Full data view for gene GPR143

Information The variants shown are described using the NM_000273.2 transcript reference sequence.

165 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     
+/. _1_8i c.-148_(1120+1_1121-1){0} r.0? p.0? Unknown - pathogenic g.(9693881_9707524)_(9734005_?)del g.(9725841_9739484)_(9765965_?)del del ex1-8 - GPR143_000069 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P22 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-148_*333{0} r.0? p.0? Unknown - pathogenic g.(?_9693453)_(9734005_?)del g.(?_9725413)_(9765965_?)del del ex1-9 - GPR143_000068 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-148_*333{0} r.0? p.0? Paternal (confirmed) - pathogenic g.(?_9693453)_(9734005_?)del g.(?_9725413)_(9765965_?)del DelGPR143-SHROOM2 - GPR143_000068 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P19/TYRP1-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.-743509_*3945004del r.0? p.0? Unknown ACMG VUS g.5748782_10477366del g.5830745_10559329del chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous - NLGN4X_000080 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - clinical exome sequencing | aCGH retinal disease RP-1018 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
-?/. - c.-14C>T r.(?) p.(=) Unknown - likely benign g.9733871G>A - - - GPR143_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_9_ c.-148_*333{0} r.? p.? Unknown - pathogenic g.(?_3489126)_(10217107_?)del - 3,489,126_10,217,107del - GPR143_000068 Xp22.3 deletion incl. NLCX4X, STS, KAL1 and GPR143 PubMed: Moon 2021 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - gene panel retinal disease Pat47 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.251-?_c.455+?del r.spl? p.? Unknown ACMG pathogenic g.9727372_9728866del - - - GPR143_000048 - - - - Germline - - - - - DNA SEQ-NG-I - - albinism 3991627 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.251-?_c.455+?del r.spl? p.? Unknown ACMG VUS g.9727372_9728866del - - - GPR143_000048 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 3991627 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.251-?_c.455+?del r.spl? p.? Unknown ACMG VUS g.9727372_9728866del - - - GPR143_000048 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 5615681 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.251-?_c.658+?del r.spl? p.? Unknown ACMG VUS g.9714084_9728866del - - - GPR143_000049 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 7465552 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 2i_3i c.? r.? p.? Unknown - pathogenic g.(9716707_9727371)_(9727467_9728756)del g.(9748667_9759331)_(9759427_9760716)del del ex3 - USP9X_000005 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.? r.? p.? Unknown - pathogenic g.(9733607_9734005)? g.(9765567_9765965)? ex1 rearrangement - USP9X_000005 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P23 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.? r.? p.? Unknown - pathogenic g.(9733607_9734005)? g.(9765567_9765965)? ex1 rearrangement - USP9X_000005 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P25 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3i_4i c.? r.? p.? Unknown - pathogenic g.(9714194_9716613)_(9716707_9727371)del g.(9746154_9748573)_(9748667_9759331)del del ex4 - USP9X_000005 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P26 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.? r.? p.? Unknown - pathogenic g.(9733607_9734005)? g.(9765567_9765965)? ex1 rearrangement - USP9X_000005 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P29 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.1A>C r.(?) p.? Unknown - likely pathogenic g.9733857T>G - GPR143(NM_000273.3):c.1A>C (p.(Met1?)) - GPR143_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.9733856A>G g.9765816A>G c.2A>G, p.(Met1Thr) - GPR143_000066 error in annotation: c.2A>G instead of T>C, hemizygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes OA1 14216 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 1 c.6del r.(?) p.(Ser3ProfsTer4) Unknown - pathogenic g.9733853del g.9765813del - - GPR143_000100 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.8C>T r.(?) p.(Ser3Phe) Unknown ACMG VUS g.9733850G>A - - - GPR143_000061 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 9267344 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 1 c.11C>G r.(?) p.(Pro4Arg) Paternal (confirmed) - pathogenic g.9733847G>C g.9765807G>C - - GPR143_000098 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P16 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.11C>G r.(?) p.(Pro4Arg) Maternal (inferred) - pathogenic (recessive) g.9733847G>C g.9765807G>C - - GPR143_000098 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam52PatI PubMed: Jackson 2020 - M - - Caribbean;black - - - - 1 Johan den Dunnen
