Full data view for gene OCA2

Information The variants shown are described using the NM_000275.2 transcript reference sequence.

540 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 23i_24_ c.(2432+1_2433-1)_*513{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_28000021)_(28000619_28090104)del g.(?_27754875)_(27755473_27844958)del del ex24 - OCA2_000098 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P83 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 23i_24_ c.(2432+1_2433-1)_*513{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_28000021)_(28000619_28090104)del g.(?_27754875)_(27755473_27844958)del del ex24 - OCA2_000098 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P171 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 23i_24_ c.(2432+1_2433-1)_*513{0} r.? p.? Parent #2 - pathogenic (recessive) g.(?_28000021)_(28000619_28090104)del g.(?_27754875)_(27755473_27844958)del del ex24 - OCA2_000098 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P163 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_19i c.-110_(2079+1_2080-1){0} r.0? p.0? Paternal (confirmed) ACMG pathogenic (recessive) g.(28117069_28171272)_(28344458_?)del g.(27871923_27926126)_(28099312_?)del del ex1-19 - OCA2_000129 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_24_ c.-110_*513{0} r.0? p.0? Paternal (inferred) - pathogenic (recessive) g.(?_28000021)_(28344458_?)del g.(?_27754875)_(28099312_?)del del15q11 - OCA2_000099 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P55 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_24_ c.-110_*513{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_28000021)_(28344458_?)del g.(?_27754875)_(28099312_?)del del HERC2-OCA2 - OCA2_000099 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P58 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_24_ c.-110_*513{0} r.0? p.0? Paternal (inferred) - pathogenic (recessive) g.(?_28000021)_(28344458_?)del g.(?_27754875)_(28099312_?)del del15q11q12 - OCA2_000099 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_24_ c.-110_*513{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.(?_28000021)_(28344458_?)del g.(?_27754875)_(28099312_?)del del15q11q12 - OCA2_000099 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_24_ c.-110_*513{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.(?_28000021)_(28344458_?)del g.(?_27754875)_(28099312_?)del del ex1-24 - OCA2_000099 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P72 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. _1 c.-21270T>C r.(=) p.(=) Both (homozygous) - association g.28365618A>G g.28120472A>G - - HERC2_000042 effects regulation OCA2 gene PubMed: Eiberg 2008, Journal: Eiberg 2008 - rs12913832 Germline - - - - - DNA SEQ - - ? 18172690 blue eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - 150 Pieter Klap
+?/. _1 c.-21270T>C r.(=) p.(=) Parent #1 - association g.28365618A>G g.28120472A>G - - HERC2_000042 affects regulation OCA2 gene PubMed: Eiberg 2008, Journal: Eiberg 2008 - rs12913832 Germline - MAF/MinorAlleleCount: G=0.1773/888 (1000 Genomes) - - - DNA SEQ - - Healthy/Control 18172690 brown eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - 46 Pieter Klap
+/. 13i_14i c.-110_(1503+1_1504-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(28211969_28228490)_(28344458_?)del g.(27871923_27926126)_(28099312_?)del del ex14 - OCA2_000151 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P45 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.-21-5C>T r.spl? p.? Unknown - likely benign g.28327046G>A - OCA2(NM_000275.2):c.-21-5C>T - OCA2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.(?_-21-1)_(2079+1_2080-1)dup r.spl p.(?) Unknown ACMG VUS g.? g.? OCA2 c.1327G>A p.(Val443Ile) het OCA2 exons 19 to 21 duplication het - IGF1R_000000 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 26 genes panel tested retinal disease 18012132 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_24_ c.-110_*513{0} r.0? p.0? Parent #1 - likely pathogenic g.(?_28000021)_(28344458_?)del g.(?_27754875)_(28099312_?)del del OCA2 gene - OCA2_000099 - - - - Germline - - - - - DNA MLPA BLOOD - OCA alb0066 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. _1_19i c.-110_2080-26697{0} r.0 p.0 Unknown - pathogenic g.28143765_28429460del g.27898619_28184314del - - HERC2_000000 - PubMed: Morice-Picard 2016 - - Germline yes - - - - DNA arrayCGH - - ? patient PubMed: Morice-Picard 2016 - M yes France Africa 02y - - - 1 Morice-Picard
