.*371G>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121479] Chr15:27755017 [GRCh38]
Chr15:28000163 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.*54A>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121482]|Tyrosinase-positive oculocutaneous albinism [RCV002480493] Chr15:27755334 [GRCh38]
Chr15:28000480 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121676]|not provided [RCV003106122] Chr15:27986604 [GRCh38]
Chr15:28231750 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1864C>T (p.Leu622=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121582]|not provided [RCV002069975] Chr15:27951871 [GRCh38]
Chr15:28197017 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.2244+259del deletion not provided [RCV001682577] Chr15:27870895 [GRCh38]
Chr15:28116041 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1785-293C>T single nucleotide variant not provided [RCV001707259] Chr15:27955508 [GRCh38]
Chr15:28200654 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1952-209_1952-208insA insertion not provided [RCV001681873] Chr15:27926462..27926463 [GRCh38]
Chr15:28171608..28171609 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1117-300A>G single nucleotide variant not provided [RCV001684387] Chr15:27989966 [GRCh38]
Chr15:28235112 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2139+106T>C single nucleotide variant not provided [RCV001684392] Chr15:27871757 [GRCh38]
Chr15:28116903 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.646+113_646+114insCCATTCTCAC insertion not provided [RCV001691141] Chr15:28022387..28022388 [GRCh38]
Chr15:28267533..28267534 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1289G>A (p.Cys430Tyr) single nucleotide variant not provided [RCV001586572] Chr15:27985139 [GRCh38]
Chr15:28230285 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1044+59T>C single nucleotide variant not provided [RCV001708238] Chr15:28014717 [GRCh38]
Chr15:28259863 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.327-145A>G single nucleotide variant not provided [RCV001614333] Chr15:28028204 [GRCh38]
Chr15:28273350 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1784+109G>T single nucleotide variant not provided [RCV001672148] Chr15:27957479 [GRCh38]
Chr15:28202625 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2338+179A>G single nucleotide variant not provided [RCV001609625] Chr15:27851203 [GRCh38]
Chr15:28096349 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.326+210A>G single nucleotide variant not provided [RCV001666149] Chr15:28031855 [GRCh38]
Chr15:28277001 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2140-134C>T single nucleotide variant not provided [RCV001650331] Chr15:27871392 [GRCh38]
Chr15:28116538 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470870]|not provided [RCV001589947] Chr15:27871907..27871916 [GRCh38]
Chr15:28117053..28117062 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.2244+279A>G single nucleotide variant not provided [RCV001681407] Chr15:27870875 [GRCh38]
Chr15:28116021 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2139+64dup duplication not provided [RCV001612680] Chr15:27871788..27871789 [GRCh38]
Chr15:28116934..28116935 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2139+111A>G single nucleotide variant not provided [RCV001652569] Chr15:27871752 [GRCh38]
Chr15:28116898 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1784+161C>T single nucleotide variant not provided [RCV001692943] Chr15:27957427 [GRCh38]
Chr15:28202573 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2338+207C>T single nucleotide variant not provided [RCV001649504] Chr15:27851175 [GRCh38]
Chr15:28096321 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1951+45G>C single nucleotide variant not provided [RCV001669748] Chr15:27951739 [GRCh38]
Chr15:28196885 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001249766] Chr15:27985109 [GRCh38]
Chr15:28230255 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003467756]|Tyrosinase-positive oculocutaneous albinism [RCV003128258]|not provided [RCV001048856] Chr15:27851396 [GRCh38]
Chr15:28096542 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118038]|not provided [RCV001862900] Chr15:27851433 [GRCh38]
Chr15:28096579 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2361G>A (p.Ala787=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118035]|not provided [RCV002069905] Chr15:27845030 [GRCh38]
Chr15:28090176 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.751G>A (p.Val251Met) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118259]|not provided [RCV002069910] Chr15:28018453 [GRCh38]
Chr15:28263599 [GRCh37]
Chr15:15q13.1
benign|uncertain significance
NM_000275.3(OCA2):c.162G>A (p.Gly54=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001119791] Chr15:28081713 [GRCh38]
Chr15:28326859 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000275.3(OCA2):c.*271G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121481] Chr15:27755117 [GRCh38]
Chr15:28000263 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.1503+7A>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118144]|not provided [RCV002069908] Chr15:27983338 [GRCh38]
Chr15:28228484 [GRCh37]
Chr15:15q13.1
benign|uncertain significance
NM_000275.3(OCA2):c.1479T>G (p.Val493=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001118145]|not provided [RCV001515035] Chr15:27983369 [GRCh38]
Chr15:28228515 [GRCh37]
Chr15:15q13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 copy number loss not provided [RCV001007484] Chr15:24740574..28659911 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) deletion Oculocutaneous albinism [RCV003331021]|not provided [RCV001009217] Chr15:28024852..28024853 [GRCh38]
Chr15:28269998..28269999 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1842+6C>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001121585] Chr15:27955152 [GRCh38]
Chr15:28200298 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q12-13.1(chr15:28090172-28262709)x1 copy number loss not provided [RCV001258586] Chr15:28090172..28262709 [GRCh37]
Chr15:15q12-13.1
uncertain significance
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2336del (p.Gly779fs) deletion not provided [RCV001311381] Chr15:27851384 [GRCh38]
Chr15:28096530 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.515G>A (p.Arg172Lys) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001332332] Chr15:28027871 [GRCh38]
Chr15:28273017 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1657_1675del (p.Val553fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV001263486] Chr15:27957697..27957715 [GRCh38]
Chr15:28202843..28202861 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 copy number loss not provided [RCV001281355] Chr15:23707435..28726651 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.530_532del (p.Trp177del) deletion not provided [RCV001326281]|not specified [RCV003387997] Chr15:28024886..28024888 [GRCh38]
Chr15:28270032..28270034 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002283540]|Tyrosinase-positive oculocutaneous albinism [RCV002486168]|not provided [RCV001302975] Chr15:28016145 [GRCh38]
Chr15:28261291 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1234G>A (p.Val412Ile) single nucleotide variant not provided [RCV001305876] Chr15:27986592 [GRCh38]
Chr15:28231738 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1138G>A (p.Val380Met) single nucleotide variant not provided [RCV001311382] Chr15:27989645 [GRCh38]
Chr15:28234791 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1083T>C (p.Leu361=) single nucleotide variant not provided [RCV001412961] Chr15:27990609 [GRCh38]
Chr15:28235755 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.157del (p.Arg53fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462985]|Tyrosinase-positive oculocutaneous albinism [RCV001797836]|Tyrosinase-positive oculocutaneous albinism [RCV002499794]|not provided [RCV001382526] Chr15:28081718 [GRCh38]
Chr15:28326864 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 copy number loss not provided [RCV001537909] Chr15:23616095..28538904 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.600A>T (p.Gln200His) single nucleotide variant not provided [RCV001346586] Chr15:28022547 [GRCh38]
Chr15:28267693 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1631T>G (p.Ile544Ser) single nucleotide variant not provided [RCV001356943] Chr15:27966695 [GRCh38]
Chr15:28211841 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) single nucleotide variant not provided [RCV001323063] Chr15:28081846 [GRCh38]
Chr15:28326992 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) copy number gain Epileptic encephalopathy [RCV001291989] Chr15:23208842..28525460 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu) single nucleotide variant not provided [RCV001305145] Chr15:27957684 [GRCh38]
Chr15:28202830 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.890+1G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001269031]|not provided [RCV001873596] Chr15:28016103 [GRCh38]
Chr15:28261249 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462930]|Tyrosinase-positive oculocutaneous albinism [RCV003389336]|not provided [RCV001366949] Chr15:27966746 [GRCh38]
Chr15:28211892 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.891-4G>T single nucleotide variant not provided [RCV001496121] Chr15:28014933 [GRCh38]
Chr15:28260079 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2432+17T>G single nucleotide variant not provided [RCV001425085] Chr15:27844942 [GRCh38]
Chr15:28090088 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2433-19A>G single nucleotide variant not provided [RCV001499118] Chr15:27755491 [GRCh38]
Chr15:28000637 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.896C>T (p.Thr299Met) single nucleotide variant not provided [RCV001466254] Chr15:28014924 [GRCh38]
Chr15:28260070 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1020C>T (p.Gly340=) single nucleotide variant not provided [RCV001512701] Chr15:28014800 [GRCh38]
Chr15:28259946 [GRCh37]
Chr15:15q13.1
benign
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_000275.3(OCA2):c.2080-179G>T single nucleotide variant not provided [RCV001541441] Chr15:27872101 [GRCh38]
Chr15:28117247 [GRCh37]
Chr15:15q13.1
benign
Single allele deletion Tyrosinase-positive oculocutaneous albinism [RCV001420680] Chr15:28119923..28339403 [GRCh37]
Chr15:15q13.1
pathogenic
Single allele deletion Tyrosinase-positive oculocutaneous albinism [RCV001420681] Chr15:28143225..28339403 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28263523)_(28263723_?)del deletion not provided [RCV001387699] Chr15:28263523..28263723 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28171253)_(28231809_?)del deletion not provided [RCV001387700] Chr15:28171253..28231809 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1575G>A (p.Pro525=) single nucleotide variant not provided [RCV001408949] Chr15:27966751 [GRCh38]
Chr15:28211897 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128269]|not provided [RCV001532247] Chr15:27926223 [GRCh38]
Chr15:28171369 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.163del (p.Ala55fs) deletion not provided [RCV001698893] Chr15:28081712 [GRCh38]
Chr15:28326858 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1784+93G>A single nucleotide variant not provided [RCV001613860] Chr15:27957495 [GRCh38]
Chr15:28202641 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1116+16C>T single nucleotide variant not provided [RCV001503575] Chr15:27990560 [GRCh38]
Chr15:28235706 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.970C>T (p.Arg324Cys) single nucleotide variant not provided [RCV001452237] Chr15:28014850 [GRCh38]
Chr15:28259996 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.573+149G>A single nucleotide variant not provided [RCV001649909] Chr15:28024696 [GRCh38]
Chr15:28269842 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2432+178C>T single nucleotide variant not provided [RCV001686600] Chr15:27844781 [GRCh38]
Chr15:28089927 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1365-9T>C single nucleotide variant not provided [RCV001452491] Chr15:27983492 [GRCh38]
Chr15:28228638 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.574-18C>T single nucleotide variant not provided [RCV001512441] Chr15:28022591 [GRCh38]
Chr15:28267737 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2244+334CT[6] microsatellite not provided [RCV001685033] Chr15:27870810..27870811 [GRCh38]
Chr15:28115956..28115957 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2338+75T>C single nucleotide variant not provided [RCV001614431] Chr15:27851307 [GRCh38]
Chr15:28096453 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463054]|Tyrosinase-positive oculocutaneous albinism [RCV002477856]|not provided [RCV001587029] Chr15:28016126 [GRCh38]
Chr15:28261272 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.840G>A (p.Pro280=) single nucleotide variant not provided [RCV001460740] Chr15:28016154 [GRCh38]
Chr15:28261300 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.180T>C (p.Ser60=) single nucleotide variant not provided [RCV001489964] Chr15:28081695 [GRCh38]
Chr15:28326841 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1240-18C>G single nucleotide variant not provided [RCV001462517] Chr15:27985206 [GRCh38]
Chr15:28230352 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) single nucleotide variant not provided [RCV001520408] Chr15:28028021 [GRCh38]
Chr15:28273167 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_000275.3(OCA2):c.1644G>A (p.Lys548=) single nucleotide variant not provided [RCV001487745] Chr15:27957728 [GRCh38]
Chr15:28202874 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) single nucleotide variant not provided [RCV001517963]|not specified [RCV001821827] Chr15:28014866 [GRCh38]
Chr15:28260012 [GRCh37]
Chr15:15q13.1
benign|likely benign
NC_000015.9:g.(?_26107444)_(28230334_?)del deletion Epilepsy, childhood absence, susceptibility to, 1 [RCV003105342] Chr15:26107444..28230334 [GRCh37]
Chr15:15q12-13.1
pathogenic
NM_000275.3(OCA2):c.2272G>A (p.Asp758Asn) single nucleotide variant not provided [RCV003109111] Chr15:27851448 [GRCh38]
Chr15:28096594 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2154G>A (p.Glu718=) single nucleotide variant not provided [RCV003108686] Chr15:27871244 [GRCh38]
Chr15:28116390 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro) single nucleotide variant not provided [RCV001726936] Chr15:27957708 [GRCh38]
Chr15:28202854 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1016C>T (p.Ala339Val) single nucleotide variant Inborn genetic diseases [RCV002540357]|not provided [RCV001754828] Chr15:28014804 [GRCh38]
Chr15:28259950 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2079+5G>T single nucleotide variant not provided [RCV001768851] Chr15:27926122 [GRCh38]
Chr15:28171268 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.-21-5C>G single nucleotide variant not provided [RCV001773889] Chr15:28081900 [GRCh38]
Chr15:28327046 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2110G>T (p.Val704Phe) single nucleotide variant not provided [RCV001754614] Chr15:27871892 [GRCh38]
Chr15:28117038 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470914]|not provided [RCV001782547] Chr15:28016163 [GRCh38]
Chr15:28261309 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1678C>T (p.Arg560Cys) single nucleotide variant not provided [RCV001752321] Chr15:27957694 [GRCh38]
Chr15:28202840 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) single nucleotide variant OCA2-related condition [RCV003394239]|Tyrosinase-positive oculocutaneous albinism [RCV002471142]|not provided [RCV001773844] Chr15:28016120 [GRCh38]
Chr15:28261266 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) single nucleotide variant not provided [RCV001773853] Chr15:27755432 [GRCh38]
Chr15:28000578 [GRCh37]
Chr15:15q12
conflicting interpretations of pathogenicity|uncertain significance
NM_000275.3(OCA2):c.1118G>T (p.Arg373Ile) single nucleotide variant not provided [RCV001752322] Chr15:27989665 [GRCh38]
Chr15:28234811 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.102C>T (p.Gly34=) single nucleotide variant not provided [RCV001774645] Chr15:28081773 [GRCh38]
Chr15:28326919 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1843-9_1843-6del microsatellite not provided [RCV001755184]|not specified [RCV001821988] Chr15:27951898..27951901 [GRCh38]
Chr15:28197044..28197047 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1808del (p.Asn603fs) deletion not provided [RCV001782546] Chr15:27955192 [GRCh38]
Chr15:28200338 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1258_1264del (p.Gly420fs) deletion not provided [RCV001782548] Chr15:27985164..27985170 [GRCh38]
Chr15:28230310..28230316 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1880dup (p.Thr628fs) duplication not provided [RCV001784765] Chr15:27951854..27951855 [GRCh38]
Chr15:28197000..28197001 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1860G>C (p.Gly620=) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001797002] Chr15:27951875 [GRCh38]
Chr15:28197021 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2095C>A (p.His699Asn) single nucleotide variant not provided [RCV001758167] Chr15:27871907 [GRCh38]
Chr15:28117053 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1897G>T (p.Val633Phe) single nucleotide variant not provided [RCV001758168] Chr15:27951838 [GRCh38]
Chr15:28196984 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1430T>C (p.Ile477Thr) single nucleotide variant not provided [RCV001758773] Chr15:27983418 [GRCh38]
Chr15:28228564 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.122del (p.Gly41fs) deletion not provided [RCV001817779] Chr15:28081753 [GRCh38]
Chr15:28326899 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.573+5G>A single nucleotide variant not provided [RCV001869728]|not specified [RCV001820512] Chr15:28024840 [GRCh38]
Chr15:28269986 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu) single nucleotide variant not provided [RCV001885356]|not specified [RCV001817888] Chr15:27986625 [GRCh38]
Chr15:28231771 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1951+1G>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001806445] Chr15:27951783 [GRCh38]
Chr15:28196929 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV001808893] Chr15:27957724 [GRCh38]
Chr15:28202870 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1298C>T (p.Ala433Val) single nucleotide variant Inborn genetic diseases [RCV003164196]|not provided [RCV001894894] Chr15:27985130 [GRCh38]
Chr15:28230276 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1015G>A (p.Ala339Thr) single nucleotide variant not provided [RCV002045594] Chr15:28014805 [GRCh38]
Chr15:28259951 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.891-10C>A single nucleotide variant not provided [RCV001896396] Chr15:28014939 [GRCh38]
Chr15:28260085 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_000275.3(OCA2):c.2197G>C (p.Ala733Pro) single nucleotide variant not provided [RCV002025867] Chr15:27871201 [GRCh38]
Chr15:28116347 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2273A>T (p.Asp758Val) single nucleotide variant not provided [RCV001928359] Chr15:27851447 [GRCh38]
Chr15:28096593 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.744_746dup (p.Glu248_His249insGln) duplication not provided [RCV001988314] Chr15:28018457..28018458 [GRCh38]
Chr15:28263603..28263604 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1741G>A (p.Ala581Thr) single nucleotide variant not provided [RCV002040719] Chr15:27957631 [GRCh38]
