Full data view for gene PAX6

Information The variants shown are described using the NM_000280.3 transcript reference sequence.

299 entries on 3 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     
+?/. - - r.? p.? Unknown - likely pathogenic (dominant) g.31031082_31704996del g.31009535_31683449del g.31009535_31683449del - PAX6_000878 del PAX6 downstream regulatory region PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1190 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - - r.? p.? Unknown - likely pathogenic (dominant) g.31140508_31738346del g.31118961_31716799del g.31118961_31716799del - PAX6_000878 del PAX6 downstream regulatory region PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1361 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - - r.? p.? Unknown - likely pathogenic (dominant) g.30859428_31701585del g.30837881_31680038del g.30837881_31680038del - PAX6_000878 del PAX6 downstream regulatory region PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1646 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 13_ c.*180_*5142{0} r.? p.? Unknown - likely pathogenic (dominant) g.(?_31675779)_(31685705_31811302)del g.(?_31654231)_(31664157_31789754)del del SIMO - PAX6_000880 deletion of SIMO enhancer PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA PCR - - AN RPID1201 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_13_ c.-533_*5142inv{1} r.0? p.0? Unknown - likely pathogenic (dominant) g.31723012_36615048inv g.31701464_36593500inv g.31701464_36593500inv - PAX6_000881 4.9Mb inversion separating PAX6 from downstream regulatory region; breakpoints in ELP4 and RAG2 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID774 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_13_ c.-533_*5142{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.31735622_31926723del g.31714074_31905175del g.31714074_31905175del - PAX6_000882 c.-533_*5142{0} PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID724 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 11i_13_ c.1032+734_*5142{1} r.? p.? Unknown - likely pathogenic (dominant) g.24500578_31814252inv g.24479030_31792704inv g.24479030_31792704inv - PAX6_000879 7.3Mb inversion 11p13-11p14.3 with intragenic PAX6 breakpoint PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID535 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 4i_13_ c.11-907_*5142{0} r.? p.? Unknown - likely pathogenic (dominant) g.31784515_31825289del g.31762967_31803741del g.31762967_31803741del - PAX6_000883 deletion incl. ELP4 and PAX6 PubMed: Hall 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS AN RPID2464 PubMed: Hall 2024 2-generation family, 2 affected half-brothers - - - - - - - - 2 Johan den Dunnen
+?/. 8i_13_ c.524-1228_*12912del r.? p.? Unknown - likely pathogenic (dominant) g.31798570_31817564del g.31777022_31796016del g.31777022_31796016del - PAX6_000884 C-termini of both ELP4 and PAX6 (intron 8 onwards) PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1496 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_4i c.-533_10+902inv{1} r.0? p.0? Unknown - likely pathogenic (dominant) g.[31827048_31833130inv;31833131_31863605del] g.[31805500_31811582inv;31811583_31842057del] 46,XX t(1;9)(p36.1;q22) - PAX6_000890 N-terminus of PAX6 up to intron 4 PubMed: Hall 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS AN RPID356 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.-134A>T r.(?) p.(=) Unknown - likely benign g.31832381T>A - - - PAX6_000814 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-133_-132del r.? p.? Unknown ACMG VUS g.31832379_31832380del g.31810831_31810832del -133_-132delTA - PAX6_000805 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 8265095 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. - c.-129+9G>A r.(=) p.(=) Parent #1 - likely benign g.31832367C>T g.31810819C>T - - PAX6_000772 57 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56139994 Germline - 57/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 57 Mohammed Faruq
