Full data view for gene TYRP1

Information The variants shown are described using the NM_000550.2 transcript reference sequence.

143 entries on 2 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     
+?/. - c.(?_-85-1)_(1081+1_1082-1)[3] r.spl p.(?) Unknown ACMG likely pathogenic g.? g.? TYRP1 c.1103delA p.(Lys368SerfsTer17) het TYRP1 ex1 to ex5 three copies - PTCH1_000000 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 18006521 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-/? 1i c.? r.(?) p.(?) Unknown - benign g.? - IVS1+99T/C - TYRP1_000017 - PubMed: Manga 1997 - - Unknown - - - - - DNA SEQ - - - - - - - - South Africa - - - - - 1 William (Bill) Oetting
?/? 2 c.? r.(?) p.(?) Unknown - VUS g.? - 374C>A (Arg87Arg) - TYRP1_000001 - - - rs34509359 Unknown - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/? 2 c.? r.(?) p.(?) Unknown - benign g.? - 374C>A (Arg87Arg) - TYRP1_000001 - Lynch et al., 2002 - - Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - 1 William (Bill) Oetting
+/? 3 c.? r.(?) p.(?) Parent #2 - pathogenic g.? - (c.498C>G) S166X - TYRP1_000022 - PubMed: Manga 1997 - - Unknown - 17/19 cases - - - DNA SEQ - - OCA - - - - - South Africa - - - - - 17 William (Bill) Oetting
?/? 4 c.? r.(?) p.(?) Unknown - VUS g.? - 844T>C (Ser243Ser) - TYRP1_000003 - - - rs35866166 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/? 4 c.? r.(?) p.(?) Unknown - benign g.? - 844T>C (Ser243Ser) - TYRP1_000003 - Lynch et al., 2002 - - Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - 1 William (Bill) Oetting
?/? 5 c.? r.(?) p.(?) Unknown - VUS g.? - 955delT - TYRP1_000006 - - - rs35197549 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.? r.(?) p.(?) Both (homozygous) - pathogenic g.? - (c.117C>T) R373X - TYRP1_000025 - PubMed: Forshew 2005 - - Unknown - - - - - DNA SEQ - - ? - - - - - Pakistan - - - - - 1 William (Bill) Oetting
?/? 8 c.? r.(?) p.(?) Unknown - VUS g.? - 1500A>C (Leu500Leu) - TYRP1_000010 - - - rs34060600 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/? 8 c.? r.(?) p.(?) Unknown - benign g.? - 1500A>C (Leu500Leu) - TYRP1_000010 - Manga et al., 1997 - - Unknown - - - - - DNA SEQ - - - - - - - - South Africa - - - - - 1 William (Bill) Oetting
-?/. - c.22T>A r.(?) p.(Ser8Thr) Unknown - likely benign g.12694018T>A g.12694018T>A TYRP1(NM_000550.3):c.22T>A (p.S8T) - TYRP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67C>A r.(?) p.(Arg23=) Unknown - likely benign g.12694063C>A - TYRP1(NM_000550.2):c.67C>A (p.R23=) - TYRP1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68G>T r.(?) p.(Arg23Leu) Unknown - VUS g.12694064G>T g.12694064G>T TYRP1(NM_000550.3):c.68G>T (p.R23L) - TYRP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.70G>A r.(?) p.(Ala24Thr) Parent #1 - pathogenic (recessive) g.12694066G>A g.12694066G>A - - TYRP1_000054 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.70G>A r.(?) p.(Ala24Thr) Maternal (confirmed) - pathogenic (recessive) g.12694066G>A g.12694066G>A - - TYRP1_000054 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P15 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.80C>G r.(?) p.(Pro27Arg) Unknown - likely pathogenic g.12694076C>G - - - TYRP1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.82del r.(?) p.(Arg28Aspfs*9) Unknown - pathogenic g.12694078del g.12694078del 82delA - TYRP1_000032 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - OCA3 - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/? 2 c.107del r.(?) p.(Leu36*) Parent #1 - pathogenic g.12694103del g.12694103del 106delT (L36X) - TYRP1_000019 - PubMed: Rooryck 2006 - - Unknown - - - - - DNA SEQ - - ? - - - - - Germany white - - - - 1 William (Bill) Oetting