Chr15:28202777 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1438G>C (p.Ala480Pro) single nucleotide variant not provided [RCV001964234] Chr15:27983410 [GRCh38]
Chr15:28228556 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1870G>A (p.Ala624Thr) single nucleotide variant not provided [RCV001864186] Chr15:27951865 [GRCh38]
Chr15:28197011 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.515+3A>G single nucleotide variant not provided [RCV001864333] Chr15:28027868 [GRCh38]
Chr15:28273014 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2338+1G>T single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464272]|not provided [RCV001950284] Chr15:27851381 [GRCh38]
Chr15:28096527 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1606C>A (p.Leu536Ile) single nucleotide variant not provided [RCV001895101] Chr15:27966720 [GRCh38]
Chr15:28211866 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.227+1_227+15del deletion not provided [RCV002024192] Chr15:28081633..28081647 [GRCh38]
Chr15:28326779..28326793 [GRCh37]
Chr15:15q13.1
likely pathogenic
NC_000015.9:g.(?_26792940)_(28544682_?)dup duplication Epilepsy, childhood absence, susceptibility to, 1 [RCV003107872]|not provided [RCV001874738] Chr15:26792940..28544682 [GRCh37]
Chr15:15q12-13.1
uncertain significance|no classifications from unflagged records
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002497956]|not provided [RCV002025506] Chr15:28014877 [GRCh38]
Chr15:28260023 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1031T>C (p.Leu344Pro) single nucleotide variant not provided [RCV002045031] Chr15:28014789 [GRCh38]
Chr15:28259935 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe) single nucleotide variant not provided [RCV002039382] Chr15:28024846 [GRCh38]
Chr15:28269992 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.286G>A (p.Glu96Lys) single nucleotide variant not provided [RCV001896649] Chr15:28032105 [GRCh38]
Chr15:28277251 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.733G>T (p.Gly245Trp) single nucleotide variant not provided [RCV001864247] Chr15:28018471 [GRCh38]
Chr15:28263617 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1698C>T (p.Arg566=) single nucleotide variant not provided [RCV001914223] Chr15:27957674 [GRCh38]
Chr15:28202820 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.553G>T (p.Ala185Ser) single nucleotide variant not provided [RCV001965859] Chr15:28024865 [GRCh38]
Chr15:28270011 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.65C>T (p.Thr22Met) single nucleotide variant Inborn genetic diseases [RCV002592639]|not provided [RCV002003935] Chr15:28081810 [GRCh38]
Chr15:28326956 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1579C>G (p.Leu527Val) single nucleotide variant not provided [RCV001966390] Chr15:27966747 [GRCh38]
Chr15:28211893 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.872C>T (p.Thr291Ile) single nucleotide variant not provided [RCV002040270] Chr15:28016122 [GRCh38]
Chr15:28261268 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1784+3A>C single nucleotide variant not provided [RCV001985903] Chr15:27957585 [GRCh38]
Chr15:28202731 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1044+2T>C single nucleotide variant not provided [RCV002002043] Chr15:28014774 [GRCh38]
Chr15:28259920 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2335G>A (p.Gly779Arg) single nucleotide variant not provided [RCV001965915] Chr15:27851385 [GRCh38]
Chr15:28096531 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.100G>A (p.Gly34Ser) single nucleotide variant not provided [RCV001911234] Chr15:28081775 [GRCh38]
Chr15:28326921 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2030T>C (p.Val677Ala) single nucleotide variant not provided [RCV002040969] Chr15:27926176 [GRCh38]
Chr15:28171322 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2154G>C (p.Glu718Asp) single nucleotide variant not provided [RCV002039474] Chr15:27871244 [GRCh38]
Chr15:28116390 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) single nucleotide variant not provided [RCV001912267] Chr15:27957673 [GRCh38]
Chr15:28202819 [GRCh37]
Chr15:15q13.1
pathogenic|conflicting interpretations of pathogenicity
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr) single nucleotide variant not provided [RCV001909173] Chr15:27845013 [GRCh38]
Chr15:28090159 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln) single nucleotide variant Inborn genetic diseases [RCV002561511]|not provided [RCV001984755] Chr15:27985166 [GRCh38]
Chr15:28230312 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1630A>G (p.Ile544Val) single nucleotide variant not provided [RCV002044508] Chr15:27966696 [GRCh38]
Chr15:28211842 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1183-4_1183-3delinsGC indel not provided [RCV001987523] Chr15:27986646..27986647 [GRCh38]
Chr15:28231792..28231793 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28000534)_(28000638_?)dup duplication not provided [RCV001913682] Chr15:28000534..28000638 [GRCh37]
Chr15:15q12
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.1364+5G>A single nucleotide variant not provided [RCV002023694] Chr15:27985059 [GRCh38]
Chr15:28230205 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.271_272delinsTT (p.Asp91Phe) indel not provided [RCV002024428] Chr15:28032119..28032120 [GRCh38]
Chr15:28277265..28277266 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1670C>T (p.Thr557Ile) single nucleotide variant not provided [RCV002040729] Chr15:27957702 [GRCh38]
Chr15:28202848 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs) insertion Tyrosinase-positive oculocutaneous albinism [RCV002052129] Chr15:27957665..27957666 [GRCh38]
Chr15:28202811..28202812 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.169G>A (p.Gly57Arg) single nucleotide variant not provided [RCV002042465] Chr15:28081706 [GRCh38]
Chr15:28326852 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2358C>T (p.Gly786=) single nucleotide variant not provided [RCV001983916] Chr15:27845033 [GRCh38]
Chr15:28090179 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.793C>T (p.Arg265Trp) single nucleotide variant not provided [RCV001911719] Chr15:28018411 [GRCh38]
Chr15:28263557 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1528G>A (p.Ala510Thr) single nucleotide variant not provided [RCV002041170] Chr15:27966798 [GRCh38]
Chr15:28211944 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.217A>G (p.Thr73Ala) single nucleotide variant not provided [RCV002023456] Chr15:28081658 [GRCh38]
Chr15:28326804 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.94G>T (p.Val32Leu) single nucleotide variant not provided [RCV001948994] Chr15:28081781 [GRCh38]
Chr15:28326927 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1346dup (p.Thr450fs) duplication not provided [RCV001987147] Chr15:27985081..27985082 [GRCh38]
Chr15:28230227..28230228 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1005G>A (p.Thr335=) single nucleotide variant not provided [RCV002042738] Chr15:28014815 [GRCh38]
Chr15:28259961 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.2290C>G (p.Pro764Ala) single nucleotide variant not provided [RCV001927685] Chr15:27851430 [GRCh38]
Chr15:28096576 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1017G>A (p.Ala339=) single nucleotide variant not provided [RCV001894930] Chr15:28014803 [GRCh38]
Chr15:28259949 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.407G>A (p.Arg136Gln) single nucleotide variant not provided [RCV001909378] Chr15:28027979 [GRCh38]
Chr15:28273125 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1240-24CT[3] microsatellite not provided [RCV001984073] Chr15:27985205..27985206 [GRCh38]
Chr15:28230351..28230352 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.1328T>C (p.Val443Ala) single nucleotide variant not provided [RCV002023760] Chr15:27985100 [GRCh38]
Chr15:28230246 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter) single nucleotide variant not provided [RCV001908306] Chr15:27926227 [GRCh38]
Chr15:28171373 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2275C>T (p.Pro759Ser) single nucleotide variant not provided [RCV002041393] Chr15:27851445 [GRCh38]
Chr15:28096591 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser) single nucleotide variant not provided [RCV001908396] Chr15:27983364 [GRCh38]
Chr15:28228510 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1843-1G>T single nucleotide variant not provided [RCV001946832] Chr15:27951893 [GRCh38]
Chr15:28197039 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs) deletion not provided [RCV001941934] Chr15:27845035..27845038 [GRCh38]
Chr15:28090181..28090184 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1765A>T (p.Arg589Trp) single nucleotide variant not provided [RCV001934966] Chr15:27957607 [GRCh38]
Chr15:28202753 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) single nucleotide variant not provided [RCV001884356] Chr15:27989605 [GRCh38]
Chr15:28234751 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.2079+4A>C single nucleotide variant not provided [RCV001867211] Chr15:27926123 [GRCh38]
Chr15:28171269 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2494C>T (p.His832Tyr) single nucleotide variant not provided [RCV001997655] Chr15:27755411 [GRCh38]
Chr15:28000557 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1364+6C>A single nucleotide variant not provided [RCV001880409] Chr15:27985058 [GRCh38]
Chr15:28230204 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1784+5C>T single nucleotide variant not provided [RCV001993826] Chr15:27957583 [GRCh38]
Chr15:28202729 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2160C>T (p.Arg720=) single nucleotide variant not provided [RCV002037693] Chr15:27871238 [GRCh38]
Chr15:28116384 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1400T>A (p.Val467Asp) single nucleotide variant not provided [RCV002001227] Chr15:27983448 [GRCh38]
Chr15:28228594 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.257G>C (p.Ser86Thr) single nucleotide variant not provided [RCV001924577] Chr15:28032134 [GRCh38]
Chr15:28277280 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1897G>A (p.Val633Ile) single nucleotide variant not provided [RCV001922346] Chr15:27951838 [GRCh38]
Chr15:28196984 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1999A>G (p.Ile667Val) single nucleotide variant not provided [RCV001963381] Chr15:27926207 [GRCh38]
Chr15:28171353 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471112]|not provided [RCV001990017] Chr15:28027893 [GRCh38]
Chr15:28273039 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1117-20A>G single nucleotide variant not provided [RCV001902038] Chr15:27989686 [GRCh38]
Chr15:28234832 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.916del (p.Ala306fs) deletion not provided [RCV002037685] Chr15:28014904 [GRCh38]
Chr15:28260050 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28211816)_(28277329_?)del deletion not provided [RCV001999731] Chr15:28211816..28277329 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28228471)_(28277329_?)dup duplication not provided [RCV001991379] Chr15:28228471..28277329 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1247G>C (p.Arg416Pro) single nucleotide variant not provided [RCV002014773] Chr15:27985181 [GRCh38]
Chr15:28230327 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.573+3G>A single nucleotide variant not provided [RCV001937754] Chr15:28024842 [GRCh38]
Chr15:28269988 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2501T>A (p.Val834Glu) single nucleotide variant not provided [RCV002018742] Chr15:27755404 [GRCh38]
Chr15:28000550 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1636+6T>G single nucleotide variant not provided [RCV001961429] Chr15:27966684 [GRCh38]
Chr15:28211830 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.44C>A (p.Pro15Gln) single nucleotide variant not provided [RCV002038255] Chr15:28081831 [GRCh38]
Chr15:28326977 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1016C>A (p.Ala339Glu) single nucleotide variant not provided [RCV002030016] Chr15:28014804 [GRCh38]
Chr15:28259950 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1756C>T (p.Leu586Phe) single nucleotide variant not provided [RCV001999350] Chr15:27957616 [GRCh38]
Chr15:28202762 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1504-2A>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471002]|not provided [RCV001886910] Chr15:27966824 [GRCh38]
Chr15:28211970 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1324A>G (p.Asn442Asp) single nucleotide variant not provided [RCV002000958] Chr15:27985104 [GRCh38]
Chr15:28230250 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1297G>A (p.Ala433Thr) single nucleotide variant not provided [RCV001943381] Chr15:27985131 [GRCh38]
Chr15:28230277 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2297C>T (p.Pro766Leu) single nucleotide variant not provided [RCV001886402] Chr15:27851423 [GRCh38]
Chr15:28096569 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28211816)_(28235813_?)del deletion not provided [RCV001942066] Chr15:28211816..28235813 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.178T>C (p.Ser60Pro) single nucleotide variant not provided [RCV002039152] Chr15:28081697 [GRCh38]
Chr15:28326843 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.822_823insTC (p.Thr275fs) insertion not provided [RCV001953693] Chr15:28016171..28016172 [GRCh38]
Chr15:28261317..28261318 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28171253)_(28235813_?)del deletion not provided [RCV001960758] Chr15:28171253..28235813 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.327G>A (p.Gly109=) single nucleotide variant not provided [RCV002027696] Chr15:28028059 [GRCh38]
Chr15:28273205 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2498TGG[2] (p.Val835del) microsatellite not provided [RCV001962730] Chr15:27755399..27755401 [GRCh38]
Chr15:28000545..28000547 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.2233A>G (p.Thr745Ala) single nucleotide variant not provided [RCV001996944] Chr15:27871165 [GRCh38]
Chr15:28116311 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2135del (p.Ile712fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471139]|not provided [RCV002000078] Chr15:27871867 [GRCh38]
Chr15:28117013 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) single nucleotide variant not provided [RCV001993284]|not specified [RCV003230717] Chr15:27983470 [GRCh38]
Chr15:28228616 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
NC_000015.10:g.27955214_27955217del deletion not provided [RCV002037948] Chr15:27955211..27955214 [GRCh38]
Chr15:28200357..28200360 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1116+2T>C single nucleotide variant not provided [RCV001963600] Chr15:27990574 [GRCh38]
Chr15:28235720 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2244+1G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003232462]|not provided [RCV001942988] Chr15:27871153 [GRCh38]
Chr15:28116299 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter) single nucleotide variant not provided [RCV001943586] Chr15:28027983 [GRCh38]
Chr15:28273129 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.792G>T (p.Trp264Cys) single nucleotide variant not provided [RCV001881471] Chr15:28018412 [GRCh38]
Chr15:28263558 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1850T>C (p.Ile617Thr) single nucleotide variant not provided [RCV002020201] Chr15:27951885 [GRCh38]
Chr15:28197031 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) single nucleotide variant Inborn genetic diseases [RCV002569152]|not provided [RCV001963223] Chr15:27851397 [GRCh38]
Chr15:28096543 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_26792940)_(28544682_?)del deletion not provided [RCV001972406] Chr15:26792940..28544682 [GRCh37]
Chr15:15q12-13.1
pathogenic
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002484402]|not provided [RCV001901536] Chr15:28081651 [GRCh38]
Chr15:28326797 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.938C>A (p.Ala313Asp) single nucleotide variant not provided [RCV001867099] Chr15:28014882 [GRCh38]
Chr15:28260028 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1843C>T (p.His615Tyr) single nucleotide variant not provided [RCV002011712] Chr15:27951892 [GRCh38]
Chr15:28197038 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.891-17G>A single nucleotide variant not provided [RCV002046862] Chr15:28014946 [GRCh38]
Chr15:28260092 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.649G>A (p.Val217Met) single nucleotide variant Inborn genetic diseases [RCV003264336]|not provided [RCV001951713] Chr15:28018555 [GRCh38]
Chr15:28263701 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys) single nucleotide variant not provided [RCV001993657] Chr15:27844996 [GRCh38]
Chr15:28090142 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28269971)_(28270068_?)del deletion not provided [RCV001899341] Chr15:28269971..28270068 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1354G>C (p.Val452Leu) single nucleotide variant not provided [RCV001876469] Chr15:27985074 [GRCh38]
Chr15:28230220 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28202714)_(28211988_?)dup duplication not provided [RCV001991388] Chr15:28202714..28211988 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2354T>C (p.Ile785Thr) single nucleotide variant not provided [RCV002049884] Chr15:27845037 [GRCh38]
Chr15:28090183 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1429A>G (p.Ile477Val) single nucleotide variant not provided [RCV001954674] Chr15:27983419 [GRCh38]
Chr15:28228565 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2506G>A (p.Gly836Arg) single nucleotide variant not provided [RCV001935970] Chr15:27755399 [GRCh38]
Chr15:28000545 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.158G>A (p.Arg53Lys) single nucleotide variant not provided [RCV002010908] Chr15:28081717 [GRCh38]
Chr15:28326863 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1568G>A (p.Cys523Tyr) single nucleotide variant not provided [RCV002050098] Chr15:27966758 [GRCh38]
Chr15:28211904 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2079+3A>G single nucleotide variant not provided [RCV001879276] Chr15:27926124 [GRCh38]
Chr15:28171270 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2087C>T (p.Ala696Val) single nucleotide variant not provided [RCV001879446] Chr15:27871915 [GRCh38]
Chr15:28117061 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1715G>A (p.Arg572His) single nucleotide variant not provided [RCV001995323] Chr15:27957657 [GRCh38]
Chr15:28202803 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1858G>A (p.Gly620Arg) single nucleotide variant not provided [RCV001934456] Chr15:27951877 [GRCh38]
Chr15:28197023 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1044+5C>T single nucleotide variant not provided [RCV002033169] Chr15:28014771 [GRCh38]
Chr15:28259917 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2431A>G (p.Arg811Gly) single nucleotide variant not provided [RCV002016594] Chr15:27844960 [GRCh38]
Chr15:28090106 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1679G>T (p.Arg560Leu) single nucleotide variant not provided [RCV001879689] Chr15:27957693 [GRCh38]
Chr15:28202839 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1862T>C (p.Ile621Thr) single nucleotide variant not provided [RCV002029353] Chr15:27951873 [GRCh38]
Chr15:28197019 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1611T>G (p.Tyr537Ter) single nucleotide variant not provided [RCV001960251] Chr15:27966715 [GRCh38]
Chr15:28211861 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.155C>G (p.Pro52Arg) single nucleotide variant not provided [RCV002034936] Chr15:28081720 [GRCh38]