-?/. - c.-129+9G>A r.(=) p.(=) Both (homozygous) - likely benign g.31832367C>T g.31810819C>T - - PAX6_000772 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56139994 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.-129+9G>A r.(=) p.(=) Unknown - benign g.31832367C>T - PAX6(NM_001368905.2):c.-910+9G>A - PAX6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-129+9G>A r.(=) p.(=) Unknown - likely benign g.31832367C>T - PAX6(NM_001368905.2):c.-910+9G>A - PAX6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-128-358_-128-357insAC r.(=) p.(=) Unknown - likely benign g.31828831_31828832insTG - PAX6(NM_001368891.2):c.-129+7_-129+8insAC - PAX6_000876 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-128-7G>T r.(=) p.(=) Unknown - likely benign g.31828480C>A - - - PAX6_000858 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-128-2del r.spl? p.? Unknown - pathogenic g.31828475del - - - PAX6_000857 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.-128-2del r.spl p.? Unknown - likely pathogenic (dominant) g.31828475del g.31806927del IVS2-2del - PAX6_000857 ACMG PM2, PS4 mod, PP3, PP4 mod PubMed: Hall 2024 VCV000430969.2 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1500 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+/. 2i c.-128-2del r.spl p.? Unknown - pathogenic (dominant) g.31828475del g.31806927del IVS2-2del - PAX6_000857 ACMG PM2, PS4 mod, PP3, PS2, PP4 mod PubMed: Hall 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS AN RPID5645 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.-52+1G>A r.spl? p.? Unknown - pathogenic g.31828396C>T - - - PAX6_000784 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.-52+1G>C r.spl p.? Unknown - likely pathogenic (dominant) g.31828396C>G g.31806848C>G IVS3+1G>C - PAX6_000891 ACMG PM2, PS1 supp, PP3, PP4 mod* PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID877 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 3i c.-52+1G>T r.spl p.? Unknown - likely pathogenic (dominant) g.31828396C>A g.31806848C>A IVS3+1G>T - PAX6_000892 ACMG PM2, PS4 supp, PP3, PS1 supp, PP4 mod* PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1019 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - - r.? p.? Parent #1 - likely pathogenic (dominant) g.31786968_31799611dup g.31765420_31778063dup g.31765420_31778063dup31780738_31796994del - PAX6_000878 variant affects PAX6 and ELP4 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1271 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 6i_13_ c.524-2206_*5142{0} r.? p.? Parent #1 - likely pathogenic (dominant) g.31802286_31818542del g.31780738_31796994del g.31765420_31778063dup31780738_31796994del - PAX6_000877 variant affects PAX6 and ELP4 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1271 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - NM_001368900.1:c.142-3T>C - PAX6_000703 - PubMed: Ehrenberg 2021 - - Germline - - - - - DNA SEQ - - ? Pat20 PubMed: Ehrenberg 2021 - M - France;Italy;England;Sweden;Poland Jewish - - - - 1 Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) Unknown - pathogenic g.31827958A>C g.31806410A>C PAX6 c.2T>G, - - PAX6_000827 heterozygous PubMed: Bell 2021 - - De novo yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.10+1G>C r.spl p.? Unknown ACMG pathogenic g.31827949C>G - - - PAX6_000783 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.10+5G>C r.spl? p.? Unknown ACMG VUS g.31827945C>G - - - PAX6_000801 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0179 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. - c.10+8C>T r.(=) p.(=) Unknown - likely benign g.31827942G>A g.31806394G>A PAX6(NM_000280.3):c.10+8C>T - PAX6_000727 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.11-2A>G r.spl p.(?) Unknown - likely pathogenic g.31824384T>C g.31802836T>C c.11-2A>G, p.(?) - PAX6_000821 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood eye disease enrichment panel, see paper CCTRCT 3_IV-1 PubMed: Wang 2019 Family 3, individual IV-1 M - China - - - - - 1 LOVD