?/. - c.29G>A r.(?) p.(Arg10Gln) Unknown - VUS g.28326992C>T g.28081846C>T OCA2(NM_000275.3):c.29G>A (p.R10Q) - OCA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36C>T r.(?) p.(Pro12=) Unknown - benign g.28326985G>A g.28081839G>A OCA2(NM_000275.3):c.36C>T (p.P12=) - OCA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>A r.(?) p.(Pro15=) Unknown - likely benign g.28326976C>T g.28081830C>T OCA2(NM_000275.2):c.45G>A (p.P15=) - OCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58C>T r.(?) p.(Leu20=) Unknown - likely benign g.28326963G>A g.28081817G>A OCA2(NM_000275.2):c.58C>T (p.L20=) - OCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.79G>A r.(?) p.(Gly27Arg) Unknown - benign g.28326942C>T g.28081796C>T OCA2(NM_000275.3):c.79G>A (p.G27R) - OCA2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91C>T r.(?) p.(Leu31Phe) Unknown - likely benign g.28326930G>A - OCA2(NM_000275.2):c.91C>T (p.L31F) - OCA2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.157del r.(?) p.(Arg53Glyfs*49) Unknown - likely pathogenic g.28326864del g.28081718del - - OCA2_000003 - PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - - Unknown - - - - - DNA SEQ - - OCA2 25455140 OCA_04 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >21y - - - 1 Pieter Klap
+/. - c.157del r.(?) p.(Arg53GlyfsTer49) Unknown - pathogenic g.28326864del g.28081718del OCA2(NM_000275.3):c.157delA (p.R53Gfs*49) - OCA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.157del r.(?) p.(Arg53GlyfsTer49) Parent #1 - pathogenic (recessive) g.28326864del g.28081718del - - OCA2_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P89 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.157del r.(?) p.(Arg53GlyfsTer49) Parent #1 - pathogenic (recessive) g.28326864del g.28081718del - - OCA2_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P103 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.157del r.(?) p.(Arg53GlyfsTer49) Paternal (confirmed) - pathogenic (recessive) g.28326864del g.28081718del - - OCA2_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P139 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.157del r.(?) p.(Arg53GlyfsTer49) Parent #1 - pathogenic (recessive) g.28326864del g.28081718del - - OCA2_000003 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P152 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.157del r.(?) p.(Arg53GlyfsTer49) Unknown - pathogenic g.28326864del - OCA2(NM_000275.3):c.157delA (p.R53Gfs*49) - OCA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del g.28081717del OCA2(NM_000275.2):c.163delG (p.(Ala55Leufs*47)), OCA2(NM_000275.2):c.163delG (p.A55Lfs*47), OCA2(NM_000275.3):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del g.28081717del OCA2(NM_000275.2):c.163delG (p.(Ala55Leufs*47)), OCA2(NM_000275.2):c.163delG (p.A55Lfs*47), OCA2(NM_000275.3):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del g.28081717del OCA2(NM_000275.2):c.163delG (p.(Ala55Leufs*47)), OCA2(NM_000275.2):c.163delG (p.A55Lfs*47), OCA2(NM_000275.3):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.163del r.(?) p.(Ala55LeufsTer47) Both (homozygous) ACMG pathogenic (recessive) g.28326863del g.28081717del - - OCA2_000026 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.163del r.(?) p.(Ala55LeufsTer47) Unknown - pathogenic g.28326863del - OCA2(NM_000275.2):c.163delG (p.(Ala55Leufs*47)), OCA2(NM_000275.2):c.163delG (p.A55Lfs*47), OCA2(NM_000275.3):c.163delG (p.A55Lfs*47) - OCA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>A r.(?) p.(Trp61*) Unknown - pathogenic g.28326839C>T - OCA2(NM_000275.3):c.182G>A (p.W61*) - OCA2_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>A r.(?) p.(Trp61*) Unknown - pathogenic g.28326839C>T - OCA2(NM_000275.3):c.182G>A (p.W61*) - OCA2_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216C>G r.(?) p.(Leu72=) Unknown - benign g.28326805G>C g.28081659G>C OCA2(NM_000275.3):c.216C>G (p.L72=) - OCA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_19i c.(227+1_228-1)_(2079+1_2080-1)del r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.(28117069_28171272)_(28277310_28326793)del g.(27871923_27926126)_(28032164_28081647)del del ex3-19 - OCA2_000127 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(227+1_228-1)_(2079+1_2080-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(28117069_28171272)_(28277310_28326793)del g.(27871923_27926126)_(28032164_28081647)del del ex3-19 - OCA2_000127 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P29 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(227+1_228-1)_(2079+1_2080-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(28117069_28171272)_(28277310_28326793)del g.