Chr15:28326866 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28171253)_(28171420_?)del deletion not provided [RCV001906404] Chr15:28171253..28171420 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.647-3G>A single nucleotide variant not provided [RCV001926271] Chr15:28018560 [GRCh38]
Chr15:28263706 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28090085)_(28544682_?)dup duplication not provided [RCV002015408] Chr15:28090085..28544682 [GRCh37]
Chr15:15q12-13.1
uncertain significance
NM_000275.3(OCA2):c.470A>T (p.Asp157Val) single nucleotide variant not provided [RCV001886388] Chr15:28027916 [GRCh38]
Chr15:28273062 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1536G>A (p.Met512Ile) single nucleotide variant not provided [RCV002045920] Chr15:27966790 [GRCh38]
Chr15:28211936 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) deletion OCA2-related condition [RCV003407995]|not provided [RCV001996654] Chr15:27985151..27985153 [GRCh38]
Chr15:28230297..28230299 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
NM_000275.3(OCA2):c.824C>G (p.Thr275Arg) single nucleotide variant not provided [RCV002047327] Chr15:28016170 [GRCh38]
Chr15:28261316 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464210]|not provided [RCV001878104] Chr15:28022516 [GRCh38]
Chr15:28267662 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1048G>A (p.Val350Met) single nucleotide variant not provided [RCV001957109] Chr15:27990644 [GRCh38]
Chr15:28235790 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1985T>A (p.Leu662Gln) single nucleotide variant not provided [RCV001980296] Chr15:27926221 [GRCh38]
Chr15:28171367 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2282T>C (p.Val761Ala) single nucleotide variant not provided [RCV001997342] Chr15:27851438 [GRCh38]
Chr15:28096584 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.688G>T (p.Val230Leu) single nucleotide variant not provided [RCV002035273] Chr15:28018516 [GRCh38]
Chr15:28263662 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.70G>A (p.Val24Met) single nucleotide variant not provided [RCV002019161] Chr15:28081805 [GRCh38]
Chr15:28326951 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1555del (p.Val519fs) deletion OCA2-related condition [RCV003395322]|not provided [RCV001956358] Chr15:27966771 [GRCh38]
Chr15:28211917 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1355T>C (p.Val452Ala) single nucleotide variant not provided [RCV001974841] Chr15:27985073 [GRCh38]
Chr15:28230219 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1399G>A (p.Val467Ile) single nucleotide variant not provided [RCV001900059] Chr15:27983449 [GRCh38]
Chr15:28228595 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28228471)_(28228649_?)dup duplication not provided [RCV002013880] Chr15:28228471..28228649 [GRCh37]
Chr15:15q13.1
likely pathogenic
NC_000015.9:g.(?_28231713)_(28235813_?)del deletion not provided [RCV001951315] Chr15:28231713..28235813 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28200284)_(28200381_?)del deletion not provided [RCV001960756] Chr15:28200284..28200381 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1842+2T>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002274238]|not provided [RCV001956266] Chr15:27955156 [GRCh38]
Chr15:28200302 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1273A>G (p.Met425Val) single nucleotide variant not provided [RCV002033801] Chr15:27985155 [GRCh38]
Chr15:28230301 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.965A>G (p.Tyr322Cys) single nucleotide variant not provided [RCV001904976] Chr15:28014855 [GRCh38]
Chr15:28260001 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1717C>T (p.Arg573Cys) single nucleotide variant not provided [RCV001938266] Chr15:27957655 [GRCh38]
Chr15:28202801 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.811A>G (p.Thr271Ala) single nucleotide variant not provided [RCV001952670] Chr15:28016183 [GRCh38]
Chr15:28261329 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1138G>C (p.Val380Leu) single nucleotide variant not provided [RCV001882015] Chr15:27989645 [GRCh38]
Chr15:28234791 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2373C>G (p.Val791=) single nucleotide variant not provided [RCV002034428] Chr15:27845018 [GRCh38]
Chr15:28090164 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV001923921] Chr15:28018410 [GRCh38]
Chr15:28263556 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.649G>C (p.Val217Leu) single nucleotide variant not provided [RCV001996759] Chr15:28018555 [GRCh38]
Chr15:28263701 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28228471)_(28228649_?)del deletion not provided [RCV001939376] Chr15:28228471..28228649 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) deletion Tyrosinase-positive oculocutaneous albinism [RCV003452160]|not provided [RCV001938159] Chr15:28014870 [GRCh38]
Chr15:28260016 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1183A>T (p.Met395Leu) single nucleotide variant not provided [RCV001961413] Chr15:27986643 [GRCh38]
Chr15:28231789 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002503488]|not provided [RCV001905699] Chr15:28081834 [GRCh38]
Chr15:28326980 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.74_78del (p.Pro25fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464297]|not provided [RCV001939435] Chr15:28081797..28081801 [GRCh38]
Chr15:28326943..28326947 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.274del (p.Ser92fs) deletion not provided [RCV001939609] Chr15:28032117 [GRCh38]
Chr15:28277263 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2060C>T (p.Ala687Val) single nucleotide variant not provided [RCV001998656] Chr15:27926146 [GRCh38]
Chr15:28171292 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1612A>G (p.Asn538Asp) single nucleotide variant not provided [RCV001998880] Chr15:27966714 [GRCh38]
Chr15:28211860 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1246C>T (p.Arg416Trp) single nucleotide variant not provided [RCV002019686] Chr15:27985182 [GRCh38]
Chr15:28230328 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2245-1G>A single nucleotide variant not provided [RCV002036545] Chr15:27851476 [GRCh38]
Chr15:28096622 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1183-6C>A single nucleotide variant not provided [RCV001924452] Chr15:27986649 [GRCh38]
Chr15:28231795 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.637G>A (p.Glu213Lys) single nucleotide variant not provided [RCV001906173] Chr15:28022510 [GRCh38]
Chr15:28267656 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2403A>G (p.Gly801=) single nucleotide variant not provided [RCV001876354] Chr15:27844988 [GRCh38]
Chr15:28090134 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2245-11T>C single nucleotide variant not provided [RCV001998949] Chr15:27851486 [GRCh38]
Chr15:28096632 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) deletion not provided [RCV001950873] Chr15:27990630..27990636 [GRCh38]
Chr15:28235776..28235782 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.107G>T (p.Arg36Leu) single nucleotide variant not provided [RCV002010726] Chr15:28081768 [GRCh38]
Chr15:28326914 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002049748]|not provided [RCV002543442] Chr15:27983404 [GRCh38]
Chr15:28228550 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.647C>T (p.Ser216Phe) single nucleotide variant not provided [RCV002032989] Chr15:28018557 [GRCh38]
Chr15:28263703 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.517C>T (p.Arg173Cys) single nucleotide variant not provided [RCV001917787] Chr15:28024901 [GRCh38]
Chr15:28270047 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1633G>A (p.Val545Ile) single nucleotide variant not provided [RCV002028214] Chr15:27966693 [GRCh38]
Chr15:28211839 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.971G>A (p.Arg324His) single nucleotide variant not provided [RCV002009798] Chr15:28014849 [GRCh38]
Chr15:28259995 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471115]|Tyrosinase-positive oculocutaneous albinism [RCV003128278]|not provided [RCV001993111] Chr15:27990616 [GRCh38]
Chr15:28235762 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002503565]|not provided [RCV001937908] Chr15:27957709 [GRCh38]
Chr15:28202855 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1718G>A (p.Arg573His) single nucleotide variant not provided [RCV001994012] Chr15:27957654 [GRCh38]
Chr15:28202800 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2123C>A (p.Thr708Asn) single nucleotide variant not provided [RCV002046569] Chr15:27871879 [GRCh38]
Chr15:28117025 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1534A>G (p.Met512Val) single nucleotide variant not provided [RCV002012957] Chr15:27966792 [GRCh38]
Chr15:28211938 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.371A>C (p.Glu124Ala) single nucleotide variant not provided [RCV001976206] Chr15:28028015 [GRCh38]
Chr15:28273161 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.824C>T (p.Thr275Met) single nucleotide variant not provided [RCV001903246] Chr15:28016170 [GRCh38]
Chr15:28261316 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1647C>T (p.His549=) single nucleotide variant not provided [RCV002105432] Chr15:27957725 [GRCh38]
Chr15:28202871 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1116+7del deletion not provided [RCV002146642] Chr15:27990569 [GRCh38]
Chr15:28235715 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.891-6C>T single nucleotide variant not provided [RCV002208529] Chr15:28014935 [GRCh38]
Chr15:28260081 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.722C>T (p.Pro241Leu) single nucleotide variant not provided [RCV002090789] Chr15:28018482 [GRCh38]
Chr15:28263628 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.498C>T (p.Leu166=) single nucleotide variant not provided [RCV002147332] Chr15:28027888 [GRCh38]
Chr15:28273034 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.107G>A (p.Arg36His) single nucleotide variant not provided [RCV002189060] Chr15:28081768 [GRCh38]
Chr15:28326914 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.885G>C (p.Leu295=) single nucleotide variant not provided [RCV002087633] Chr15:28016109 [GRCh38]
Chr15:28261255 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1518C>T (p.Ala506=) single nucleotide variant not provided [RCV002208951] Chr15:27966808 [GRCh38]
Chr15:28211954 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.797G>A (p.Arg266Gln) single nucleotide variant not provided [RCV002165348] Chr15:28018407 [GRCh38]
Chr15:28263553 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1458C>T (p.Asp486=) single nucleotide variant not provided [RCV002170142] Chr15:27983390 [GRCh38]
Chr15:28228536 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1452C>T (p.Ile484=) single nucleotide variant not provided [RCV002089207] Chr15:27983396 [GRCh38]
Chr15:28228542 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.486G>T (p.Pro162=) single nucleotide variant not provided [RCV002145662] Chr15:28027900 [GRCh38]
Chr15:28273046 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.774C>T (p.Asp258=) single nucleotide variant not provided [RCV002110935] Chr15:28018430 [GRCh38]
Chr15:28263576 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2245-18T>C single nucleotide variant not provided [RCV002167813] Chr15:27851493 [GRCh38]
Chr15:28096639 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.808-15C>T single nucleotide variant not provided [RCV002169764] Chr15:28016201 [GRCh38]
Chr15:28261347 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1335C>A (p.Thr445=) single nucleotide variant not provided [RCV002165370] Chr15:27985093 [GRCh38]
Chr15:28230239 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.393T>G (p.Ser131=) single nucleotide variant not provided [RCV002090197] Chr15:28027993 [GRCh38]
Chr15:28273139 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2196A>G (p.Ser732=) single nucleotide variant not provided [RCV002090268] Chr15:27871202 [GRCh38]
Chr15:28116348 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.748A>G (p.Ile250Val) single nucleotide variant not provided [RCV002127211] Chr15:28018456 [GRCh38]
Chr15:28263602 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1530A>G (p.Ala510=) single nucleotide variant not provided [RCV002111178] Chr15:27966796 [GRCh38]
Chr15:28211942 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1504-16C>T single nucleotide variant not provided [RCV002148342] Chr15:27966838 [GRCh38]
Chr15:28211984 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg) single nucleotide variant not provided [RCV002225972] Chr15:27926171 [GRCh38]
Chr15:28171317 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1637-16C>G single nucleotide variant not provided [RCV002087248] Chr15:27957751 [GRCh38]
Chr15:28202897 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.574-17_574-3del deletion not provided [RCV002210108] Chr15:28022576..28022590 [GRCh38]
Chr15:28267722..28267736 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2245-8C>G single nucleotide variant not provided [RCV002210728] Chr15:27851483 [GRCh38]
Chr15:28096629 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1881G>A (p.Leu627=) single nucleotide variant not provided [RCV002075733] Chr15:27951854 [GRCh38]
Chr15:28197000 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1482C>T (p.Ser494=) single nucleotide variant not provided [RCV002152363] Chr15:27983366 [GRCh38]
Chr15:28228512 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1637-18G>A single nucleotide variant not provided [RCV002196122] Chr15:27957753 [GRCh38]
Chr15:28202899 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV002127489] Chr15:28018526 [GRCh38]
Chr15:28263672 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2061G>A (p.Ala687=) single nucleotide variant not provided [RCV002112896] Chr15:27926145 [GRCh38]
Chr15:28171291 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.897G>A (p.Thr299=) single nucleotide variant not provided [RCV002132883] Chr15:28014923 [GRCh38]
Chr15:28260069 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.891-11T>C single nucleotide variant not provided [RCV002096841] Chr15:28014940 [GRCh38]
Chr15:28260086 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2385G>A (p.Gly795=) single nucleotide variant not provided [RCV002153723] Chr15:27845006 [GRCh38]
Chr15:28090152 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1364+18G>T single nucleotide variant not provided [RCV002093237] Chr15:27985046 [GRCh38]
Chr15:28230192 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2301G>T (p.Pro767=) single nucleotide variant not provided [RCV002193947] Chr15:27851419 [GRCh38]
Chr15:28096565 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.598C>G (p.Gln200Glu) single nucleotide variant not provided [RCV002172263] Chr15:28022549 [GRCh38]
Chr15:28267695 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2250C>T (p.Pro750=) single nucleotide variant not provided [RCV002134560] Chr15:27851470 [GRCh38]
Chr15:28096616 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1014C>T (p.Leu338=) single nucleotide variant not provided [RCV002173927] Chr15:28014806 [GRCh38]
Chr15:28259952 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2502G>T (p.Val834=) single nucleotide variant not provided [RCV002167759] Chr15:27755403 [GRCh38]
Chr15:28000549 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.1221C>T (p.Phe407=) single nucleotide variant not provided [RCV002093862] Chr15:27986605 [GRCh38]
Chr15:28231751 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1183-5_1183-4inv inversion not provided [RCV002115101] Chr15:27986647..27986648 [GRCh38]
Chr15:28231793..28231794 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.516-15C>T single nucleotide variant not provided [RCV002213167] Chr15:28024917 [GRCh38]
Chr15:28270063 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1350G>A (p.Thr450=) single nucleotide variant not provided [RCV002146950] Chr15:27985078 [GRCh38]
Chr15:28230224 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1527T>C (p.Thr509=) single nucleotide variant not provided [RCV002077109] Chr15:27966799 [GRCh38]
Chr15:28211945 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2139+9A>G single nucleotide variant not provided [RCV002149423] Chr15:27871854 [GRCh38]
Chr15:28117000 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.459C>T (p.Ser153=) single nucleotide variant not provided [RCV002094624] Chr15:28027927 [GRCh38]
Chr15:28273073 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.21C>T (p.Asp7=) single nucleotide variant not provided [RCV002086686] Chr15:28081854 [GRCh38]
Chr15:28327000 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.540C>T (p.Val180=) single nucleotide variant not provided [RCV002209642] Chr15:28024878 [GRCh38]
Chr15:28270024 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1240-14G>A single nucleotide variant not provided [RCV002196077] Chr15:27985202 [GRCh38]
Chr15:28230348 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1455G>A (p.Gly485=) single nucleotide variant not provided [RCV002206654] Chr15:27983393 [GRCh38]
Chr15:28228539 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1743A>C (p.Ala581=) single nucleotide variant not provided [RCV002147903] Chr15:27957629 [GRCh38]
Chr15:28202775 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.111G>A (p.Arg37=) single nucleotide variant not provided [RCV002151803] Chr15:28081764 [GRCh38]
Chr15:28326910 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.492C>T (p.Ile164=) single nucleotide variant not provided [RCV002194333] Chr15:28027894 [GRCh38]
Chr15:28273040 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2205G>A (p.Ala735=) single nucleotide variant not provided [RCV002215254] Chr15:27871193 [GRCh38]
Chr15:28116339 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.390C>T (p.Ser130=) single nucleotide variant not provided [RCV002166164] Chr15:28027996 [GRCh38]
Chr15:28273142 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1401C>A (p.Val467=) single nucleotide variant not provided [RCV002208480] Chr15:27983447 [GRCh38]
Chr15:28228593 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1503+9C>A single nucleotide variant not provided [RCV002109965] Chr15:27983336 [GRCh38]
Chr15:28228482 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.914G>A (p.Arg305Gln) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003339923]|not provided [RCV002093618] Chr15:28014906 [GRCh38]
Chr15:28260052 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.2292C>T (p.Pro764=) single nucleotide variant not provided [RCV002078382] Chr15:27851428 [GRCh38]
Chr15:28096574 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.69C>T (p.Ser23=) single nucleotide variant not provided [RCV002195636] Chr15:28081806 [GRCh38]
Chr15:28326952 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1364+20C>T single nucleotide variant not provided [RCV002116582] Chr15:27985044 [GRCh38]
Chr15:28230190 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1503+14del deletion not provided [RCV002210118] Chr15:27983331 [GRCh38]
Chr15:28228477 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.44C>T (p.Pro15Leu) single nucleotide variant not provided [RCV002169518] Chr15:28081831 [GRCh38]
Chr15:28326977 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.546C>A (p.Gly182=) single nucleotide variant not provided [RCV002153171] Chr15:28024872 [GRCh38]
Chr15:28270018 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1240-9T>C single nucleotide variant not provided [RCV002165198] Chr15:27985197 [GRCh38]
Chr15:28230343 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1045-7T>C single nucleotide variant not provided [RCV002212288] Chr15:27990654 [GRCh38]