+/. 1 c.11del r.(?) p.(Pro4ArgfsTer3) Paternal (confirmed) - pathogenic g.9733850del g.9765810del - - GPR143_000099 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.13C>T r.(?) p.(Arg5Cys) Unknown - likely pathogenic g.9733845G>A g.9765805G>A - - GPR143_000042 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 995 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 1 c.13C>T r.(?) p.(Arg5Cys) Unknown - pathogenic g.9733845G>A g.9765805G>A - - GPR143_000042 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.13C>T r.(?) p.(Arg5Cys) Unknown - pathogenic g.9733845G>A g.9765805G>A - - GPR143_000042 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.13C>T r.(?) p.(Arg5Cys) Unknown - pathogenic g.9733845G>A - GPR143(NM_000273.3):c.13C>T (p.R5C) - GPR143_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.14G>C r.(?) p.(Arg5Pro) Unknown ACMG VUS g.9733844C>G - - - GPR143_000045 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism IR_GH_0028 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.14G>C r.(?) p.(Arg5Pro) Unknown ACMG VUS g.9733844C>G - - - GPR143_000045 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism IR_GH_0166 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.14G>C r.(?) p.(Arg5Pro) Unknown ACMG VUS g.9733844C>G - - - GPR143_000045 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism IR_GH_0166 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 1 c.14G>C r.(?) p.(Arg5Pro) Unknown - pathogenic g.9733844C>G g.9765804C>G - - GPR143_000045 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P35 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.29G>A r.(?) p.(Cys10Tyr) Unknown - pathogenic g.9733829C>T g.9765789C>T - - GPR143_000097 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P27 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.47C>A r.(?) p.(Ala16Glu) Unknown - likely benign g.9733811G>T - GPR143(NM_000273.2):c.47C>A (p.A16E) - GPR143_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.52_59dup r.(?) p.(Val21Argfs*5) Unknown - pathogenic g.9733799_9733806dup - - - GPR143_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.55C>T r.(?) p.(Gln19*) Unknown - likely pathogenic g.9733803G>A g.9765763G>A c.55G>A, p.(Gln19*) - GPR143_000065 error in annotation: c.55G>A instead of C>T, hemizygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes OA1 14395 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 1 c.87_88dup r.(?) p.(His30Profs*58) Unknown - likely pathogenic g.9733770_9733771dup g.9765730_9765731dup 87_88dupCC - GPR143_000002 - - - - Germline - - - - - DNA SEQ - - OA1 - - - M - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.113G>C r.(?) p.(Gly38Ala) Unknown - likely benign g.9733745C>G - GPR143(NM_000273.2):c.113G>C (p.G38A) - GPR143_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131G>A r.(?) p.(Gly44Asp) Unknown - VUS g.9733727C>T g.9765687C>T GPR143(NM_000273.2):c.131G>A (p.G44D) - GPR143_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.155_161del r.(?) p.(Arg52ProfsTer33) Paternal (confirmed) - pathogenic g.9733703_9733709del g.9765663_9765669del - - GPR143_000096 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P42 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.162del r.(?) p.(Ala55ArgfsTer32) Unknown - pathogenic g.9733698del g.9765658del - - GPR143_000095 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P17 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.169_170insGCGGGCCC r.(?) p.(Pro57ArgfsTer33) Paternal (confirmed) - pathogenic g.9733690_9733691insGCCCGCGG g.9765650_9765651insGCCCGCGG - - GPR143_000094 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.180dup r.