+/. 2 c.107del r.(?) p.(Leu36Ter) Maternal (confirmed) - pathogenic (recessive) g.12694103del g.12694103del - - TYRP1_000019 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.138C>T r.(?) p.(Ser46=) Unknown - likely benign g.12694134C>T - TYRP1(NM_000550.2):c.138C>T (p.S46=) - TYRP1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140_141del r.(?) p.(Pro47ArgfsTer19) Unknown - pathogenic g.12694136_12694137del g.12694136_12694137del TYRP1(NM_000550.2):c.140_141delCT (p.P47Rfs*19), TYRP1(NM_000550.3):c.140_141delCT (p.P47Rfs*19) - TYRP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140_141del r.(?) p.(Pro47ArgfsTer19) Unknown - pathogenic g.12694136_12694137del - TYRP1(NM_000550.2):c.140_141delCT (p.P47Rfs*19), TYRP1(NM_000550.3):c.140_141delCT (p.P47Rfs*19) - TYRP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140_141del r.(?) p.(Pro47ArgfsTer19) Unknown - pathogenic g.12694136_12694137del - TYRP1(NM_000550.2):c.140_141delCT (p.P47Rfs*19), TYRP1(NM_000550.3):c.140_141delCT (p.P47Rfs*19) - TYRP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>A r.(?) p.(Ala70Thr) Unknown - VUS g.12694204G>A g.12694204G>A TYRP1(NM_000550.3):c.208G>A (p.A70T) - TYRP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.278G>A r.(?) p.(Arg93His) Unknown - benign g.12694274G>A g.12694274G>A TYRP1(NM_000550.3):c.278G>A (p.R93H, p.(Arg93His)) - TYRP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278G>A r.(?) p.(Arg93His) Unknown - likely benign g.12694274G>A g.12694274G>A TYRP1(NM_000550.3):c.278G>A (p.R93H, p.(Arg93His)) - TYRP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.294A>G r.(?) p.(Thr98=) Unknown - benign g.12694290A>G g.12694290A>G TYRP1(NM_000550.3):c.294A>G (p.T98=) - TYRP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.327C>A r.(?) p.(Asn109Lys) Unknown - VUS g.12694323C>A - TYRP1(NM_000550.3):c.327C>A (p.N109K) - TYRP1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.339C>A r.(?) p.(Cys113*) Unknown - pathogenic g.12694335C>A - - - TYRP1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.340C>T r.(?) p.(Arg114Cys) Paternal (confirmed) - pathogenic (recessive) g.12694336C>T g.12694336C>T - - TYRP1_000074 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.353G>A r.(?) p.(Arg118Lys) Unknown - likely benign g.12694349G>A g.12694349G>A TYRP1(NM_000550.2):c.353G>A (p.(Arg118Lys)) - TYRP1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395A>T r.(?) p.(Asn132Ile) Unknown ACMG VUS g.12695524A>T g.12695524A>T TYRP1 c.725_728dupCTTC p.(Ser245PhefsTer16) het TYRP1 c.395A>T p.(Asn132Ile) het - TYRP1_000071 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16010468 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.436C>T r.(?) p.(Arg146Trp) Unknown - VUS g.12695565C>T g.12695565C>T TYRP1(NM_000550.2):c.436C>T (p.R146W), TYRP1(NM_000550.3):c.436C>T (p.R146W) - TYRP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436C>T r.(?) p.(Arg146Trp) Unknown - VUS g.12695565C>T g.12695565C>T TYRP1(NM_000550.2):c.436C>T (p.R146W), TYRP1(NM_000550.3):c.436C>T (p.R146W) - TYRP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - benign g.12695566G>A g.12695566G>A TYRP1(NM_000550.3):c.437G>A (p.R146Q) - TYRP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - VUS g.12695586C>T g.12695586C>T TYRP1(NM_000550.2):c.457C>T (p.R153C), TYRP1(NM_000550.3):c.457C>T (p.R153C) - TYRP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - VUS g.12695586C>T - TYRP1(NM_000550.2):c.457C>T (p.R153C), TYRP1(NM_000550.3):c.457C>T (p.R153C) - TYRP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.457C>T r.(?) p.(Arg153Cys) Parent #2 - pathogenic (recessive) g.12695586C>T g.12695586C>T - - TYRP1_000042 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.457C>T r.(?) p.(Arg153Cys) Unknown - VUS g.12695586C>T - TYRP1(NM_000550.2):c.457C>T (p.R153C), TYRP1(NM_000550.3):c.457C>T (p.R153C) - TYRP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490A>G r.(?) p.(Arg164Gly) Unknown - VUS g.12695619A>G g.12695619A>G TYRP1(NM_000550.3):c.490A>G (p.R164G) - TYRP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578A>G r.(?) p.(Tyr193Cys) Unknown - VUS g.12695707A>G - TYRP1(NM_000550.2):c.578A>G (p.Y193C) - TYRP1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596C>G r.