Chr15:28235800 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2289G>T (p.Leu763=) single nucleotide variant not provided [RCV002114183] Chr15:27851431 [GRCh38]
Chr15:28096577 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.99C>T (p.Ala33=) single nucleotide variant not provided [RCV002075504] Chr15:28081776 [GRCh38]
Chr15:28326922 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.647-9C>T single nucleotide variant not provided [RCV002151997] Chr15:28018566 [GRCh38]
Chr15:28263712 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1952-18C>A single nucleotide variant not provided [RCV002131761] Chr15:27926272 [GRCh38]
Chr15:28171418 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2338+13dup duplication not provided [RCV002195814] Chr15:27851368..27851369 [GRCh38]
Chr15:28096514..28096515 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2080-19C>A single nucleotide variant not provided [RCV002077956] Chr15:27871941 [GRCh38]
Chr15:28117087 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1843-15G>A single nucleotide variant not provided [RCV002194555] Chr15:27951907 [GRCh38]
Chr15:28197053 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.515+10C>G single nucleotide variant not provided [RCV002157501] Chr15:28027861 [GRCh38]
Chr15:28273007 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1784+9C>A single nucleotide variant not provided [RCV002203139] Chr15:27957579 [GRCh38]
Chr15:28202725 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1044+13C>T single nucleotide variant not provided [RCV002202778] Chr15:28014763 [GRCh38]
Chr15:28259909 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.573+19C>G single nucleotide variant not provided [RCV002201424] Chr15:28024826 [GRCh38]
Chr15:28269972 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1952-16A>C single nucleotide variant not provided [RCV002083034] Chr15:27926270 [GRCh38]
Chr15:28171416 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2497G>A (p.Val833Met) single nucleotide variant not provided [RCV002104249] Chr15:27755408 [GRCh38]
Chr15:28000554 [GRCh37]
Chr15:15q12
benign
NM_000275.3(OCA2):c.963G>A (p.Gln321=) single nucleotide variant not provided [RCV002156195] Chr15:28014857 [GRCh38]
Chr15:28260003 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1758C>T (p.Leu586=) single nucleotide variant not provided [RCV002139420] Chr15:27957614 [GRCh38]
Chr15:28202760 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1785-17C>T single nucleotide variant not provided [RCV002136312] Chr15:27955232 [GRCh38]
Chr15:28200378 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2271C>T (p.His757=) single nucleotide variant not provided [RCV002159061] Chr15:27851449 [GRCh38]
Chr15:28096595 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1784+15C>T single nucleotide variant not provided [RCV002153910] Chr15:27957573 [GRCh38]
Chr15:28202719 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2109T>C (p.Tyr703=) single nucleotide variant not provided [RCV002182812] Chr15:27871893 [GRCh38]
Chr15:28117039 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.69C>G (p.Ser23=) single nucleotide variant not provided [RCV002142816] Chr15:28081806 [GRCh38]
Chr15:28326952 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1599C>T (p.Asn533=) single nucleotide variant not provided [RCV002175604] Chr15:27966727 [GRCh38]
Chr15:28211873 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.500G>A (p.Arg167His) single nucleotide variant not provided [RCV002154231] Chr15:28027886 [GRCh38]
Chr15:28273032 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.36C>T (p.Pro12=) single nucleotide variant not provided [RCV002117887] Chr15:28081839 [GRCh38]
Chr15:28326985 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.807+10A>T single nucleotide variant not provided [RCV002160163] Chr15:28018387 [GRCh38]
Chr15:28263533 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.759G>A (p.Glu253=) single nucleotide variant not provided [RCV002084066] Chr15:28018445 [GRCh38]
Chr15:28263591 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1519G>A (p.Gly507Arg) single nucleotide variant not provided [RCV002143552] Chr15:27966807 [GRCh38]
Chr15:28211953 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2514T>C (p.Asn838=) single nucleotide variant not provided [RCV002200690] Chr15:27755391 [GRCh38]
Chr15:28000537 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.1302C>T (p.Ala434=) single nucleotide variant not provided [RCV002204607] Chr15:27985126 [GRCh38]
Chr15:28230272 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.459C>G (p.Ser153=) single nucleotide variant not provided [RCV002164291] Chr15:28027927 [GRCh38]
Chr15:28273073 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.574-13C>T single nucleotide variant not provided [RCV002084465] Chr15:28022586 [GRCh38]
Chr15:28267732 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.515+8G>A single nucleotide variant not provided [RCV002082627] Chr15:28027863 [GRCh38]
Chr15:28273009 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.891-11T>G single nucleotide variant not provided [RCV002164421] Chr15:28014940 [GRCh38]
Chr15:28260086 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1374G>A (p.Glu458=) single nucleotide variant not provided [RCV002122964] Chr15:27983474 [GRCh38]
Chr15:28228620 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2245-6C>T single nucleotide variant not provided [RCV002182703] Chr15:27851481 [GRCh38]
Chr15:28096627 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.326+13C>T single nucleotide variant not provided [RCV002201905] Chr15:28032052 [GRCh38]
Chr15:28277198 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1951+15G>A single nucleotide variant not provided [RCV002140918] Chr15:27951769 [GRCh38]
Chr15:28196915 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.58C>T (p.Leu20=) single nucleotide variant not provided [RCV002203440] Chr15:28081817 [GRCh38]
Chr15:28326963 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.84C>T (p.Leu28=) single nucleotide variant not provided [RCV002199189] Chr15:28081791 [GRCh38]
Chr15:28326937 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1761C>T (p.Ala587=) single nucleotide variant not provided [RCV002199323] Chr15:27957611 [GRCh38]
Chr15:28202757 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1785-14_1785-12del microsatellite not provided [RCV002101493] Chr15:27955227..27955229 [GRCh38]
Chr15:28200373..28200375 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1182+18C>T single nucleotide variant not provided [RCV002121436] Chr15:27989583 [GRCh38]
Chr15:28234729 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.750C>T (p.Ile250=) single nucleotide variant not provided [RCV002201682] Chr15:28018454 [GRCh38]
Chr15:28263600 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1182+19G>A single nucleotide variant not provided [RCV002135691] Chr15:27989582 [GRCh38]
Chr15:28234728 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1281C>T (p.Ile427=) single nucleotide variant not provided [RCV002159327] Chr15:27985147 [GRCh38]
Chr15:28230293 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1050G>T (p.Val350=) single nucleotide variant not provided [RCV002161932] Chr15:27990642 [GRCh38]
Chr15:28235788 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2331C>T (p.Cys777=) single nucleotide variant not provided [RCV002123171] Chr15:27851389 [GRCh38]
Chr15:28096535 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.40G>A (p.Ala14Thr) single nucleotide variant Inborn genetic diseases [RCV003161657]|not provided [RCV002175641] Chr15:28081835 [GRCh38]
Chr15:28326981 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2058A>T (p.Ala686=) single nucleotide variant not provided [RCV002098955] Chr15:27926148 [GRCh38]
Chr15:28171294 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1182+18C>G single nucleotide variant not provided [RCV002140163] Chr15:27989583 [GRCh38]
Chr15:28234729 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2031G>A (p.Val677=) single nucleotide variant not provided [RCV002138843] Chr15:27926175 [GRCh38]
Chr15:28171321 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2073G>A (p.Leu691=) single nucleotide variant not provided [RCV002180156] Chr15:27926133 [GRCh38]
Chr15:28171279 [GRCh37]
Chr15:15q13.1
likely benign
NC_000015.9:g.(?_28234727)_(28234832_?)del deletion not provided [RCV003109320] Chr15:28234727..28234832 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28211816)_(28211988_?)del deletion not provided [RCV003109321] Chr15:28211816..28211988 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28090085)_(28096641_?)del deletion not provided [RCV003109322] Chr15:28090085..28096641 [GRCh37]
Chr15:15q12
pathogenic
NC_000015.9:g.(?_28235702)_(28277329_?)del deletion not provided [RCV003109323] Chr15:28235702..28277329 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28171253)_(28277329_?)del deletion not provided [RCV003109324] Chr15:28171253..28277329 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28171253)_(28171420_?)dup duplication not provided [RCV003109325] Chr15:28171253..28171420 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28326774)_(28327020_?)dup duplication not provided [RCV003109326] Chr15:28326774..28327020 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28267627)_(28391510_?)dup duplication not provided [RCV003109327] Chr15:28267627..28391510 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28171253)_(28277329_?)dup duplication not provided [RCV003109328] Chr15:28171253..28277329 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28090085)_(28277329_?)dup duplication not provided [RCV003109329] Chr15:28090085..28277329 [GRCh37]
Chr15:15q12-13.1
likely pathogenic
NC_000015.9:g.(?_28259902)_(28261352_?)dup duplication not provided [RCV003109330] Chr15:28259902..28261352 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2446A>G (p.Met816Val) single nucleotide variant Inborn genetic diseases [RCV003162153]|not provided [RCV003112443] Chr15:27755459 [GRCh38]
Chr15:28000605 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.42G>A (p.Ala14=) single nucleotide variant not provided [RCV003115860] Chr15:28081833 [GRCh38]
Chr15:28326979 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.39C>T (p.Gly13=) single nucleotide variant not provided [RCV003116137] Chr15:28081836 [GRCh38]
Chr15:28326982 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1865T>C (p.Leu622Pro) single nucleotide variant not provided [RCV003112303] Chr15:27951870 [GRCh38]
Chr15:28197016 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1004C>T (p.Thr335Met) single nucleotide variant not provided [RCV003122005] Chr15:28014816 [GRCh38]
Chr15:28259962 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128362] Chr15:27983367 [GRCh38]
Chr15:28228513 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1116+6T>C single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128365] Chr15:27990570 [GRCh38]
Chr15:28235716 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1045-10T>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128358] Chr15:27990657 [GRCh38]
Chr15:28235803 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) copy number gain 15q11q13 microduplication syndrome [RCV003236743] Chr15:23684691..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.515+1G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002283622] Chr15:28027870 [GRCh38]
Chr15:28273016 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.646+1G>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002274285] Chr15:28022500 [GRCh38]
Chr15:28267646 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.605A>G (p.Lys202Arg) single nucleotide variant not provided [RCV002297015] Chr15:28022542 [GRCh38]
Chr15:28267688 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 copy number gain FETAL DEMISE [RCV002282734] Chr15:22770421..29057676 [GRCh37]
Chr15:15q11.2-13.1
uncertain significance
NM_000275.3(OCA2):c.1365-1G>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002274286] Chr15:27983484 [GRCh38]
Chr15:28228630 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2225dup (p.Phe744fs) duplication Tyrosinase-positive oculocutaneous albinism [RCV002274287] Chr15:27871172..27871173 [GRCh38]
Chr15:28116318..28116319 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.163dup (p.Ala55fs) duplication SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471310]|Tyrosinase-positive oculocutaneous albinism [RCV002283758] Chr15:28081711..28081712 [GRCh38]
Chr15:28326857..28326858 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) copy number loss Angelman syndrome [RCV002280758] Chr15:23290862..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs) duplication Tyrosinase-positive oculocutaneous albinism [RCV002290084]|not provided [RCV003101670] Chr15:27844986..27844987 [GRCh38]
Chr15:28090132..28090133 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
NM_000275.3(OCA2):c.374_375del (p.Glu125fs) microsatellite Tyrosinase-positive oculocutaneous albinism [RCV002282795]|not provided [RCV003101612] Chr15:28028011..28028012 [GRCh38]
Chr15:28273157..28273158 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 copy number loss See cases [RCV002286346] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.808-3C>G single nucleotide variant OCA2-related condition [RCV003408208]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471311]|Tyrosinase-positive oculocutaneous albinism [RCV002284014] Chr15:28016189 [GRCh38]
Chr15:28261335 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) copy number gain 15q11q13 microduplication syndrome [RCV002280725] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.660C>G (p.Ser220Arg) single nucleotide variant not provided [RCV002297487] Chr15:28018544 [GRCh38]
Chr15:28263690 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1952-7T>G single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV002284051] Chr15:27926261 [GRCh38]
Chr15:28171407 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128359] Chr15:27951861 [GRCh38]
Chr15:28197007 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 copy number loss not provided [RCV002472551] Chr15:23670891..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1248dup (p.Leu417fs) duplication Tyrosinase-positive oculocutaneous albinism [RCV002470202] Chr15:27985179..27985180 [GRCh38]
Chr15:28230325..28230326 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1253C>T (p.Ser418Phe) single nucleotide variant not provided [RCV002467167] Chr15:27985175 [GRCh38]
Chr15:28230321 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 copy number gain not provided [RCV002474488] Chr15:23615769..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 copy number loss not provided [RCV002474513] Chr15:23615769..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 copy number loss not provided [RCV002474564] Chr15:23290787..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128363] Chr15:27871913 [GRCh38]
Chr15:28117059 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128364] Chr15:27990628 [GRCh38]
Chr15:28235774 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2459C>A (p.Ser820Tyr) single nucleotide variant not provided [RCV002295026] Chr15:27755446 [GRCh38]
Chr15:28000592 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.407G>C (p.Arg136Pro) single nucleotide variant not provided [RCV002304669] Chr15:28027979 [GRCh38]
Chr15:28273125 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2226C>G (p.Ile742Met) single nucleotide variant not provided [RCV002306072] Chr15:27871172 [GRCh38]
Chr15:28116318 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.306G>T (p.Arg102Ser) single nucleotide variant not provided [RCV002296115] Chr15:28032085 [GRCh38]
Chr15:28277231 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.891-19T>C single nucleotide variant not provided [RCV002726390] Chr15:28014948 [GRCh38]
Chr15:28260094 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val) single nucleotide variant not provided [RCV002858576] Chr15:27983470 [GRCh38]
Chr15:28228616 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.765C>T (p.Thr255=) single nucleotide variant not provided [RCV002775088] Chr15:28018439 [GRCh38]
Chr15:28263585 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.904A>G (p.Ile302Val) single nucleotide variant not provided [RCV002816609] Chr15:28014916 [GRCh38]
Chr15:28260062 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1503+4C>T single nucleotide variant not provided [RCV002994998] Chr15:27983341 [GRCh38]
Chr15:28228487 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1135G>A (p.Val379Met) single nucleotide variant Inborn genetic diseases [RCV002682099] Chr15:27989648 [GRCh38]
Chr15:28234794 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.326+17del deletion not provided [RCV002685570] Chr15:28032048 [GRCh38]
Chr15:28277194 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.2140-20T>A single nucleotide variant not provided [RCV002815662] Chr15:27871278 [GRCh38]
Chr15:28116424 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 copy number gain not provided [RCV002475662] Chr15:23632678..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2338+16C>T single nucleotide variant not provided [RCV002991832] Chr15:27851366 [GRCh38]
Chr15:28096512 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.245C>G (p.Pro82Arg) single nucleotide variant not provided [RCV003032385] Chr15:28032146 [GRCh38]
Chr15:28277292 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1064_1065delinsTA (p.Ala355Val) indel not provided [RCV002842660] Chr15:27990627..27990628 [GRCh38]
Chr15:28235773..28235774 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1086AGCACTGGC[3] (p.Ala368_Val369insAlaLeuAla) microsatellite not provided [RCV003016979] Chr15:27990588..27990589 [GRCh38]
Chr15:28235734..28235735 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1752C>G (p.His584Gln) single nucleotide variant not provided [RCV002819073] Chr15:27957620 [GRCh38]
Chr15:28202766 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.84C>A (p.Leu28=) single nucleotide variant not provided [RCV003016549] Chr15:28081791 [GRCh38]
Chr15:28326937 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr) single nucleotide variant not provided [RCV002775144] Chr15:27957613 [GRCh38]
Chr15:28202759 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1603A>G (p.Lys535Glu) single nucleotide variant not provided [RCV002996337] Chr15:27966723 [GRCh38]
Chr15:28211869 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1029G>A (p.Ala343=) single nucleotide variant not provided [RCV003016606] Chr15:28014791 [GRCh38]
Chr15:28259937 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2059G>A (p.Ala687Thr) single nucleotide variant not provided [RCV002636083] Chr15:27926147 [GRCh38]
Chr15:28171293 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2069T>C (p.Val690Ala) single nucleotide variant not provided [RCV002636042] Chr15:27926137 [GRCh38]
Chr15:28171283 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2255T>C (p.Leu752Pro) single nucleotide variant not provided [RCV003034606] Chr15:27851465 [GRCh38]
Chr15:28096611 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.966C>A (p.Tyr322Ter) single nucleotide variant not provided [RCV003034607] Chr15:28014854 [GRCh38]
Chr15:28260000 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.883C>T (p.Leu295=) single nucleotide variant not provided [RCV003013794] Chr15:28016111 [GRCh38]
Chr15:28261257 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1027G>C (p.Ala343Pro) single nucleotide variant not provided [RCV002616833] Chr15:28014793 [GRCh38]