(27871923_27926126)_(28032164_28081647)del del ex3-19 - OCA2_000127 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P138 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(227+1_228-1)_(2079+1_2080-1)dup r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.(28117069_28171272)_(28277310_28326793)dup g.(27871923_27926126)_(28032164_28081647)dup dup ex3-19 - OCA2_000128 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P27 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(227+1_228-1)_(2079+1_2080-1)dup r.? p.? Parent #2 - pathogenic (recessive) g.(28117069_28171272)_(28277310_28326793)dup g.(27871923_27926126)_(28032164_28081647)dup dup ex3-19 - OCA2_000128 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P86 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i_20i c.(227+1_228-1)_(2139+1_2140-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(28273206_28277210)_(28277310_28326793)del g.(27871259_27871862)_(28032164_28081647)del del Int2_20 - OCA2_000193 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P59 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i_20i c.(227+1_228-1)_(2139+1_2140-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(28273206_28277210)_(28277310_28326793)del g.(27871259_27871862)_(28032164_28081647)del del Int2_20 - OCA2_000193 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P104 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.287A>C r.(?) p.(Glu96Ala) Parent #1 - pathogenic (recessive) g.28277250T>G g.28032104T>G - - OCA2_000195 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P200 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.308del r.(?) p.(Asn103IlefsTer38) Both (homozygous) - pathogenic (recessive) g.28277230del g.28032084del - - OCA2_000194 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P165 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.316del r.(?) p.(Gln106ArgfsTer35) Unknown - pathogenic g.28277221del - OCA2(NM_000275.3):c.316delC (p.Q106Rfs*35) - OCA2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_19i c.(326+1_327-1)_(2079+1_2080-1)dup r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(28117069_28171272)_(28273206_28277210)dup g.(27871923_27926126)_(28028060_28032064)dup dup ex4-19 - OCA2_000126 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P154 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.335G>T r.(?) p.(Cys112Phe) Unknown - likely benign g.28273197C>A - OCA2(NM_000275.2):c.335G>T (p.C112F) - OCA2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.365C>T r.(?) p.(Thr122Ile) Unknown - likely benign g.28273167G>A - OCA2(NM_000275.2):c.365C>T (p.T122I) - OCA2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.403G>T r.(?) p.(Glu135*) Unknown - pathogenic g.28273129C>A g.28027983C>A - - OCA2_000005 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - OCA2 - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.406C>T r.(?) p.(Arg136*) Unknown - pathogenic g.28273126G>A - - - OCA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.415_416insCT r.(?) p.(Leu139ProfsTer3) Parent #1 - pathogenic (recessive) g.28273116_28273117insAG g.28027970_28027971insAG - - OCA2_000192 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P69 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.492C>T r.(?) p.(Ile164=) Unknown - likely benign g.28273040G>A g.28027894G>A OCA2(NM_000275.2):c.492C>T (p.I164=) - OCA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.493C>T r.(?) p.(Arg165Ter) Paternal (confirmed) - pathogenic (recessive) g.28273039G>A g.28027893G>A - - OCA2_000191 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P39 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.493C>T r.(?) p.(Arg165Ter) Maternal (inferred) - pathogenic (recessive) g.28273039G>A g.28027893G>A - - OCA2_000191 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P66 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.493C>T r.(?) p.(Arg165Ter) Parent #1 - pathogenic (recessive) g.28273039G>A g.28027893G>A - - OCA2_000191 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P169 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.493C>T r.(?) p.(Arg165Ter) Maternal (confirmed) - pathogenic (recessive) g.28273039G>A g.28027893G>A - - OCA2_000191 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P177 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.493C>T r.(?) p.(Arg165Ter) Parent #1 - pathogenic (recessive) g.28273039G>A g.28027893G>A - - OCA2_000191 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P186 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.493C>T r.(?) p.