(?) p.(Thr199Ser) Unknown - VUS g.12695725C>G - TYRP1(NM_000550.3):c.596C>G (p.(Thr199Ser)) - TYRP1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.627T>A r.(?) p.(=) Unknown - VUS g.12695756T>A g.12695756T>A 627T>A (Gly209Gly) - TYRP1_000002 - - - rs1800374 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/? 3 c.627T>A r.(?) p.(=) Unknown - benign g.12695756T>A g.12695756T>A 627T>A (Gly209Gly) - TYRP1_000002 - PubMed: Manga 1997 - - Unknown - - - - - DNA SEQ - - - - - - - - South Africa - - - - - 1 William (Bill) Oetting
+/. 3 c.671A>G r.(?) p.(His224Arg) Paternal (confirmed) - pathogenic (recessive) g.12695800A>G g.12695800A>G - - TYRP1_000075 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.708G>T r.(?) p.(Gln236His) Unknown - VUS g.12695837G>T - TYRP1(NM_000550.3):c.708G>T (p.Q236H) - TYRP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.708+2T>C r.spl? p.? Unknown - likely pathogenic g.12695839T>C g.12695839T>C - - TYRP1_000033 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - OCA3 - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.725del r.(?) p.(Pro242LeufsTer24) Unknown - pathogenic g.12698467del g.12698467del TYRP1(NM_000550.3):c.725delC (p.P242Lfs*24) - TYRP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.725_728dupCTTC r.(?) p.(Ser245PhefsTer16) Unknown ACMG pathogenic g.12698467_12698470dup g.12698467_12698470dup TYRP1 c.725_728dupCTTC p.(Ser245PhefsTer16) het TYRP1 c.395A>T p.(Asn132Ile) het - TYRP1_000072 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16010468 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.743A>G r.(?) p.(Tyr248Cys) Unknown - VUS g.12698485A>G - TYRP1(NM_000550.3):c.743A>G (p.(Tyr248Cys)) - TYRP1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.758C>T r.(?) p.(Thr253Met) Parent #1 - pathogenic g.12698500C>T g.12698500C>T T253M - TYRP1_000028 - PubMed: Hutton 2008 - - Unknown - - - - - DNA SEQ - - OCA3 - - - - - - white - - - - 1 William (Bill) Oetting
+/. - c.781T>G r.(?) p.(Cys261Gly) Both (homozygous) - pathogenic (recessive) g.12698523T>G - - - TYRP1_000073 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P19/TYRP1-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/? 4 c.782_793del r.(?) p.(Cys261_Asp264del) Parent #1 - pathogenic g.12698524_12698535del g.12698524_12698535del 782_793delGCACGGATGACT - TYRP1_000029 - PubMed: Rooryck 2008 - - Unknown - - - - - DNA SEQ - - OCA3 - - - - - - - - - - - 1 William (Bill) Oetting
+/. 5 c.782_793del r.(?) p.(Cys261_Asp264del) Maternal (confirmed) - pathogenic (recessive) g.12698524_12698535del g.12698524_12698535del - - TYRP1_000029 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.785C>T r.(?) p.(Thr262Met) Unknown - VUS g.12698527C>T g.12698527C>T TYRP1(NM_000550.2):c.785C>T (p.T262M) - TYRP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785C>T r.(?) p.(Thr262Met) Parent #1 - VUS g.12698527C>T g.12698527C>T - - TYRP1_000060 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61752939 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.797T>G r.(?) p.(Met266Arg) Unknown - VUS g.12698539T>G - - - TYRP1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809G>A r.(?) p.(Ser270Asn) Unknown - likely benign g.12698551G>A g.12698551G>A - - TYRP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.810C>A r.(?) p.(Ser270Arg) Maternal (confirmed) - pathogenic (recessive) g.12698552C>A g.12698552C>A - - TYRP1_000076 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.913+9C>T r.(=) p.(=) Unknown - likely benign g.12698664C>T - TYRP1(NM_000550.2):c.913+9C>T - TYRP1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.915C>T r.(?) p.(Ser305=) Unknown - VUS g.12702272C>T g.12702272C>T TYRP1(NM_000550.2):c.915C>T (p.(=)) - TYRP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.919G>A r.(?) p.(Glu307Lys) Parent #1 - pathogenic (recessive) g.12702276G>A g.12702276G>A - - TYRP1_000077 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/? 