Chr15:28259939 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2430C>T (p.Phe810=) single nucleotide variant not provided [RCV002839018] Chr15:27844961 [GRCh38]
Chr15:28090107 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1892G>C (p.Gly631Ala) single nucleotide variant not provided [RCV002815794] Chr15:27951843 [GRCh38]
Chr15:28196989 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.808-4A>G single nucleotide variant not provided [RCV002755371] Chr15:28016190 [GRCh38]
Chr15:28261336 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.891-9G>A single nucleotide variant not provided [RCV002681534] Chr15:28014938 [GRCh38]
Chr15:28260084 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.525G>A (p.Val175=) single nucleotide variant not provided [RCV003073701] Chr15:28024893 [GRCh38]
Chr15:28270039 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn) single nucleotide variant not provided [RCV002861944] Chr15:27983430 [GRCh38]
Chr15:28228576 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.326+17C>T single nucleotide variant not provided [RCV002816280] Chr15:28032048 [GRCh38]
Chr15:28277194 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2414C>G (p.Ser805Cys) single nucleotide variant not provided [RCV002613913] Chr15:27844977 [GRCh38]
Chr15:28090123 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1174T>C (p.Phe392Leu) single nucleotide variant not provided [RCV002815486] Chr15:27989609 [GRCh38]
Chr15:28234755 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 copy number loss not provided [RCV002511814] Chr15:23684645..28566612 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 copy number loss not provided [RCV002511813] Chr15:22833525..28544662 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.1184T>C (p.Met395Thr) single nucleotide variant not provided [RCV003016438] Chr15:27986642 [GRCh38]
Chr15:28231788 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.633G>A (p.Pro211=) single nucleotide variant not provided [RCV002613430] Chr15:28022514 [GRCh38]
Chr15:28267660 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1697G>A (p.Arg566His) single nucleotide variant not provided [RCV002996056] Chr15:27957675 [GRCh38]
Chr15:28202821 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1504-18C>T single nucleotide variant not provided [RCV002972093] Chr15:27966840 [GRCh38]
Chr15:28211986 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2245-19A>G single nucleotide variant not provided [RCV002681312] Chr15:27851494 [GRCh38]
Chr15:28096640 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.516-3C>A single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128360] Chr15:28024905 [GRCh38]
Chr15:28270051 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128361] Chr15:27957594 [GRCh38]
Chr15:28202740 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2433-14T>G single nucleotide variant not provided [RCV002858732] Chr15:27755486 [GRCh38]
Chr15:28000632 [GRCh37]
Chr15:15q12
likely pathogenic
NM_000275.3(OCA2):c.537A>G (p.Lys179=) single nucleotide variant not provided [RCV002755714] Chr15:28024881 [GRCh38]
Chr15:28270027 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.227G>A (p.Arg76Lys) single nucleotide variant not provided [RCV002861434] Chr15:28081648 [GRCh38]
Chr15:28326794 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 copy number gain not provided [RCV002475533] Chr15:23620192..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2370C>T (p.Asn790=) single nucleotide variant not provided [RCV002996011] Chr15:27845021 [GRCh38]
Chr15:28090167 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1712T>C (p.Val571Ala) single nucleotide variant not provided [RCV002952932] Chr15:27957660 [GRCh38]
Chr15:28202806 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.647-12_647-1del deletion not provided [RCV002976055] Chr15:28018558..28018569 [GRCh38]
Chr15:28263704..28263715 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2298G>T (p.Pro766=) single nucleotide variant not provided [RCV002847300] Chr15:27851422 [GRCh38]
Chr15:28096568 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.705C>T (p.Ala235=) single nucleotide variant not provided [RCV002621531] Chr15:28018499 [GRCh38]
Chr15:28263645 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.731del (p.Pro244fs) deletion not provided [RCV002889865] Chr15:28018473 [GRCh38]
Chr15:28263619 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1247G>A (p.Arg416Gln) single nucleotide variant not provided [RCV002740463] Chr15:27985181 [GRCh38]
Chr15:28230327 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2242A>G (p.Met748Val) single nucleotide variant not provided [RCV002740359] Chr15:27871156 [GRCh38]
Chr15:28116302 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1919A>G (p.Asn640Ser) single nucleotide variant not provided [RCV002885753] Chr15:27951816 [GRCh38]
Chr15:28196962 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2432+19del deletion not provided [RCV002847766] Chr15:27844940 [GRCh38]
Chr15:28090086 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.757G>A (p.Glu253Lys) single nucleotide variant not provided [RCV002622877] Chr15:28018447 [GRCh38]
Chr15:28263593 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.168C>T (p.Ala56=) single nucleotide variant not provided [RCV002949213] Chr15:28081707 [GRCh38]
Chr15:28326853 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.976A>G (p.Ser326Gly) single nucleotide variant not provided [RCV002820478] Chr15:28014844 [GRCh38]
Chr15:28259990 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2278G>A (p.Glu760Lys) single nucleotide variant not provided [RCV002690745] Chr15:27851442 [GRCh38]
Chr15:28096588 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1321G>A (p.Asp441Asn) single nucleotide variant not provided [RCV002847291] Chr15:27985107 [GRCh38]
Chr15:28230253 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1638A>G (p.Glu546=) single nucleotide variant not provided [RCV003100347] Chr15:27957734 [GRCh38]
Chr15:28202880 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2338+18G>A single nucleotide variant not provided [RCV002691182] Chr15:27851364 [GRCh38]
Chr15:28096510 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.890+10C>T single nucleotide variant not provided [RCV002694908] Chr15:28016094 [GRCh38]
Chr15:28261240 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2373C>T (p.Val791=) single nucleotide variant not provided [RCV002705344] Chr15:27845018 [GRCh38]
Chr15:28090164 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1]) microsatellite Tyrosinase-positive oculocutaneous albinism [RCV003128325]|not provided [RCV003079184] Chr15:27990589..27990597 [GRCh38]
Chr15:28235735..28235743 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.1213G>A (p.Gly405Arg) single nucleotide variant not provided [RCV002590369] Chr15:27986613 [GRCh38]
Chr15:28231759 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.894G>C (p.Glu298Asp) single nucleotide variant not provided [RCV003020052] Chr15:28014926 [GRCh38]
Chr15:28260072 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2475G>A (p.Met825Ile) single nucleotide variant not provided [RCV003039044] Chr15:27755430 [GRCh38]
Chr15:28000576 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1158G>T (p.Glu386Asp) single nucleotide variant not provided [RCV003038491] Chr15:27989625 [GRCh38]
Chr15:28234771 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1584A>G (p.Arg528=) single nucleotide variant not provided [RCV002871009] Chr15:27966742 [GRCh38]
Chr15:28211888 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1255C>G (p.Arg419Gly) single nucleotide variant not provided [RCV002622151] Chr15:27985173 [GRCh38]
Chr15:28230319 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1161G>A (p.Thr387=) single nucleotide variant not provided [RCV002949290] Chr15:27989622 [GRCh38]
Chr15:28234768 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.677C>T (p.Thr226Met) single nucleotide variant not provided [RCV002619267] Chr15:28018527 [GRCh38]
Chr15:28263673 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.197A>G (p.Gln66Arg) single nucleotide variant Inborn genetic diseases [RCV002706703]|not provided [RCV002715729] Chr15:28081678 [GRCh38]
Chr15:28326824 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.891-2A>G single nucleotide variant not provided [RCV002979872] Chr15:28014931 [GRCh38]
Chr15:28260077 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1888T>A (p.Leu630Met) single nucleotide variant Inborn genetic diseases [RCV002887856] Chr15:27951847 [GRCh38]
Chr15:28196993 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.205G>A (p.Ala69Thr) single nucleotide variant not provided [RCV002659162] Chr15:28081670 [GRCh38]
Chr15:28326816 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter) single nucleotide variant not provided [RCV003079183] Chr15:27755424 [GRCh38]
Chr15:28000570 [GRCh37]
Chr15:15q12
likely pathogenic
NM_000275.3(OCA2):c.1045-5del deletion not provided [RCV002847893] Chr15:27990652 [GRCh38]
Chr15:28235798 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys) single nucleotide variant not provided [RCV002979353] Chr15:27966734 [GRCh38]
Chr15:28211880 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2311G>T (p.Ala771Ser) single nucleotide variant not provided [RCV002590825] Chr15:27851409 [GRCh38]
Chr15:28096555 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1637-3C>A single nucleotide variant not provided [RCV002824637] Chr15:27957738 [GRCh38]
Chr15:28202884 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1743A>T (p.Ala581=) single nucleotide variant not provided [RCV003006137] Chr15:27957629 [GRCh38]
Chr15:28202775 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1488A>T (p.Gln496His) single nucleotide variant not provided [RCV002626580] Chr15:27983360 [GRCh38]
Chr15:28228506 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1745T>C (p.Leu582Pro) single nucleotide variant not provided [RCV002627237] Chr15:27957627 [GRCh38]
Chr15:28202773 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.761T>G (p.Leu254Arg) single nucleotide variant OCA2-related condition [RCV003434506]|not provided [RCV002711810] Chr15:28018443 [GRCh38]
Chr15:28263589 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2271C>G (p.His757Gln) single nucleotide variant not provided [RCV002666969] Chr15:27851449 [GRCh38]
Chr15:28096595 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2259G>A (p.Leu753=) single nucleotide variant not provided [RCV002766925] Chr15:27851461 [GRCh38]
Chr15:28096607 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1811G>A (p.Trp604Ter) single nucleotide variant not provided [RCV002876793] Chr15:27955189 [GRCh38]
Chr15:28200335 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys) single nucleotide variant OCA2-related condition [RCV003418720]|not provided [RCV003058452] Chr15:27926155 [GRCh38]
Chr15:28171301 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.28C>T (p.Arg10Trp) single nucleotide variant not provided [RCV003041217] Chr15:28081847 [GRCh38]
Chr15:28326993 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.979G>A (p.Val327Ile) single nucleotide variant Inborn genetic diseases [RCV002581100]|not provided [RCV002596496] Chr15:28014841 [GRCh38]
Chr15:28259987 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_000275.3(OCA2):c.2094C>T (p.Leu698=) single nucleotide variant not provided [RCV003005706] Chr15:27871908 [GRCh38]
Chr15:28117054 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2062C>T (p.Leu688Phe) single nucleotide variant not provided [RCV003041215] Chr15:27926144 [GRCh38]
Chr15:28171290 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter) single nucleotide variant OCA2-related condition [RCV003395573]|not provided [RCV003041216] Chr15:28081703 [GRCh38]
Chr15:28326849 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1504-15C>T single nucleotide variant not provided [RCV002786522] Chr15:27966837 [GRCh38]
Chr15:28211983 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2338+18G>C single nucleotide variant not provided [RCV002574799] Chr15:27851364 [GRCh38]
Chr15:28096510 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.485C>T (p.Pro162Leu) single nucleotide variant not provided [RCV002825770] Chr15:28027901 [GRCh38]
Chr15:28273047 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1306C>G (p.Leu436Val) single nucleotide variant not provided [RCV002917332] Chr15:27985122 [GRCh38]
Chr15:28230268 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1843-19T>C single nucleotide variant not provided [RCV002625755] Chr15:27951911 [GRCh38]
Chr15:28197057 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1784+3A>G single nucleotide variant not provided [RCV002802172] Chr15:27957585 [GRCh38]
Chr15:28202731 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2177T>C (p.Val726Ala) single nucleotide variant not provided [RCV002982630] Chr15:27871221 [GRCh38]
Chr15:28116367 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1116+3A>G single nucleotide variant not provided [RCV002829198] Chr15:27990573 [GRCh38]
Chr15:28235719 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1442C>T (p.Ala481Val) single nucleotide variant Inborn genetic diseases [RCV002916755] Chr15:27983406 [GRCh38]
Chr15:28228552 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1333A>G (p.Thr445Ala) single nucleotide variant Inborn genetic diseases [RCV002665524] Chr15:27985095 [GRCh38]
Chr15:28230241 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1513T>G (p.Phe505Val) single nucleotide variant not provided [RCV002625850] Chr15:27966813 [GRCh38]
Chr15:28211959 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.515G>C (p.Arg172Thr) single nucleotide variant not provided [RCV002711934] Chr15:28027871 [GRCh38]
Chr15:28273017 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1267T>C (p.Trp423Arg) single nucleotide variant not provided [RCV003025677] Chr15:27985161 [GRCh38]
Chr15:28230307 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.326+10T>C single nucleotide variant not provided [RCV002852246] Chr15:28032055 [GRCh38]
Chr15:28277201 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.330A>G (p.Ser110=) single nucleotide variant not provided [RCV003024769] Chr15:28028056 [GRCh38]
Chr15:28273202 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.157A>T (p.Arg53Trp) single nucleotide variant not provided [RCV002624107] Chr15:28081718 [GRCh38]
Chr15:28326864 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2223C>A (p.Asn741Lys) single nucleotide variant not provided [RCV003041212] Chr15:27871175 [GRCh38]
Chr15:28116321 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.312C>T (p.Ser104=) single nucleotide variant not provided [RCV002575171] Chr15:28032079 [GRCh38]
Chr15:28277225 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1114G>A (p.Asp372Asn) single nucleotide variant not provided [RCV003082572] Chr15:27990578 [GRCh38]
Chr15:28235724 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003128321]|not provided [RCV003058449] Chr15:27755472 [GRCh38]
Chr15:28000618 [GRCh37]
Chr15:15q12
likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.1841del (p.Lys614fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459730]|not provided [RCV003058453] Chr15:27955159 [GRCh38]
Chr15:28200305 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.518G>A (p.Arg173His) single nucleotide variant not provided [RCV002596709] Chr15:28024900 [GRCh38]
Chr15:28270046 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2139+15A>G single nucleotide variant not provided [RCV002741779] Chr15:27871848 [GRCh38]
Chr15:28116994 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.483C>T (p.Ser161=) single nucleotide variant not provided [RCV003025574] Chr15:28027903 [GRCh38]
Chr15:28273049 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2211C>A (p.Ser737=) single nucleotide variant not provided [RCV002851682] Chr15:27871187 [GRCh38]
Chr15:28116333 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.455C>T (p.Ser152Phe) single nucleotide variant not provided [RCV002711078] Chr15:28027931 [GRCh38]
Chr15:28273077 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys) single nucleotide variant not provided [RCV003041213] Chr15:27871240 [GRCh38]
Chr15:28116386 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.386A>G (p.Asp129Gly) single nucleotide variant Inborn genetic diseases [RCV002985803] Chr15:28028000 [GRCh38]
Chr15:28273146 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1274T>C (p.Met425Thr) single nucleotide variant not provided [RCV002890940] Chr15:27985154 [GRCh38]
Chr15:28230300 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2370CGT[1] (p.Val792del) microsatellite not provided [RCV003058450] Chr15:27845016..27845018 [GRCh38]
Chr15:28090162..28090164 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459728]|not provided [RCV003058451] Chr15:27851397 [GRCh38]
Chr15:28096543 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala) single nucleotide variant OCA2-related condition [RCV003418721]|Oculocutaneous albinism [RCV003331419]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465926]|not provided [RCV003058454] Chr15:28032104 [GRCh38]
Chr15:28277250 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_000275.3(OCA2):c.1637-12C>G single nucleotide variant not provided [RCV003031216] Chr15:27957747 [GRCh38]
Chr15:28202893 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.815A>G (p.His272Arg) single nucleotide variant not provided [RCV002676559] Chr15:28016179 [GRCh38]
Chr15:28261325 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2389G>T (p.Ala797Ser) single nucleotide variant not provided [RCV002602906] Chr15:27845002 [GRCh38]
Chr15:28090148 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1002G>A (p.Ala334=) single nucleotide variant not provided [RCV003045061] Chr15:28014818 [GRCh38]
Chr15:28259964 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1205C>T (p.Ser402Leu) single nucleotide variant not provided [RCV003064099] Chr15:27986621 [GRCh38]
Chr15:28231767 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1763G>A (p.Arg588Gln) single nucleotide variant not provided [RCV003091791] Chr15:27957609 [GRCh38]
Chr15:28202755 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.34C>A (p.Pro12Thr) single nucleotide variant not provided [RCV002632497] Chr15:28081841 [GRCh38]
Chr15:28326987 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1784+1G>A single nucleotide variant not provided [RCV003064241] Chr15:27957587 [GRCh38]
Chr15:28202733 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1240-1G>C single nucleotide variant not provided [RCV003064243] Chr15:27985189 [GRCh38]
Chr15:28230335 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1045-2A>G single nucleotide variant not provided [RCV003064244] Chr15:27990649 [GRCh38]
Chr15:28235795 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1340T>C (p.Leu447Pro) single nucleotide variant Inborn genetic diseases [RCV002719806] Chr15:27985088 [GRCh38]
Chr15:28230234 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.825G>A (p.Thr275=) single nucleotide variant not provided [RCV002627928] Chr15:28016169 [GRCh38]
Chr15:28261315 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1547T>C (p.Ile516Thr) single nucleotide variant Inborn genetic diseases [RCV002959604] Chr15:27966779 [GRCh38]
Chr15:28211925 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.573+17C>T single nucleotide variant not provided [RCV003044792] Chr15:28024828 [GRCh38]
Chr15:28269974 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.516-16A>G single nucleotide variant not provided [RCV002579719] Chr15:28024918 [GRCh38]