(Arg165Ter) Maternal (inferred) - pathogenic (recessive) g.28273039G>A g.28027893G>A - - OCA2_000191 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P97 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.515+10C>G r.(=) p.(=) Unknown - likely benign g.28273007G>C - OCA2(NM_000275.2):c.515+10C>G - OCA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516-3C>G r.spl? p.? Unknown - VUS g.28270051G>C - OCA2(NM_000275.3):c.516-3C>G - OCA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i_5i c.(515+1_516-1)_(573+1_574-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(28267720_28269990)_(28270049_28273016)del g.(28022574_28024844)_(28024903_28027870)del del ex5 - OCA2_000189 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P75 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 21 c.529_531del r.(?) p.(Trp177del) Parent #2 - pathogenic (recessive) g.28270034_28270036del g.28024888_28024890del - - OCA2_000190 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P128 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.537A>G r.(?) p.(Lys179=) Unknown - VUS g.28270027T>C - OCA2(NM_000275.2):c.537A>G (p.K179=) - OCA2_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566T>C r.(?) p.(Leu189Pro) Unknown - VUS g.28269998A>G - OCA2(NM_000275.2):c.566T>C (p.L189P) - OCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.573+3G>A r.spl? p.? Unknown - likely benign g.28269988C>T - OCA2(NM_000275.2):c.573+3G>A - OCA2_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.573+5G>T r.(?) p.(?) Unknown - VUS g.28269986C>A - - - OCA2_000230 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574-19A>G r.(=) p.(=) Parent #1 - VUS g.28267738T>C g.28022592T>C - - OCA2_000061 conflicting interpretations of pathogenicity; 36 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145242923 Germline - 36/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 36 Mohammed Faruq
+/. - c.586C>G r.(?) p.(Leu196Val) Parent #2 - pathogenic (recessive) g.28267707G>C g.28022561G>C - - OCA2_000188 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P109 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.593C> T r.(?) p.(Pro198Leu) Both (homozygous) - pathogenic (recessive) g.28267700G>A g.28022554G>A - - OCA2_000074 - PMID:Chuan 2021:32552135} - - Germline - - - - - DNA SEQ, MLPA - - OCA1 Pat58 PubMed: Chuan 2021 analysis 63 cases oculocutaneous albinism - - China - - - - - 1 Johan den Dunnen
?/. - c.593C>T r.(?) p.(Pro198Leu) Unknown - VUS g.28267700G>A - OCA2(NM_000275.2):c.593C>T (p.P198L), OCA2(NM_000275.3):c.593C>T (p.P198L) - OCA2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.593C>T r.(?) p.(Pro198Leu) Maternal (confirmed) ACMG pathogenic (recessive) g.28267700G>A g.28022554G>A - - OCA2_000074 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.593C>T r.(?) p.(Pro198Leu) Parent #1 ACMG pathogenic (recessive) g.28267700G>A g.28022554G>A - - OCA2_000074 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.593C>T r.(?) p.(Pro198Leu) Unknown - likely pathogenic g.28267700G>A - OCA2(NM_000275.2):c.593C>T (p.P198L), OCA2(NM_000275.3):c.593C>T (p.P198L) - OCA2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.593C>T r.(?) p.(Pro198Leu) Parent #1 ACMG pathogenic g.28267700G>A - - - OCA2_000074 - - - - Germline - - - - - DNA SEQ-ON BLOOD - OCA alb0064 - - - - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 6 c.593del r.(?) p.(Pro198ArgfsTer20) Parent #2 - pathogenic (recessive) g.28267701del g.28022555del - - OCA2_000187 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P185 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 19 c.602_619del r.(?) p.(Gly201_Leu207delinsVal) Parent #2 - pathogenic (recessive) g.28267674_28267691del g.28022528_28022545del - - OCA2_000186 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P129 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.619_636del r.(?) p.(Leu207_Leu212del) Parent #1 - pathogenic (recessive) g.28267661_28267678del g.28022515_28022532del - - OCA2_000212 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam51PatI PubMed: Jackson 2020 - F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.619_636del r.(?) p.(Leu207_Leu212del) Both (homozygous) - pathogenic (recessive) g.28267661_28267678del g.28022515_28022532del - - OCA2_000212 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam24075 PubMed: Jackson 2020 - - - - Africa;black - - - - 1 Johan den Dunnen
+/. - c.619_636del r.(?) p.(Leu207_Leu212del) Parent #2 - pathogenic (recessive) g.28267661_28267678del g.28022515_28022532del - - OCA2_000212 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25824 PubMed: Jackson 2020 - - - - Caribbean;black - - - - 1 Johan den Dunnen