(?) p.(Ala61ArgfsTer40) Maternal (inferred) - pathogenic (recessive) g.9733682dup g.9765642dup - - GPR143_000110 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam24336 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 1 c.214_232del r.(?) p.(Arg72ThrfsTer9) Paternal (confirmed) - pathogenic g.9733627_9733645del g.9765587_9765605del - - GPR143_000092 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P37 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.223_228dup r.(?) p.(Ala75_Ala76dup) Unknown ACMG VUS g.9733637_9733642dup g.9765597_9765602dup 223_228dupGCTGCC - GPR143_000059 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 7638939 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.223_228dup r.(?) p.(Ala75_Ala76dup) Unknown - likely pathogenic g.9733637_9733642dup g.9765597_9765602dup 223_228dupGCTGCC - GPR143_000059 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat48 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. 1 c.227_228insGCTGCC r.(?) p.(Ala76_Cys77insLeuPro) Paternal (confirmed) - pathogenic g.9733631_9733632insGCAGCG g.9765591_9765592insGCAGCG - - GPR143_000093 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P4 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.227_228insGCTGCC r.(?) p.(Ala76_Cys77insLeuPro) Unknown - pathogenic g.9733631_9733632insGCAGCG g.9765591_9765592insGCAGCG - - GPR143_000093 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P12 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.232G>A r.(?) p.(Asp78Asn) Unknown ACMG pathogenic g.9733626C>T g.9765586C>T - - GPR143_000117 ACMG PP3, PM2, PM5_SUPPORTING, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? MISC-269 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.236T>C r.(?) p.(Leu79Pro) Unknown - pathogenic g.9733622A>G g.9765582A>G - - GPR143_000091 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P48 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.238_240del r.(?) p.(Leu80del) Maternal (inferred) - pathogenic (recessive) g.9733618_9733620del g.9765578_9765580del 238-240del - GPR143_000109 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam14259 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 1 c.241G>C r.(?) p.(Gly81Arg) Unknown - pathogenic g.9733617C>G g.9765577C>G - - GPR143_000090 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.241G>C r.(?) p.(Gly81Arg) Paternal (confirmed) - pathogenic g.9733617C>G g.9765577C>G - - GPR143_000090 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P32 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.241G>C r.(?) p.(Gly81Arg) Paternal (confirmed) - pathogenic g.9733617C>G g.9765577C>G - - GPR143_000090 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P34 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.241G>T r.(?) p.(Gly81Cys) Paternal (confirmed) - pathogenic g.9733617C>A g.9765577C>A - - GPR143_000089 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.242G>T r.(?) p.(Gly81Val) Paternal (confirmed) - pathogenic g.9733616C>A g.9765576C>A - - GPR143_000088 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism GPR143-P9 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.248T>C r.(?) p.(Leu83Pro) Unknown ACMG VUS g.9733610A>G - - - GPR143_000047 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism IR_GH_0171 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.248T>C r.(?) p.(Leu83Pro) Unknown ACMG VUS g.9733610A>G - - - GPR143_000047 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 1757721 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.248T>C r.(?) p.(Leu83Pro) Maternal (confirmed) - likely pathogenic g.9733610A>G g.9765570A>G c.248A>G , p.(Leu83Pro) - GPR143_000047 error in annotation: c.248A>G instead of T>C, hemizygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes OA1 13302 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.248T>C r.(?) p.(Leu83Pro) Unknown - likely pathogenic g.9733610A>G g.9765570A>G - - GPR143_000047 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat43 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.251-1G>C r.spl p.? Maternal (inferred) - pathogenic (recessive) g.9728867C>G g.9760827C>G - - GPR143_000108 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam17466 PubMed: Jackson 2020 - - - India Asia - - - - 1 Johan den Dunnen