Chr15:28270064 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.573+14C>G single nucleotide variant not provided [RCV002716004] Chr15:28024831 [GRCh38]
Chr15:28269977 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1842+13C>T single nucleotide variant not provided [RCV002834049] Chr15:27955145 [GRCh38]
Chr15:28200291 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1119A>G (p.Arg373=) single nucleotide variant not provided [RCV003028834] Chr15:27989664 [GRCh38]
Chr15:28234810 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1558C>T (p.Leu520Phe) single nucleotide variant not provided [RCV003043909] Chr15:27966768 [GRCh38]
Chr15:28211914 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.891-10C>T single nucleotide variant not provided [RCV002577370] Chr15:28014939 [GRCh38]
Chr15:28260085 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.515+6C>T single nucleotide variant not provided [RCV002576922] Chr15:28027865 [GRCh38]
Chr15:28273011 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2287C>T (p.Leu763=) single nucleotide variant not provided [RCV002671689] Chr15:27851433 [GRCh38]
Chr15:28096579 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2503del (p.Val835fs) deletion not provided [RCV003064238] Chr15:27755402 [GRCh38]
Chr15:28000548 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.1951+1G>A single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459729]|not provided [RCV003064240] Chr15:27951783 [GRCh38]
Chr15:28196929 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.612G>A (p.Trp204Ter) single nucleotide variant not provided [RCV003064245] Chr15:28022535 [GRCh38]
Chr15:28267681 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.808-10_808-9delinsTT indel not provided [RCV003062036] Chr15:28016195..28016196 [GRCh38]
Chr15:28261341..28261342 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2309A>G (p.Tyr770Cys) single nucleotide variant not provided [RCV003047787] Chr15:27851411 [GRCh38]
Chr15:28096557 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1906A>G (p.Met636Val) single nucleotide variant not provided [RCV002599298] Chr15:27951829 [GRCh38]
Chr15:28196975 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.891-12T>C single nucleotide variant not provided [RCV002647167] Chr15:28014941 [GRCh38]
Chr15:28260087 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1044+20C>T single nucleotide variant not provided [RCV002720379] Chr15:28014756 [GRCh38]
Chr15:28259902 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1183-19CTT[2] microsatellite not provided [RCV002833503] Chr15:27986654..27986656 [GRCh38]
Chr15:28231800..28231802 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.961C>T (p.Gln321Ter) single nucleotide variant not provided [RCV003048171] Chr15:28014859 [GRCh38]
Chr15:28260005 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1163T>C (p.Leu388Pro) single nucleotide variant not provided [RCV003048453] Chr15:27989620 [GRCh38]
Chr15:28234766 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1541T>C (p.Ile514Thr) single nucleotide variant not provided [RCV003010389] Chr15:27966785 [GRCh38]
Chr15:28211931 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.352C>A (p.Pro118Thr) single nucleotide variant not provided [RCV002962914] Chr15:28028034 [GRCh38]
Chr15:28273180 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2079+18T>C single nucleotide variant not provided [RCV002806197] Chr15:27926109 [GRCh38]
Chr15:28171255 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2159G>A (p.Arg720His) single nucleotide variant not provided [RCV003061606] Chr15:27871239 [GRCh38]
Chr15:28116385 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1556T>C (p.Val519Ala) single nucleotide variant not provided [RCV003064242] Chr15:27966770 [GRCh38]
Chr15:28211916 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1821T>C (p.Asn607=) single nucleotide variant not provided [RCV002598014] Chr15:27955179 [GRCh38]
Chr15:28200325 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.849C>T (p.Ser283=) single nucleotide variant not provided [RCV002832857] Chr15:28016145 [GRCh38]
Chr15:28261291 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1003A>G (p.Thr335Ala) single nucleotide variant not provided [RCV002649638] Chr15:28014817 [GRCh38]
Chr15:28259963 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2433-11_2433-10del deletion not provided [RCV002577769] Chr15:27755482..27755483 [GRCh38]
Chr15:28000628..28000629 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.1785A>G (p.Arg595=) single nucleotide variant not provided [RCV002631954] Chr15:27955215 [GRCh38]
Chr15:28200361 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1923G>A (p.Ser641=) single nucleotide variant not provided [RCV002676278] Chr15:27951812 [GRCh38]
Chr15:28196958 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1491G>C (p.Glu497Asp) single nucleotide variant not provided [RCV002721469] Chr15:27983357 [GRCh38]
Chr15:28228503 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.702G>C (p.Gly234=) single nucleotide variant not provided [RCV002653100] Chr15:28018502 [GRCh38]
Chr15:28263648 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.157A>G (p.Arg53Gly) single nucleotide variant not provided [RCV002653233] Chr15:28081718 [GRCh38]
Chr15:28326864 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1952-19T>G single nucleotide variant not provided [RCV003050113] Chr15:27926273 [GRCh38]
Chr15:28171419 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.255C>G (p.Ser85=) single nucleotide variant not provided [RCV002604961] Chr15:28032136 [GRCh38]
Chr15:28277282 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1965T>C (p.Ile655=) single nucleotide variant not provided [RCV002587073] Chr15:27926241 [GRCh38]
Chr15:28171387 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2043C>A (p.Thr681=) single nucleotide variant not provided [RCV002589834] Chr15:27926163 [GRCh38]
Chr15:28171309 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1626T>A (p.Ser542Arg) single nucleotide variant not provided [RCV002814645] Chr15:27966700 [GRCh38]
Chr15:28211846 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.728G>A (p.Arg243His) single nucleotide variant not provided [RCV002653288] Chr15:28018476 [GRCh38]
Chr15:28263622 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465971]|not provided [RCV002585444] Chr15:27957658 [GRCh38]
Chr15:28202804 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic|uncertain significance
NM_000275.3(OCA2):c.807+11T>C single nucleotide variant not provided [RCV002721978] Chr15:28018386 [GRCh38]
Chr15:28263532 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.226A>T (p.Arg76Trp) single nucleotide variant not provided [RCV003073467] Chr15:28081649 [GRCh38]
Chr15:28326795 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2343C>T (p.Asn781=) single nucleotide variant not provided [RCV002635072] Chr15:27845048 [GRCh38]
Chr15:28090194 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2437G>A (p.Gly813Ser) single nucleotide variant not provided [RCV002608198] Chr15:27755468 [GRCh38]
Chr15:28000614 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.326G>C (p.Gly109Ala) single nucleotide variant not provided [RCV002613125] Chr15:28032065 [GRCh38]
Chr15:28277211 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.2267G>T (p.Ser756Ile) single nucleotide variant not provided [RCV002607982] Chr15:27851453 [GRCh38]
Chr15:28096599 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.574-1G>C single nucleotide variant not provided [RCV002635390] Chr15:28022574 [GRCh38]
Chr15:28267720 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2338+9C>T single nucleotide variant not provided [RCV002609942] Chr15:27851373 [GRCh38]
Chr15:28096519 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.870G>A (p.Arg290=) single nucleotide variant not provided [RCV002589656] Chr15:28016124 [GRCh38]
Chr15:28261270 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.638A>T (p.Glu213Val) single nucleotide variant not provided [RCV002612693] Chr15:28022509 [GRCh38]
Chr15:28267655 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs) deletion Oculocutaneous albinism [RCV003155832]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466027] Chr15:27951821..27951824 [GRCh38]
Chr15:28196967..28196970 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 copy number loss not provided [RCV003222838] Chr15:23406271..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2018T>A (p.Ile673Asn) single nucleotide variant not provided [RCV003133099] Chr15:27926188 [GRCh38]
Chr15:28171334 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1061T>C (p.Leu354Pro) single nucleotide variant Inborn genetic diseases [RCV003199467] Chr15:27990631 [GRCh38]
Chr15:28235777 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly) single nucleotide variant Inborn genetic diseases [RCV003213629]|not provided [RCV003312098] Chr15:27951889 [GRCh38]
Chr15:28197035 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1243T>C (p.Tyr415His) single nucleotide variant not specified [RCV003324334] Chr15:27985185 [GRCh38]
Chr15:28230331 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.808-1_817del deletion Tyrosinase-positive oculocutaneous albinism [RCV003319596] Chr15:28016177..28016187 [GRCh38]
Chr15:28261323..28261333 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1342C>T (p.Leu448Phe) single nucleotide variant not specified [RCV003324333] Chr15:27985086 [GRCh38]
Chr15:28230232 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 copy number loss not provided [RCV003326926] Chr15:23605427..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val) single nucleotide variant not specified [RCV003331581] Chr15:27851441 [GRCh38]
Chr15:28096587 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463225] Chr15:27983422 [GRCh38]
Chr15:28228568 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1183A>G (p.Met395Val) single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003448805] Chr15:27986643 [GRCh38]
Chr15:28231789 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463221] Chr15:28027980 [GRCh38]
Chr15:28273126 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.168del (p.Gln58fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463224] Chr15:28081707 [GRCh38]
Chr15:28326853 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1204dup (p.Ser402fs) duplication SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463226] Chr15:27986621..27986622 [GRCh38]
Chr15:28231767..28231768 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1091del (p.Leu364fs) deletion not provided [RCV003873440] Chr15:27990601 [GRCh38]
Chr15:28235747 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1239+1G>T single nucleotide variant not provided [RCV003569834] Chr15:27986586 [GRCh38]
Chr15:28231732 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.706dup (p.Leu236fs) duplication SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463223] Chr15:28018497..28018498 [GRCh38]
Chr15:28263643..28263644 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1833C>G (p.Leu611=) single nucleotide variant not provided [RCV003543385] Chr15:27955167 [GRCh38]
Chr15:28200313 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2079+11A>G single nucleotide variant not provided [RCV003875395] Chr15:27926116 [GRCh38]
Chr15:28171262 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1239+2T>A single nucleotide variant not provided [RCV003571300] Chr15:27986585 [GRCh38]
Chr15:28231731 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.786C>T (p.Ser262=) single nucleotide variant not provided [RCV003543710] Chr15:28018418 [GRCh38]
Chr15:28263564 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.655_658dup (p.Ser220delinsThrTer) duplication not provided [RCV003686325] Chr15:28018545..28018546 [GRCh38]
Chr15:28263691..28263692 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1762C>A (p.Arg588=) single nucleotide variant not provided [RCV003571599] Chr15:27957610 [GRCh38]
Chr15:28202756 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.903del (p.Ile302fs) deletion not provided [RCV003570667] Chr15:28014917 [GRCh38]
Chr15:28260063 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1914C>T (p.Phe638=) single nucleotide variant not provided [RCV003570979] Chr15:27951821 [GRCh38]
Chr15:28196967 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.515+7G>A single nucleotide variant not provided [RCV003875203] Chr15:28027864 [GRCh38]
Chr15:28273010 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.515+10C>T single nucleotide variant not provided [RCV003571553] Chr15:28027861 [GRCh38]
Chr15:28273007 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs) microsatellite SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471628]|Tyrosinase-positive oculocutaneous albinism [RCV003484421] Chr15:28081698..28081699 [GRCh38]
Chr15:28326844..28326845 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1118_1119del microsatellite SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471636] Chr15:27989664..27989665 [GRCh38]
Chr15:28234810..28234811 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1677G>A (p.Gln559=) single nucleotide variant not provided [RCV003542987] Chr15:27957695 [GRCh38]
Chr15:28202841 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2301G>A (p.Pro767=) single nucleotide variant not provided [RCV003873098] Chr15:27851419 [GRCh38]
Chr15:28096565 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2361G>C (p.Ala787=) single nucleotide variant not provided [RCV003569867] Chr15:27845030 [GRCh38]
Chr15:28090176 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1239+14T>G single nucleotide variant not provided [RCV003569995] Chr15:27986573 [GRCh38]
Chr15:28231719 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1117-16T>G single nucleotide variant not provided [RCV003686170] Chr15:27989682 [GRCh38]
Chr15:28234828 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.573+14C>T single nucleotide variant not provided [RCV003686374] Chr15:28024831 [GRCh38]
Chr15:28269977 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.414C>G (p.Tyr138Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471633] Chr15:28027972 [GRCh38]
Chr15:28273118 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.891-1G>A single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471637] Chr15:28014930 [GRCh38]
Chr15:28260076 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.381G>A (p.Trp127Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471639] Chr15:28028005 [GRCh38]
Chr15:28273151 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14
pathogenic
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs) deletion OCA2-related condition [RCV003391402] Chr15:27871161..27871174 [GRCh38]
Chr15:28116307..28116320 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 copy number gain not provided [RCV003485057] Chr15:22770422..32915593 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 copy number gain not provided [RCV003485058] Chr15:22770422..29013164 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.646+3A>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471627] Chr15:28022498 [GRCh38]
Chr15:28267644 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2055dup (p.Ala686fs) duplication SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471632] Chr15:27926150..27926151 [GRCh38]
Chr15:28171296..28171297 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 copy number loss not provided [RCV003483220] Chr15:23615769..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_000275.3(OCA2):c.2327C>A (p.Ala776Asp) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463222] Chr15:27851393 [GRCh38]
Chr15:28096539 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1461del (p.Pro488fs) deletion SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471631] Chr15:27983387 [GRCh38]
Chr15:28228533 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1317C>T (p.Phe439=) single nucleotide variant not provided [RCV003393674] Chr15:27985111 [GRCh38]
Chr15:28230257 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1951+1215G>T single nucleotide variant Tyrosinase-positive oculocutaneous albinism [RCV003443472] Chr15:27950569 [GRCh38]
Chr15:28195715 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1923del (p.Phe642fs) deletion OCA2-related condition [RCV003420911] Chr15:27951812 [GRCh38]
Chr15:28196958 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1313C>A (p.Ala438Asp) single nucleotide variant OCA2-related condition [RCV003420685] Chr15:27985115 [GRCh38]
Chr15:28230261 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463219] Chr15:27985079 [GRCh38]
Chr15:28230225 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2395C>T (p.Gln799Ter) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463220] Chr15:27844996 [GRCh38]
Chr15:28090142 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs) indel OCA2-related condition [RCV003416734] Chr15:27926190..27926192 [GRCh38]
Chr15:28171336..28171338 [GRCh37]
Chr15:15q13.1
pathogenic
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_000275.3(OCA2):c.2032_2039delinsTAG (p.Glu678_Ala680delinsTer) indel OCA2-related condition [RCV003400331] Chr15:27926167..27926174 [GRCh38]
Chr15:28171313..28171320 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.2244+2T>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471629] Chr15:27871152 [GRCh38]
Chr15:28116298 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1044+1G>A single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471634] Chr15:28014775 [GRCh38]
Chr15:28259921 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471626] Chr15:27955168 [GRCh38]
Chr15:28200314 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2080-2A>T single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471638] Chr15:27871924 [GRCh38]
Chr15:28117070 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.759del (p.Glu253fs) deletion Tyrosinase-positive oculocutaneous albinism [RCV003443471] Chr15:28018445 [GRCh38]
Chr15:28263591 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1418T>G (p.Ile473Ser) single nucleotide variant not specified [RCV003388313] Chr15:27983430 [GRCh38]
Chr15:28228576 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.573+2_573+3del microsatellite not provided [RCV003688230] Chr15:28024842..28024843 [GRCh38]
Chr15:28269988..28269989 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.1182+9del deletion not provided [RCV003575198] Chr15:27989592 [GRCh38]
Chr15:28234738 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2214G>C (p.Leu738=) single nucleotide variant not provided [RCV003716001] Chr15:27871184 [GRCh38]
Chr15:28116330 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1637-17C>T single nucleotide variant not provided [RCV003574059] Chr15:27957752 [GRCh38]
Chr15:28202898 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.647-16C>G single nucleotide variant not provided [RCV003716021] Chr15:28018573 [GRCh38]
Chr15:28263719 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.516-10del deletion not provided [RCV003547508] Chr15:28024912 [GRCh38]
Chr15:28270058 [GRCh37]
Chr15:15q13.1
benign
NM_000275.3(OCA2):c.1504-17C>G single nucleotide variant not provided [RCV003661928] Chr15:27966839 [GRCh38]
Chr15:28211985 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.515+11T>G single nucleotide variant not provided [RCV003715379] Chr15:28027860 [GRCh38]
Chr15:28273006 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1951+2T>A single nucleotide variant not provided [RCV003714033] Chr15:27951782 [GRCh38]
Chr15:28196928 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.987C>G (p.Thr329=) single nucleotide variant not provided [RCV003547906] Chr15:28014833 [GRCh38]