+/. 6 c.628del r.(?) p.(Ser210HisfsTer8) Both (homozygous) - pathogenic (recessive) g.28267665del g.28022519del - - OCA2_000185 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P53 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.631C>G r.(?) p.(Pro211Ala) Parent #2 - pathogenic (recessive) g.28267662G>C g.28022516G>C - - OCA2_000085 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-109-279 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 6 c.631C>G r.(?) p.(Pro211Ala) Maternal (confirmed) - pathogenic (recessive) g.28267662G>C g.28022516G>C - - OCA2_000085 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P76 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.632C>T r.(?) p.(Pro211Leu) Unknown - likely pathogenic g.28267661G>A g.28022515G>A OCA2(NM_000275.2):c.632C>T (p.P211L), OCA2(NM_000275.3):c.632C>T (p.P211L) - OCA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632C>T r.(?) p.(Pro211Leu) Unknown - VUS g.28267661G>A g.28022515G>A OCA2(NM_000275.2):c.632C>T (p.P211L), OCA2(NM_000275.3):c.632C>T (p.P211L) - OCA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.632C>T r.(?) p.(Pro211Leu) Parent #1 - pathogenic (recessive) g.28267661G>A g.28022515G>A - - OCA2_000052 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P106 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.632C>T r.(?) p.(Pro211Leu) Parent #1 - pathogenic (recessive) g.28267661G>A g.28022515G>A - - OCA2_000052 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P114 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.632C>T r.(?) p.(Pro211Leu) Paternal (confirmed) - pathogenic (recessive) g.28267661G>A g.28022515G>A - - OCA2_000052 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P145 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.632C>T r.(?) p.(Pro211Leu) Parent #1 - pathogenic (recessive) g.28267661G>A g.28022515G>A - - OCA2_000052 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P183 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.632C>T r.(?) p.(Pro211Leu) Parent #2 - pathogenic (recessive) g.28267661G>A g.28022515G>A - - OCA2_000052 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P103 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.646T>C r.(?) p.(Ser216Pro) Both (homozygous) - pathogenic (recessive) g.28267647A>G g.28022501A>G - - OCA2_000184 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P181 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6i c.646+5C>G r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.28267642G>C g.28022496G>C - - OCA2_000183 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.647-38_807+40del r.(?) p.(?) Unknown - likely pathogenic g.28263505_28263743del g.28018359_28018597del chr15:28263504-28263742 deletion; p.? - OCA2_000086 no Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - OCA2 251 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.647-4C>T r.spl? p.? Unknown - likely benign g.28263707G>A g.28018561G>A OCA2(NM_000275.2):c.647-4C>T - OCA2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.647-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.28263704C>T g.28018558C>T - - OCA2_000182 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P96 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.(646+1_647-1)_(807+1_808-1)del r.spl p.(?) Both (homozygous) ACMG pathogenic g.? g.? OCA2 exon 7 deletion hom - IGF1R_000000 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16023117 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.(646+1_647-1)_(807+1_808-1)del r.spl p.(?) Both (homozygous) ACMG pathogenic g.? g.? OCA2 exon 7 deletion hom - IGF1R_000000 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 17018603 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 6i_7i c.(646+1_647-1)_(807+1_808-1)del r.? p.? Maternal (confirmed) ACMG pathogenic (recessive) g.(28261333_28263542)_(28263704_28267646)del g.(28016187_28018396)_(28018558_28022500)del del ex7 - IGF1R_000000 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P4 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6i_7i c.(646+1_647-1)_(807+1_808-1)del r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.(28261333_28263542)_(28263704_28267646)del g.(28016187_28018396)_(28018558_28022500)del del ex7 - IGF1R_000000 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
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This database is one of the ”Eye disease” gene variant databases


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