+?/. 1i_2i c.(250+1_251-1)_(360+1_361-1)del r.? p.(Gly84Aspfs*65) Maternal (inferred) - likely pathogenic g.(9727467_9728756)_(9728867_9733607)del g.(9759427_9760716)_(9760827_9765567)del del ex2 (311_420del) - GPR143_000115 - - - - Germline - - - - - DNA MLPA BLOOD - OA1 - - - M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+?/. 1i_3i c.(250+1_251-1)_(455+1_456-1)del r.? p.? Maternal (inferred) - likely pathogenic g.(9716707_9727371)_(9728867_9733607)del g.(9748667_9759331)_(9760827_9765567)del del ex2-3 - GPR143_000116 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat18 PubMed: Rim 2017 - M - Korea - - - - - 1 LOVD
+?/. 1i_3i c.(250+1_251-1)_(455+1_456-1)del r.? p.? Maternal (inferred) - likely pathogenic g.(9716707_9727371)_(9728867_9733607)del g.(9748667_9759331)_(9760827_9765567)del del ex2-3 - GPR143_000116 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat19 PubMed: Rim 2017 - M - Korea - - - - - 1 LOVD
+?/. - c.251G>A r.(?) p.(Gly84Asp) Unknown - likely pathogenic g.9728866C>T - GPR143(NM_000273.3):c.251G>A (p.G84D) - GPR143_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251G>A r.(?) p.(Gly84Asp) Unknown - likely pathogenic g.9728866C>T - GPR143(NM_000273.3):c.251G>A (p.G84D) - GPR143_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264G>A r.(?) p.(Arg88=) Unknown - likely benign g.9728853C>T - GPR143(NM_000273.2):c.264G>A (p.R88=) - GPR143_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271G>A r.(?) p.(Val91Met) Unknown - VUS g.9728846C>T - GPR143(NM_000273.2):c.271G>A (p.V91M) - GPR143_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.275G>A r.(?) p.(Trp92Ter) Unknown - pathogenic g.9728842C>T g.9760802C>T GPR143(NM_000273.3):c.275G>A (p.W92*) - GPR143_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.294T>C r.(?) p.(Phe98=) Unknown - benign g.9728823A>G g.9760783A>G GPR143(NM_000273.2):c.294T>C (p.F98=), GPR143(NM_000273.3):c.294T>C (p.F98=) - GPR143_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294T>C r.(?) p.(Phe98=) Unknown - likely benign g.9728823A>G g.9760783A>G GPR143(NM_000273.2):c.294T>C (p.F98=), GPR143(NM_000273.3):c.294T>C (p.F98=) - GPR143_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324G>A r.(?) p.(Thr108=) Unknown - likely benign g.9728793C>T - GPR143(NM_000273.2):c.324G>A (p.T108=) - GPR143_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.344dup r.(?) p.(Cys116LeufsTer70) Unknown - pathogenic g.9728775dup g.9760735dup - - GPR143_000087 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P45 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. 2 c.349del r.(?) p.(Val117Trpfs*28) Maternal (inferred) ACMG pathogenic g.9728768del g.9760728del - - GPR143_000114 - - - - Germline - - - - - DNA SEQ-NG BLOOD - OA1 alb0052 - - - - India indian - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2 c.352G>A r.(?) p.(Gly118Arg) Unknown - pathogenic g.9728765C>T g.9760725C>T - - GPR143_000086 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P28 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2i c.360+1G>A r.spl p.? Unknown - pathogenic g.9728756C>T g.9760716C>T - - GPR143_000085 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P44 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.360+2T>C r.spl p.? Unknown ACMG VUS g.9728755A>G - - - GPR143_000058 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 5386855 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.360+2T>C r.(?) p.? Unknown - pathogenic g.9728755A>G g.9760715A>G - - GPR143_000058 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat44 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