Chr15:28259979 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.516-2A>G single nucleotide variant not provided [RCV003547908] Chr15:28024904 [GRCh38]
Chr15:28270050 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_000275.3(OCA2):c.511C>T (p.Leu171=) single nucleotide variant not provided [RCV003688058] Chr15:28027875 [GRCh38]
Chr15:28273021 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2244+15T>A single nucleotide variant not provided [RCV003687346] Chr15:27871139 [GRCh38]
Chr15:28116285 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2298G>A (p.Pro766=) single nucleotide variant not provided [RCV003545568] Chr15:27851422 [GRCh38]
Chr15:28096568 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.162G>C (p.Gly54=) single nucleotide variant not provided [RCV003687458] Chr15:28081713 [GRCh38]
Chr15:28326859 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1878C>T (p.Cys626=) single nucleotide variant not provided [RCV003715132] Chr15:27951857 [GRCh38]
Chr15:28197003 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1932T>C (p.Pro644=) single nucleotide variant not provided [RCV003544284] Chr15:27951803 [GRCh38]
Chr15:28196949 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.633G>C (p.Pro211=) single nucleotide variant not provided [RCV003660734] Chr15:28022514 [GRCh38]
Chr15:28267660 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.646+17C>G single nucleotide variant not provided [RCV003662255] Chr15:28022484 [GRCh38]
Chr15:28267630 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2451G>A (p.Met817Ile) single nucleotide variant not provided [RCV003662261] Chr15:27755454 [GRCh38]
Chr15:28000600 [GRCh37]
Chr15:15q12
uncertain significance
NM_000275.3(OCA2):c.2140-10C>G single nucleotide variant not provided [RCV003686476] Chr15:27871268 [GRCh38]
Chr15:28116414 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro) single nucleotide variant not provided [RCV003712719] Chr15:27983469 [GRCh38]
Chr15:28228615 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2442C>T (p.Phe814=) single nucleotide variant not provided [RCV003547409] Chr15:27755463 [GRCh38]
Chr15:28000609 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.354A>C (p.Pro118=) single nucleotide variant not provided [RCV003662282] Chr15:28028032 [GRCh38]
Chr15:28273178 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1854T>G (p.Ser618=) single nucleotide variant not provided [RCV003690481] Chr15:27951881 [GRCh38]
Chr15:28197027 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.327-4C>G single nucleotide variant not provided [RCV003689938] Chr15:28028063 [GRCh38]
Chr15:28273209 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1307del (p.Leu436fs) deletion not provided [RCV003686593] Chr15:27985121 [GRCh38]
Chr15:28230267 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1935dup (p.Ile646fs) duplication not provided [RCV003689469] Chr15:27951799..27951800 [GRCh38]
Chr15:28196945..28196946 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1636+8C>T single nucleotide variant not provided [RCV003824454] Chr15:27966682 [GRCh38]
Chr15:28211828 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.279C>T (p.Cys93=) single nucleotide variant not provided [RCV003716599] Chr15:28032112 [GRCh38]
Chr15:28277258 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.66G>A (p.Thr22=) single nucleotide variant not provided [RCV003878075] Chr15:28081809 [GRCh38]
Chr15:28326955 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2502G>A (p.Val834=) single nucleotide variant not provided [RCV003689492] Chr15:27755403 [GRCh38]
Chr15:28000549 [GRCh37]
Chr15:15q12
likely benign
NM_000275.3(OCA2):c.2043C>T (p.Thr681=) single nucleotide variant not provided [RCV003713030] Chr15:27926163 [GRCh38]
Chr15:28171309 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2338+10T>C single nucleotide variant not provided [RCV003716205] Chr15:27851372 [GRCh38]
Chr15:28096518 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.515+19C>G single nucleotide variant not provided [RCV003713569] Chr15:28027852 [GRCh38]
Chr15:28272998 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1659C>T (p.Val553=) single nucleotide variant not provided [RCV003714298] Chr15:27957713 [GRCh38]
Chr15:28202859 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.570T>C (p.Cys190=) single nucleotide variant not provided [RCV003572555] Chr15:28024848 [GRCh38]
Chr15:28269994 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1183-7C>G single nucleotide variant not provided [RCV003687694] Chr15:27986650 [GRCh38]
Chr15:28231796 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1773_1774insT (p.Thr592fs) insertion not provided [RCV003547302] Chr15:27957598..27957599 [GRCh38]
Chr15:28202744..28202745 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1773C>T (p.His591=) single nucleotide variant not provided [RCV003547316] Chr15:27957599 [GRCh38]
Chr15:28202745 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2292C>G (p.Pro764=) single nucleotide variant not provided [RCV003686922] Chr15:27851428 [GRCh38]
Chr15:28096574 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1117-9del deletion not provided [RCV003688067] Chr15:27989675 [GRCh38]
Chr15:28234821 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.633G>T (p.Pro211=) single nucleotide variant not provided [RCV003689669] Chr15:28022514 [GRCh38]
Chr15:28267660 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.228-18C>T single nucleotide variant not provided [RCV003572365] Chr15:28032181 [GRCh38]
Chr15:28277327 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.300G>C (p.Leu100Phe) single nucleotide variant not provided [RCV003574510] Chr15:28032091 [GRCh38]
Chr15:28277237 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_000275.3(OCA2):c.1038A>C (p.Ile346=) single nucleotide variant not provided [RCV003547809] Chr15:28014782 [GRCh38]
Chr15:28259928 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1131C>A (p.Thr377=) single nucleotide variant not provided [RCV003546443] Chr15:27989652 [GRCh38]
Chr15:28234798 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1044+20C>G single nucleotide variant not provided [RCV003689831] Chr15:28014756 [GRCh38]
Chr15:28259902 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.460G>T (p.Glu154Ter) single nucleotide variant not provided [RCV003547871] Chr15:28027926 [GRCh38]
Chr15:28273072 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1449C>A (p.Ala483=) single nucleotide variant not provided [RCV003687731] Chr15:27983399 [GRCh38]
Chr15:28228545 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.573+16G>T single nucleotide variant not provided [RCV003689259] Chr15:28024829 [GRCh38]
Chr15:28269975 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1182+9A>C single nucleotide variant not provided [RCV003690485] Chr15:27989592 [GRCh38]
Chr15:28234738 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1044+10A>T single nucleotide variant not provided [RCV003713888] Chr15:28014766 [GRCh38]
Chr15:28259912 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2244+16C>T single nucleotide variant not provided [RCV003689487] Chr15:27871138 [GRCh38]
Chr15:28116284 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.480C>T (p.Asp160=) single nucleotide variant not provided [RCV003545430] Chr15:28027906 [GRCh38]
Chr15:28273052 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.1533C>T (p.His511=) single nucleotide variant not provided [RCV003546983] Chr15:27966793 [GRCh38]
Chr15:28211939 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.934C>T (p.Gln312Ter) single nucleotide variant not provided [RCV003689528] Chr15:28014886 [GRCh38]
Chr15:28260032 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.2022A>G (p.Leu674=) single nucleotide variant not provided [RCV003876167] Chr15:27926184 [GRCh38]
Chr15:28171330 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.2432+15C>A single nucleotide variant not provided [RCV003686985] Chr15:27844944 [GRCh38]
Chr15:28090090 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.199del (p.Glu67fs) deletion not provided [RCV003574338] Chr15:28081676 [GRCh38]
Chr15:28326822 [GRCh37]
Chr15:15q13.1
pathogenic
NM_000275.3(OCA2):c.1044+13C>A single nucleotide variant not provided [RCV003689715] Chr15:28014763 [GRCh38]
Chr15:28259909 [GRCh37]
Chr15:15q13.1
likely benign
NM_000275.3(OCA2):c.646+12C>G single nucleotide variant not provided [RCV003716337] Chr15:28022489 [GRCh38]
Chr15:28267635 [GRCh37]
Chr15:15q13.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:694
Count of miRNA genes:465
Interacting mature miRNAs:501
Transcripts:ENST00000353809, ENST00000354638, ENST00000382996, ENST00000431101, ENST00000445578
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D15S156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371527,907,009 - 27,907,237UniSTSGRCh37
GRCh372135,515,658 - 135,515,853UniSTSGRCh37
Build 362135,232,128 - 135,232,323RGDNCBI36
Celera156,066,904 - 6,067,120UniSTS
Celera2129,228,531 - 129,228,726RGD
Cytogenetic Map15qUniSTS
HuRef156,033,686 - 6,033,902UniSTS
HuRef2127,507,289 - 127,507,484UniSTS
Marshfield Genetic Map1514.58RGD
Marshfield Genetic Map1514.58UniSTS
Genethon Genetic Map1514.4UniSTS
deCODE Assembly Map1515.05UniSTS
GeneMap99-GB4 RH Map1539.25UniSTS
Whitehead-RH Map1514.4UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map1515.1UniSTS
D15S144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371533,600,915 - 33,601,015UniSTSGRCh37
GRCh371533,600,914 - 33,601,075UniSTSGRCh37
Build 361531,388,206 - 31,388,367RGDNCBI36
Celera1510,402,479 - 10,402,580UniSTS
Celera1510,402,478 - 10,402,640RGD
HuRef1510,462,480 - 10,462,580UniSTS
HuRef1510,462,479 - 10,462,640UniSTS
Marshfield Genetic Map1525.3RGD
Genethon Genetic Map1525.3UniSTS
TNG Radiation Hybrid Map154773.0UniSTS
deCODE Assembly Map1528.29UniSTS
Stanford-G3 RH Map15435.0UniSTS
GeneMap99-GB4 RH Map1579.17UniSTS
Whitehead-RH Map1559.0UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map1560.5UniSTS
GeneMap99-G3 RH Map15435.0UniSTS
RH119044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,274,959 - 28,275,236UniSTSGRCh37
Build 361525,948,554 - 25,948,831RGDNCBI36
Celera156,434,740 - 6,435,017RGD
Cytogenetic Map15qUniSTS
HuRef156,401,478 - 6,401,755UniSTS
TNG Radiation Hybrid Map153100.0UniSTS
G63215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,214,602 - 28,214,875UniSTSGRCh37
Build 361525,888,197 - 25,888,470RGDNCBI36
Celera156,374,371 - 6,374,644RGD
Cytogenetic Map15qUniSTS
HuRef156,341,090 - 6,341,363UniSTS
TNG Radiation Hybrid Map153055.0UniSTS
GDB:593271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,344,292 - 28,344,463UniSTSGRCh37
Build 361526,017,887 - 26,018,058RGDNCBI36
Cytogenetic Map15qUniSTS
GDB:593274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,326,744 - 28,327,102UniSTSGRCh37
Build 361526,000,339 - 26,000,697RGDNCBI36
Celera156,486,586 - 6,486,944RGD
Cytogenetic Map15qUniSTS
HuRef156,453,709 - 6,454,067UniSTS
GDB:593280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,277,161 - 28,277,369UniSTSGRCh37
Build 361525,950,756 - 25,950,964RGDNCBI36
Celera156,436,942 - 6,437,150RGD
Cytogenetic Map15qUniSTS
HuRef156,403,680 - 6,403,888UniSTS
GDB:593284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,272,967 - 28,273,266UniSTSGRCh37
Build 361525,946,562 - 25,946,861RGDNCBI36
Celera156,432,748 - 6,433,047RGD
Cytogenetic Map15qUniSTS
HuRef156,399,486 - 6,399,785UniSTS
GDB:593290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,267,597 - 28,267,779UniSTSGRCh37
Build 361525,941,192 - 25,941,374RGDNCBI36
Celera156,427,378 - 6,427,560RGD
Cytogenetic Map15qUniSTS
HuRef156,394,116 - 6,394,298UniSTS
GDB:593293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,263,492 - 28,263,755UniSTSGRCh37
Build 361525,937,087 - 25,937,350RGDNCBI36
Celera156,423,274 - 6,423,537RGD
Cytogenetic Map15qUniSTS
HuRef156,390,012 - 6,390,275UniSTS
GDB:593377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,261,181 - 28,261,393UniSTSGRCh37
Build 361525,934,776 - 25,934,988RGDNCBI36
Celera156,420,963 - 6,421,175RGD
Cytogenetic Map15qUniSTS
HuRef156,387,727 - 6,387,939UniSTS
GDB:593381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,259,863 - 28,260,135UniSTSGRCh37
Build 361525,933,458 - 25,933,730RGDNCBI36
Celera156,419,645 - 6,419,917RGD
Cytogenetic Map15qUniSTS
HuRef156,386,409 - 6,386,681UniSTS
GDB:593391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,235,661 - 28,235,855UniSTSGRCh37
Build 361525,909,256 - 25,909,450RGDNCBI36
Celera156,395,417 - 6,395,611RGD
Cytogenetic Map15qUniSTS
HuRef156,362,178 - 6,362,372UniSTS
GDB:593466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,231,593 - 28,231,848UniSTSGRCh37
Build 361525,905,188 - 25,905,443RGDNCBI36
Celera156,391,348 - 6,391,603RGD
Cytogenetic Map15qUniSTS
HuRef156,358,108 - 6,358,363UniSTS
GDB:593504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,228,441 - 28,228,679UniSTSGRCh37
Build 361525,902,036 - 25,902,274RGDNCBI36
Celera156,388,196 - 6,388,434RGD
Cytogenetic Map15qUniSTS
HuRef156,354,956 - 6,355,194UniSTS
GDB:593534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,211,737 - 28,212,029UniSTSGRCh37
Build 361525,885,332 - 25,885,624RGDNCBI36
Celera156,371,506 - 6,371,798RGD
Cytogenetic Map15qUniSTS
HuRef156,338,225 - 6,338,517UniSTS
GDB:593558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,200,255 - 28,200,473UniSTSGRCh37
Build 361525,873,850 - 25,874,068RGDNCBI36
Celera156,360,031 - 6,360,249RGD
Cytogenetic Map15qUniSTS
HuRef156,326,750 - 6,326,968UniSTS
GDB:593798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,196,880 - 28,197,114UniSTSGRCh37
Build 361525,870,475 - 25,870,709RGDNCBI36
Celera156,356,655 - 6,356,889RGD
Cytogenetic Map15qUniSTS
HuRef156,323,383 - 6,323,617UniSTS
GDB:593820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,195,574 - 28,195,770UniSTSGRCh37
Build 361525,869,169 - 25,869,365RGDNCBI36
Celera156,355,349 - 6,355,545RGD
Cytogenetic Map15qUniSTS
HuRef156,322,077 - 6,322,273UniSTS
GDB:593842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,171,190 - 28,171,455UniSTSGRCh37
Build 361525,844,785 - 25,845,050RGDNCBI36
Celera156,330,964 - 6,331,229RGD
Cytogenetic Map15qUniSTS
HuRef156,297,807 - 6,298,072UniSTS
GDB:593865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,116,960 - 28,117,171UniSTSGRCh37
Build 361525,790,555 - 25,790,766RGDNCBI36
Celera156,276,797 - 6,277,008RGD
Cytogenetic Map15qUniSTS
HuRef156,243,597 - 6,243,808UniSTS
GDB:593922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,096,455 - 28,096,683UniSTSGRCh37
Build 361525,770,050 - 25,770,278RGDNCBI36
Celera156,256,293 - 6,256,521RGD
Cytogenetic Map15qUniSTS
HuRef156,223,116 - 6,223,344UniSTS
GDB:593931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,090,054 - 28,090,257UniSTSGRCh37
Build 361525,763,649 - 25,763,852RGDNCBI36
Celera156,249,892 - 6,250,095RGD
Cytogenetic Map15qUniSTS
HuRef156,216,712 - 6,216,915UniSTS
SHGC-147969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,139,354 - 28,139,662UniSTSGRCh37
Build 361525,812,949 - 25,813,257RGDNCBI36
Celera156,299,191 - 6,299,499RGD
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15qUniSTS
HuRef156,265,992 - 6,266,300UniSTS
TNG Radiation Hybrid Map153000.0UniSTS
SHGC-149153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,238,804 - 28,239,153UniSTSGRCh37
Build 361525,912,399 - 25,912,748RGDNCBI36
Celera156,398,561 - 6,398,910RGD
Cytogenetic Map15qUniSTS
HuRef156,365,321 - 6,365,670UniSTS
TNG Radiation Hybrid Map153039.0UniSTS
RH69210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,000,384 - 28,000,532UniSTSGRCh37
Build 361525,673,979 - 25,674,127RGDNCBI36
Celera156,160,227 - 6,160,375RGD
Cytogenetic Map15qUniSTS
HuRef156,126,980 - 6,127,128UniSTS
GeneMap99-GB4 RH Map1537.1UniSTS
L29654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,205,697 - 28,205,814UniSTSGRCh37
GRCh371218,723,395 - 18,723,616UniSTSGRCh37
Build 361218,614,662 - 18,614,883RGDNCBI36
Celera1223,868,909 - 23,869,130RGD
Celera156,365,474 - 6,365,591UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map12p12UniSTS
HuRef1218,491,346 - 18,491,567UniSTS
HuRef156,332,193 - 6,332,310UniSTS
SHGC-156027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,234,420 - 28,234,749UniSTSGRCh37
Build 361525,908,015 - 25,908,344RGDNCBI36
Celera156,394,176 - 6,394,505RGD
Cytogenetic Map15qUniSTS
HuRef156,360,936 - 6,361,266UniSTS
TNG Radiation Hybrid Map153047.0UniSTS
WI-15852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,000,055 - 28,000,180UniSTSGRCh37
Build 361525,673,650 - 25,673,775RGDNCBI36
Celera156,159,898 - 6,160,023RGD
Cytogenetic Map15qUniSTS
HuRef156,126,651 - 6,126,776UniSTS
GeneMap99-GB4 RH Map1537.1UniSTS
Whitehead-RH Map1513.0UniSTS
D15S1250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,000,055 - 28,000,194UniSTSGRCh37
Build 361525,673,650 - 25,673,789RGDNCBI36
Celera156,159,898 - 6,160,037RGD
Cytogenetic Map15qUniSTS
HuRef156,126,651 - 6,126,790UniSTS
TNG Radiation Hybrid Map152951.0UniSTS
Stanford-G3 RH Map15241.0UniSTS
NCBI RH Map1546.8UniSTS
SGC32570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,227,265 - 28,227,414UniSTSGRCh37
Build 361525,900,860 - 25,901,009RGDNCBI36
Celera156,387,020 - 6,387,169RGD
Cytogenetic Map15qUniSTS
HuRef156,353,780 - 6,353,929UniSTS
GeneMap99-GB4 RH Map1556.34UniSTS
Whitehead-RH Map1526.0UniSTS
D15S931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,277,010 - 28,277,216UniSTSGRCh37
Build 361525,950,605 - 25,950,811RGDNCBI36
Celera156,436,791 - 6,436,997RGD
Cytogenetic Map15qUniSTS
HuRef156,403,529 - 6,403,735UniSTS
Whitehead-YAC Contig Map15 UniSTS
D15S661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,074,323 - 28,074,486UniSTSGRCh37
Build 361525,747,918 - 25,748,081RGDNCBI36
Celera156,234,162 - 6,234,325RGD
Cytogenetic Map15qUniSTS
HuRef156,200,965 - 6,201,144UniSTS
D15S217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,074,323 - 28,074,494UniSTSGRCh37
Build 361525,747,918 - 25,748,089RGDNCBI36
Celera156,234,162 - 6,234,333RGD
Cytogenetic Map15qUniSTS
HuRef156,200,965 - 6,201,152UniSTS
Whitehead-YAC Contig Map15 UniSTS
SHGC-12468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,000,055 - 28,000,391UniSTSGRCh37
Build 361525,673,650 - 25,673,986RGDNCBI36
Celera156,159,898 - 6,160,234RGD
Cytogenetic Map15qUniSTS
HuRef156,126,651 - 6,126,987UniSTS
Stanford-G3 RH Map15238.0UniSTS
GeneMap99-GB4 RH Map1537.1UniSTS
Whitehead-RH Map1511.1UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map1546.8UniSTS
GeneMap99-G3 RH Map15238.0UniSTS
GDB:593548  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15qUniSTS
HuRef156,329,179 - 6,329,437UniSTS
OCA2_Exon_15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,211,728 - 28,212,007UniSTSGRCh37
Celera156,371,497 - 6,371,776UniSTS
HuRef156,338,216 - 6,338,495UniSTS
OCA2_Exon_11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,234,636 - 28,234,889UniSTSGRCh37
Celera156,394,392 - 6,394,645UniSTS
HuRef156,361,153 - 6,361,406UniSTS
OCA2_Exon_14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,228,380 - 28,228,718UniSTSGRCh37
Celera156,388,135 - 6,388,473UniSTS
HuRef156,354,895 - 6,355,233UniSTS
OCA2_Exon_18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,196,838 - 28,197,119UniSTSGRCh37
Celera156,356,613 - 6,356,894UniSTS
HuRef156,323,341 - 6,323,622UniSTS
OCA2_Exon_21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,116,196 - 28,116,469UniSTSGRCh37
Celera156,276,033 - 6,276,306UniSTS
HuRef156,242,833 - 6,243,106UniSTS
OCA2_Exon_6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,267,553 - 28,267,818UniSTSGRCh37
Celera156,427,334 - 6,427,599UniSTS
HuRef156,394,072 - 6,394,337UniSTS
GDB:593876  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15qUniSTS
HuRef156,242,884 - 6,243,103UniSTS
GDB:593955  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15qUniSTS