5 c.922G>A r.(?) p.(Asp308Asn) Unknown - VUS g.12702279G>A g.12702279G>A D308N - TYRP1_000005 - - - rs41306053 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.977G>A r.(?) p.(Arg326His) Unknown - VUS g.12702334G>A g.12702334G>A R326H - TYRP1_000007 - - - rs16929374 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977G>A r.(?) p.(Arg326His) Parent #1 - likely benign g.12702334G>A g.12702334G>A - - TYRP1_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16929374 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.977G>A r.(?) p.(Arg326His) Unknown - VUS g.12702334G>A - TYRP1(NM_000550.2):c.977G>A (p.(Arg326His)) - TYRP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979C>T r.(?) p.(Leu327Phe) Unknown - VUS g.12702336C>T g.12702336C>T TYRP1(NM_000550.3):c.979C>T (p.L327F) - TYRP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.991C>T r.(?) p.(Gln331Ter) Parent #1 - pathogenic (recessive) g.12702348C>T g.12702348C>T - - TYRP1_000078 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P9 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.1000G>A r.(?) p.(Ala334Thr) Unknown - VUS g.12702357G>A - TYRP1(NM_000550.3):c.1000G>A (p.(Ala334Thr)) - TYRP1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029C>T r.(?) p.(Asp343=) Unknown - benign g.12702386C>T g.12702386C>T TYRP1(NM_000550.2):c.1029C>T (p.D343=), TYRP1(NM_000550.3):c.1029C>T (p.D343=) - TYRP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1029C>T r.(?) p.(Asp343=) Unknown - likely benign g.12702386C>T g.12702386C>T TYRP1(NM_000550.2):c.1029C>T (p.D343=), TYRP1(NM_000550.3):c.1029C>T (p.D343=) - TYRP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1042del r.(?) p.(Tyr348Ilefs*37) Unknown - VUS g.12702399del g.12702399del 1042delT - TYRP1_000004 - - - rs35517777 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1057_1060del r.(?) p.(Asn353ValfsTer31) Unknown - pathogenic g.12702414_12702417del g.12702414_12702417del TYRP1(NM_000550.2):c.1057_1060delAACA (p.N353Vfs*31), TYRP1(NM_000550.3):c.1057_1060delAACA (p.N353Vfs*31) - TYRP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.1057_1060del r.(?) p.(Asn353Valfs*31) Parent #1 - pathogenic g.12702414_12702417del g.12702414_12702417del 1057_1060delAACA - TYRP1_000018 - PubMed: Rooryck 2008 - - Unknown - - - - - DNA SEQ - - OCA3 - - - - - - - - - - - 1 William (Bill) Oetting
+/? 5 c.1057_1060del r.(?) p.(Asn353Valfs*31) Both (homozygous) - pathogenic g.12702414_12702417del g.12702414_12702417del 1057_1060delAACA - TYRP1_000018 - PubMed: Chiang 2009 - - Unknown - - - - - DNA SEQ - - OCA3 - - - - - India Asian - - - - 1 William (Bill) Oetting
+?/. - c.1057_1060del r.(?) p.(Asn353ValfsTer31) Unknown - likely pathogenic g.12702414_12702417del g.12702414_12702417del TYRP1(NM_000550.2):c.1057_1060delAACA (p.N353Vfs*31), TYRP1(NM_000550.3):c.1057_1060delAACA (p.N353Vfs*31) - TYRP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1057_1060del r.(?) p.(Asn353ValfsTer31) Paternal (confirmed) - pathogenic (recessive) g.12702414_12702417del g.12702414_12702417del - - TYRP1_000018 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 5 c.1066C>T r.(?) p.(Arg356Ter) Maternal (confirmed) - pathogenic (recessive) g.12702423C>T g.12702423C>T - - TYRP1_000079 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P11 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/? 5 c.1067G>A r.(?) p.(Arg356Gln) Parent #2 - pathogenic g.12702424G>A g.12702424G>A 1066G>A (R356Q) - TYRP1_000020 - PubMed: Rooryck 2006 - - Unknown - - - - - DNA SEQ - - ? - - - - - Germany white - - - - 1 William (Bill) Oetting