-/. - c.360+13C>G r.(=) p.(=) Unknown - benign g.9728744G>C - - - GPR143_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.360+236G>A r.(=) p.(=) Maternal (inferred) - VUS g.9728521C>T g.9760481C>T - - GPR143_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.360+236G>A r.(=) p.(=) Maternal (inferred) - VUS g.9728521C>T g.9760481C>T - - GPR143_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.361-6T>C r.(=) p.(=) Unknown - likely benign g.9727472A>G - GPR143(NM_000273.2):c.361-6T>C - GPR143_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.361-4_361-3delinsAG r.spl p.? Unknown - pathogenic g.9727469_9727470delinsCT g.9759429_9759430delinsCT - - GPR143_000084 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P50 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.369C>T r.(?) p.(Ile123=) Unknown - benign g.9727458G>A g.9759418G>A GPR143(NM_000273.3):c.369C>T (p.I123=) - GPR143_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.371A>G r.(?) p.(Gln124Arg) Unknown - likely benign g.9727456T>C g.9759416T>C GPR143(NM_000273.2):c.371A>G (p.Q124R) - GPR143_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.371A>G r.(?) p.(Gln124Arg) Unknown - pathogenic g.9727456T>C g.9759416T>C - - GPR143_000029 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P39 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.371A>G r.(?) p.(Gln124Arg) Paternal (confirmed) - pathogenic g.9727456T>C g.9759416T>C - - GPR143_000029 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P47 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.443C>T r.(?) p.(Ser148Leu) Unknown - VUS g.9727384G>A - GPR143(NM_000273.2):c.443C>T (p.S148L) - GPR143_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456-9G>C r.(=) p.(=) Unknown - benign g.9716715C>G g.9748675C>G GPR143(NM_000273.3):c.456-9G>C - GPR143_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.456-3T>G r.spl p.? Unknown - pathogenic g.9716709A>C g.9748669A>C - - GPR143_000083 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - albinism GPR143-P43 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.456-1G>T r.spl p.(?) Maternal (confirmed) - pathogenic g.9716707C>A g.9748667C>A c.456-1G>T, p.? - GPR143_000064 hemizygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes OA1 13169 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 4 c.463del r.(?) p.(Leu155CysfsTer63) Paternal (confirmed) - pathogenic g.9716700del g.9748660del - - GPR143_000082 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P24 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.471T>C r.(?) p.(Tyr157=) Unknown - likely benign g.9716691A>G g.9748651A>G GPR143(NM_000273.2):c.471T>C (p.Y157=) - GPR143_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.471T>G r.(?) p.(Tyr157*) Unknown ACMG pathogenic g.9716691A>C - - - GPR143_000056 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 8017593 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. - c.482C>T r.(?) p.(Ala161Val) Unknown - likely benign g.9716680G>A g.9748640G>A GPR143(NM_000273.2):c.482C>T (p.A161V) - GPR143_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496A>G r.(?) p.(Thr166Ala) Unknown - likely benign g.9716666T>C g.9748626T>C GPR143(NM_000273.2):c.496A>G (p.T166A) - GPR143_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.497C>A r.(?) p.(Thr166Asn) Unknown - pathogenic g.9716665G>T g.9748625G>T - - GPR143_000081 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism GPR143-P36 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.499del r.(?) p.(Leu167CysfsTer51) Maternal (inferred) - pathogenic (recessive) g.9716665del g.9748625del - - GPR143_000107 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam18142 PubMed: Jackson 2020 - - - India Asia - - - - 1 Johan den Dunnen
+?/. - c.514G>C r.(?) p.(Gly172Arg) Maternal (inferred) - likely pathogenic g.9716648C>G g.9748608C>G - - GPR143_000041 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat16 PubMed: Rim 2017 - M - Korea - - - - - 1 LOVD
+?/. - c.514G>C r.(?) p.(Gly172Arg) Unknown ACMG VUS g.9716648C>G - - - GPR143_000041 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 5687876 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.518C>G r.(?) p.(Ala173Gly) Unknown ACMG VUS g.9716644G>C - - - GPR143_000055 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - albinism 9026321 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.518C>G p.(Ala173Asp) p.(Ala173Gly) Unknown - likely pathogenic g.9716644G>C g.9748604G>C - - GPR143_000055 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat46 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
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This database is one of the ”Eye disease” gene variant databases


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