HuRef156,126,702 - 6,127,274UniSTS
D15S144  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q14UniSTS
Cytogenetic Map15qUniSTS
Marshfield Genetic Map1525.3UniSTS
Genethon Genetic Map1525.3UniSTS
TNG Radiation Hybrid Map154769.0UniSTS
deCODE Assembly Map1528.29UniSTS
GeneMap99-GB4 RH Map1579.17UniSTS
Whitehead-RH Map1559.0UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map1560.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 4 440 262 9 5 9 528 3 9 16 63 262 1 451
Low 476 962 774 220 325 67 2531 340 2334 128 1009 1026 153 1 439 1484 3 1
Below cutoff 1828 1120 549 316 814 308 1237 1727 1189 202 335 234 14 738 822 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY392133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY392134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY392135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX398277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M99564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000353809   ⟹   ENSP00000261276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1527,754,875 - 28,099,312 (-)Ensembl
RefSeq Acc Id: ENST00000354638   ⟹   ENSP00000346659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1527,754,875 - 28,099,315 (-)Ensembl
RefSeq Acc Id: ENST00000431101   ⟹   ENSP00000415431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,018,412 - 28,099,293 (-)Ensembl
RefSeq Acc Id: ENST00000445578   ⟹   ENSP00000414425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,016,104 - 28,099,296 (-)Ensembl
RefSeq Acc Id: NM_000275   ⟹   NP_000266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
GRCh371528,000,021 - 28,344,483 (-)NCBI
Build 361525,673,616 - 26,018,053 (-)NCBI Archive
HuRef156,126,617 - 6,454,008 (-)ENTREZGENE
CHM1_11527,949,611 - 28,294,279 (-)NCBI
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001300984   ⟹   NP_001287913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
CHM1_11527,949,611 - 28,294,279 (-)NCBI
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521640   ⟹   XP_011519942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022255   ⟹   XP_016877744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,225 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022256   ⟹   XP_016877745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022257   ⟹   XP_016877746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,224 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022258   ⟹   XP_016877747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,085,226 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022259   ⟹   XP_016877748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,222 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022260   ⟹   XP_016877749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,225 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022261   ⟹   XP_016877750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,080,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022262   ⟹   XP_016877751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,227 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022263   ⟹   XP_016877752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,224 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022264   ⟹   XP_016877753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,085,228 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022265   ⟹   XP_016877754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,949,736 - 28,085,229 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432605   ⟹   XP_047288561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432606   ⟹   XP_047288562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432607   ⟹   XP_047288563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,085,225 (-)NCBI
RefSeq Acc Id: XM_047432608   ⟹   XP_047288564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432609   ⟹   XP_047288565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432610   ⟹   XP_047288566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,222 (-)NCBI
RefSeq Acc Id: XM_047432611   ⟹   XP_047288567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432612   ⟹   XP_047288568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432613   ⟹   XP_047288569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432614   ⟹   XP_047288570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432615   ⟹   XP_047288571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,225 (-)NCBI
RefSeq Acc Id: XM_047432616   ⟹   XP_047288572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,085,223 (-)NCBI
RefSeq Acc Id: XM_047432617   ⟹   XP_047288573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,754,875 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432618   ⟹   XP_047288574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_047432619   ⟹   XP_047288575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,719,008 - 28,099,315 (-)NCBI
RefSeq Acc Id: XM_054378074   ⟹   XP_054234049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378075   ⟹   XP_054234050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,827,750 (-)NCBI
RefSeq Acc Id: XM_054378076   ⟹   XP_054234051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378077   ⟹   XP_054234052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,835,727 (-)NCBI
RefSeq Acc Id: XM_054378078   ⟹   XP_054234053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,725 (-)NCBI
RefSeq Acc Id: XM_054378079   ⟹   XP_054234054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378080   ⟹   XP_054234055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378081   ⟹   XP_054234056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378082   ⟹   XP_054234057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378083   ⟹   XP_054234058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,725 (-)NCBI
RefSeq Acc Id: XM_054378084   ⟹   XP_054234059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378085   ⟹   XP_054234060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378086   ⟹   XP_054234061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378087   ⟹   XP_054234062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378088   ⟹   XP_054234063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,725 (-)NCBI
RefSeq Acc Id: XM_054378089   ⟹   XP_054234064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,823,428 (-)NCBI
RefSeq Acc Id: XM_054378090   ⟹   XP_054234065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378091   ⟹   XP_054234066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378092   ⟹   XP_054234067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378093   ⟹   XP_054234068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378094   ⟹   XP_054234069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378095   ⟹   XP_054234070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,835,727 (-)NCBI
RefSeq Acc Id: XM_054378096   ⟹   XP_054234071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378097   ⟹   XP_054234072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378098   ⟹   XP_054234073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,835,726 (-)NCBI
RefSeq Acc Id: XM_054378099   ⟹   XP_054234074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378100   ⟹   XP_054234075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378101   ⟹   XP_054234076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,461,432 - 25,841,842 (-)NCBI
RefSeq Acc Id: XM_054378102   ⟹   XP_054234077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,692,259 - 25,835,727 (-)NCBI
RefSeq Acc Id: XM_054378103   ⟹   XP_054234078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,497,259 - 25,762,576 (-)NCBI
RefSeq Acc Id: XR_001751294
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381527,957,649 - 28,085,230 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008488954
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,700,160 - 25,835,727 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001287913 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519942 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877744 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877745 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877746 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877747 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877748 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877749 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877750 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877751 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877752 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877753 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877754 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288561 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288562 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288563 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288564 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288565 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288566 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288567 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288568 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288569 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288570 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288571 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288572 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288573 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288574 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288575 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234078 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36430 (Get FASTA)   NCBI Sequence Viewer  
  AAA36477 (Get FASTA)   NCBI Sequence Viewer  
  AAH12097 (Get FASTA)   NCBI Sequence Viewer  
  EAW57661 (Get FASTA)   NCBI Sequence Viewer  
  EAW57662 (Get FASTA)   NCBI Sequence Viewer  
  EAW57663 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261276
  ENSP00000261276.8
  ENSP00000346659
  ENSP00000346659.3
  ENSP00000414425.1
  ENSP00000415431.1
  ENSP00000484219.1
  ENSP00000488119.1
  ENSP00000488215.1
  ENSP00000488458.1
  ENSP00000488768.1
GenBank Protein Q04671 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000266   ⟸   NM_000275
- Peptide Label: isoform 1
- UniProtKB: Q96EN1 (UniProtKB/Swiss-Prot),   Q15212 (UniProtKB/Swiss-Prot),   Q15211 (UniProtKB/Swiss-Prot),   Q9UMI5 (UniProtKB/Swiss-Prot),   Q04671 (UniProtKB/Swiss-Prot),   A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287913   ⟸   NM_001300984
- Peptide Label: isoform 2
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519942   ⟸   XM_011521640
- Peptide Label: isoform X2
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877753   ⟸   XM_017022264
- Peptide Label: isoform X20
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877747   ⟸   XM_017022258
- Peptide Label: isoform X5
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877745   ⟸   XM_017022256
- Peptide Label: isoform X3
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877749   ⟸   XM_017022260
- Peptide Label: isoform X9
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877748   ⟸   XM_017022259
- Peptide Label: isoform X8
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877746   ⟸   XM_017022257
- Peptide Label: isoform X4
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877752   ⟸   XM_017022263
- Peptide Label: isoform X17
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877751   ⟸   XM_017022262
- Peptide Label: isoform X15
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877744   ⟸   XM_017022255
- Peptide Label: isoform X1
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877750   ⟸   XM_017022261
- Peptide Label: isoform X14
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877754   ⟸   XM_017022265
- Peptide Label: isoform X27
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000414425   ⟸   ENST00000445578
RefSeq Acc Id: ENSP00000415431   ⟸   ENST00000431101
RefSeq Acc Id: ENSP00000261276   ⟸   ENST00000353809
RefSeq Acc Id: ENSP00000346659   ⟸   ENST00000354638
RefSeq Acc Id: XP_047288575   ⟸   XM_047432619
- Peptide Label: isoform X26
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288574   ⟸   XM_047432618
- Peptide Label: isoform X25
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288565   ⟸   XM_047432609
- Peptide Label: isoform X12
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288570   ⟸   XM_047432614
- Peptide Label: isoform X21
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288562   ⟸   XM_047432606
- Peptide Label: isoform X7
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288563   ⟸   XM_047432607
- Peptide Label: isoform X10
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288567   ⟸   XM_047432611
- Peptide Label: isoform X16
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288564   ⟸   XM_047432608
- Peptide Label: isoform X11
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288573   ⟸   XM_047432617
- Peptide Label: isoform X24
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288561   ⟸   XM_047432605
- Peptide Label: isoform X6
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288569   ⟸   XM_047432613
- Peptide Label: isoform X19
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288568   ⟸   XM_047432612
- Peptide Label: isoform X18
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288571   ⟸   XM_047432615
- Peptide Label: isoform X22
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288572   ⟸   XM_047432616
- Peptide Label: isoform X23
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288566   ⟸   XM_047432610
- Peptide Label: isoform X13
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234076   ⟸   XM_054378101
- Peptide Label: isoform X26
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234075   ⟸   XM_054378100
- Peptide Label: isoform X25
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234062   ⟸   XM_054378087
- Peptide Label: isoform X12
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234071   ⟸   XM_054378096
- Peptide Label: isoform X21
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234057   ⟸   XM_054378082
- Peptide Label: isoform X7
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234070   ⟸   XM_054378095
- Peptide Label: isoform X20
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234052   ⟸   XM_054378077
- Peptide Label: isoform X28
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234060   ⟸   XM_054378085
- Peptide Label: isoform X10
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234055   ⟸   XM_054378080
- Peptide Label: isoform X5
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234066   ⟸   XM_054378091
- Peptide Label: isoform X16
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234061   ⟸   XM_054378086
- Peptide Label: isoform X11
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234074   ⟸   XM_054378099
- Peptide Label: isoform X24
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234056   ⟸   XM_054378081
- Peptide Label: isoform X6
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234069   ⟸   XM_054378094
- Peptide Label: isoform X19
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234068   ⟸   XM_054378093
- Peptide Label: isoform X18
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234051   ⟸   XM_054378076
- Peptide Label: isoform X2
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234059   ⟸   XM_054378084
- Peptide Label: isoform X9
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234073   ⟸   XM_054378098
- Peptide Label: isoform X23
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234072   ⟸   XM_054378097
- Peptide Label: isoform X22
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234054   ⟸   XM_054378079
- Peptide Label: isoform X4
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234067   ⟸   XM_054378092
- Peptide Label: isoform X17
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234065   ⟸   XM_054378090
- Peptide Label: isoform X15
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234049   ⟸   XM_054378074
- Peptide Label: isoform X1
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234063   ⟸   XM_054378088
- Peptide Label: isoform X13
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234058   ⟸   XM_054378083
- Peptide Label: isoform X8
- UniProtKB: A0A0J9YXL8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234053   ⟸   XM_054378078
- Peptide Label: isoform X3
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234050   ⟸   XM_054378075
- Peptide Label: isoform X1
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234064   ⟸   XM_054378089
- Peptide Label: isoform X14
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234078   ⟸   XM_054378103
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054234077   ⟸   XM_054378102
- Peptide Label: isoform X27
- UniProtKB: A0A0J9YWU3 (UniProtKB/TrEMBL)
Protein Domains
Citrate transporter-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04671-F1-model_v2 AlphaFold Q04671 1-838 view protein structure

Promoters
RGD ID:6792493
Promoter ID:HG_KWN:20747
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:ENST00000382996,   OTTHUMT00000250823,   OTTHUMT00000250824,   OTTHUMT00000250825,   OTTHUMT00000250826
Position:
Human AssemblyChrPosition (strand)Source
Build 361526,017,689 - 26,018,189 (-)MPROMDB
RGD ID:7228877
Promoter ID:EPDNEW_H20184
Type:initiation region
Name:OCA2_1
Description:OCA2 melanosomal transmembrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,099,309 - 28,099,369EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8101 AgrOrtholog
COSMIC OCA2 COSMIC
Ensembl Genes ENSG00000104044 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277361 UniProtKB/TrEMBL
Ensembl Transcript ENST00000353809 ENTREZGENE
  ENST00000353809.9 UniProtKB/Swiss-Prot
  ENST00000354638 ENTREZGENE
  ENST00000354638.8 UniProtKB/Swiss-Prot
  ENST00000431101.1 UniProtKB/TrEMBL
  ENST00000445578.5 UniProtKB/TrEMBL
  ENST00000619392.1 UniProtKB/TrEMBL
  ENST00000631387.1 UniProtKB/TrEMBL
  ENST00000632166.1 UniProtKB/TrEMBL
  ENST00000632880.1 UniProtKB/TrEMBL
  ENST00000633787.1 UniProtKB/TrEMBL
GTEx ENSG00000104044 GTEx
  ENSG00000277361 GTEx
HGNC ID HGNC:8101 ENTREZGENE
Human Proteome Map OCA2 Human Proteome Map
InterPro Cit_transptr-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/TrEMBL
KEGG Report hsa:4948 UniProtKB/Swiss-Prot
NCBI Gene 4948 ENTREZGENE
OMIM 611409 OMIM
PANTHER P PROTEIN UniProtKB/Swiss-Prot
  P PROTEIN UniProtKB/Swiss-Prot
  P PROTEIN UniProtKB/TrEMBL
  P PROTEIN UniProtKB/TrEMBL
Pfam CitMHS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31890 PharmGKB
Superfamily-SCOP SSF103473 UniProtKB/TrEMBL
UniProt A0A0G2JPT4_HUMAN UniProtKB/TrEMBL
  A0A0J9YWU3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YXL8 ENTREZGENE, UniProtKB/TrEMBL
  C9JDV3_HUMAN UniProtKB/TrEMBL
  C9JLG9_HUMAN UniProtKB/TrEMBL
  P_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15211 ENTREZGENE
  Q15212 ENTREZGENE
  Q96EN1 ENTREZGENE
  Q9UMI5 ENTREZGENE
UniProt Secondary Q15211 UniProtKB/Swiss-Prot
  Q15212 UniProtKB/Swiss-Prot
  Q96EN1 UniProtKB/Swiss-Prot
  Q9UMI5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 OCA2  OCA2 melanosomal transmembrane protein  HCL3  hair color 3 (brown)  Data merged from RGD:1350821 737654 PROVISIONAL
2016-04-05 OCA2  OCA2 melanosomal transmembrane protein  EYCL3  eye color 3 (brown)  Data merged from RGD:1350666 737654 PROVISIONAL
2016-01-19 OCA2  OCA2 melanosomal transmembrane protein  OCA2  oculocutaneous albinism II  Symbol and/or name change 5135510 APPROVED