+/. 5 c.1067G>A r.(?) p.(Arg356Gln) Paternal (confirmed) - pathogenic (recessive) g.12702424G>A g.12702424G>A - - TYRP1_000020 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.1082-9T>C r.(=) p.(=) Unknown - likely benign g.12704517T>C - TYRP1(NM_000550.2):c.1082-9T>C - TYRP1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1082-1G>A r.spl? p.? Unknown - likely pathogenic g.12704525G>A - TYRP1(NM_000550.2):c.1082-1G>A, TYRP1(NM_000550.3):c.1082-1G>A - TYRP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1082-1G>A r.spl? p.? Unknown - VUS g.12704525G>A - TYRP1(NM_000550.2):c.1082-1G>A, TYRP1(NM_000550.3):c.1082-1G>A - TYRP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1082G>C r.(?) p.(Gly361Ala) Maternal (confirmed) - pathogenic (recessive) g.12704526G>C g.12704526G>C - - TYRP1_000080 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.1082G>C r.(?) p.(Gly361Ala) Unknown - VUS g.12704526G>C - TYRP1(NM_000550.3):c.1082G>C (p.G361A) - TYRP1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1101del r.(?) p.(Lys368Serfs*17) Unknown - pathogenic (recessive) g.12704545del - 9:12704544GA>G ENST00000388918.5:c.1103delA (Lys368SerfsTer17) - TYRP1_000067 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS ? G005520 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+/? 6 c.1103del r.(?) p.(Lys368Serfs*17) Parent #1 - pathogenic g.12704547del g.12704547del 1104delA - TYRP1_000021 - PubMed: Boissy 1996 - - Unknown - - - - - DNA SEQ - - OCA - - - - - United States African American - - - - 1 William (Bill) Oetting
+/? 6 c.1103del r.(?) p.(Lys368Serfs*17) Parent #1 - pathogenic g.12704547del g.12704547del 1104delA - TYRP1_000021 - PubMed: Manga 1997 - - Unknown - 17/19 cases - - - DNA SEQ - - OCA - - - - - South Africa - - - - - 17 William (Bill) Oetting
+/? 6 c.1103del r.(?) p.(Lys368Serfs*17) Parent #1 - pathogenic g.12704547del g.12704547del 1104delA - TYRP1_000021 - PubMed: Manga 1997 - - Unknown - 2/19 cases - - - DNA SEQ - - OCA - - - - - South Africa - - - - - 2 William (Bill) Oetting
+?/. - c.1103del r.(?) p.(Lys368SerfsTer17) Unknown ACMG likely pathogenic g.12704547del g.12704547del TYRP1 c.1103delA p.(Lys368SerfsTer17) het TYRP1 ex1 to ex5 three copies - TYRP1_000021 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 18006521 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1103del r.(?) p.(Lys368Serfs*17) Unknown - pathogenic g.12704547del g.12704547del TYRP1 c.1103delA, p.Lys368SerfsTer17 - TYRP1_000021 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005520 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 6 c.1103del r.(?) p.(Lys368SerfsTer17) Both (homozygous) - pathogenic (recessive) g.12704547del g.12704547del - - TYRP1_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.1117G>A r.(?) p.(Val373Ile) Unknown - benign g.12704561G>A g.12704561G>A TYRP1(NM_000550.3):c.1117G>A (p.V373I) - TYRP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.1120C>T r.(?) p.(Arg374*) Parent #1 - pathogenic g.12704564C>T g.12704564C>T - - TYRP1_000023 - PubMed: Forshew 2005 - - Unknown - - - - - DNA SEQ - - OCA3 - - - - - - - - - - - 1 William (Bill) Oetting
+/. - c.1120C>T r.(?) p.(Arg374*) Unknown - pathogenic g.12704564C>T - TYRP1(NM_000550.2):c.1120C>T (p.R374*) - TYRP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1133A>C r.(?) p.(Asn378Thr) Paternal (confirmed) - pathogenic (recessive) g.12704577A>C g.12704577A>C - - TYRP1_000081 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 6 c.1133A>C r.(?) p.(Asn378Thr) Maternal (confirmed) - pathogenic (recessive) g.12704577A>C g.12704577A>C - - TYRP1_000081 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism TYRP1-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.1138G>T r.(?) p.(Ala380Ser) Parent #1 - VUS g.12704582G>T g.12704582G>T - - TYRP1_000061 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184910238 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 6 c.1141C>T r.(?) p.(His381Tyr) Maternal (confirmed) - pathogenic (recessive) g.12704585C>T g.12704585C>T - - TYRP1_000082 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism TYRP1-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
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