+/. - c.(10+1_11-1)_(*1_?)del r.? p.? Unknown - pathogenic g.(?_31811481)_(31824383_31827949)del g.(?_31789933)_(31802835_31806401)del NM_001604.5:(10+1_11-1)_(1311_?)del - PAX6_000798 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4212 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
-/. - c.13C>G r.(?) p.(His5Asp) Unknown - benign g.31824380G>C g.31802832G>C - - PAX6_000900 - PubMed: Plachy 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES stature, short Pat13 PubMed: Plachy 2019 - M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 5 c.19G>T r.(?) p.(Gly7*) Unknown - pathogenic g.31824374C>A g.31802826C>A - - PAX6_000704 - PubMed: Han 2018 - - De novo - - - - - DNA SEQ-NG-I - - DD 30631761-Pat41_S5 PubMed: Han 2018 - - - Korea - - - - - 1 Joonhong Park
?/. - c.26A>T r.(?) p.(Asn9Ile) Unknown - VUS g.31824367T>A - PAX6(NM_000280.3):c.26A>T (p.N9I) - PAX6_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.33del r.(?) p.(Gly12Valfs*19) Parent #1 - pathogenic g.31824360del g.31802812del - - PAX6_000100 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 5 c.52G>A r.(?) p.(Gly18Arg) Parent #1 - pathogenic g.31824341C>T g.31802793C>T - - PAX6_000308 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.52G>A r.(?) p.(Gly18Arg) Unknown - pathogenic g.31824341C>T - - - PAX6_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.52G>A r.(?) p.(Gly18Arg) Maternal (confirmed) - likely pathogenic (dominant) g.31824341C>T g.31802793C>T - - PAX6_000308 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam10 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.52G>A r.(?) p.(Gly18Arg) Unknown - pathogenic (dominant) g.31824341C>T g.31802793C>T - - PAX6_000308 - PubMed: Reichsteiner 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam13PatII1 PubMed: Reichsteiner 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Switzerland - - - - - 1 Johan den Dunnen
+?/. - c.52G>A r.(?) p.(Gly18Arg) Maternal (confirmed) - likely pathogenic (dominant) g.31824341C>T g.31802793C>T NM_001310158.1:c.52G>A (Gly18Arg) - PAX6_000308 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam123Pat326 PubMed: Liu 2023 2-generation family, affected mother/daughter F - China - - - - - 2 Johan den Dunnen
+?/. - c.52G>A r.(?) p.(Gly18Arg) Unknown - likely pathogenic (dominant) g.31824341C>T g.31802793C>T NM_001310158.1:c.52G>A (Gly18Arg) - PAX6_000308 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam123Pat328 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
?/. - c.52G>C r.(?) p.(Gly18Arg) Unknown - VUS g.31824341C>G g.31802793C>G PAX6(NM_001310158.1):c.52G>C (p.G18R) - PAX6_000769 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.55C>T r.(?) p.(Arg19Trp) Unknown ACMG likely pathogenic g.31824338G>A g.31802790G>A - - PAX6_000770 ACMG: PM2,PM5,PP1,PP3; Vincent et al. 2003. Eur J Hum Genet 11: 163 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.62T>C r.(?) p.(Leu21Pro) Unknown - VUS g.31824331A>G - PAX6(NM_001310158.1):c.62T>C (p.L21P) - PAX6_000840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72C>T r.(?) p.(=) Unknown - likely benign g.31824321G>A g.31802773G>A PAX6(NM_001310158.1):c.72C>T (p.S24=) - PAX6_000765 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.76C>T r.(?) p.(Arg26Trp) Unknown - pathogenic (dominant) g.31824317G>A g.31802769G>A - - PAX6_000864 - PubMed: Patel 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1895 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+/. - c.77G>A r.(?) p.(Arg26Gln) Unknown - pathogenic (dominant) g.31824316C>T g.31802768C>T - - PAX6_000854 - PubMed: Fernandez-Alcalde 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam22 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.80del r.(?) p.(Gln27Argfs*4) Unknown - pathogenic g.31824313del - - - PAX6_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.88del r.(?) p.(Val30*) Paternal (confirmed) - likely pathogenic (dominant) g.31824305del g.31802757del NM_001310158.1:c.88del (Val30*fs*1) - PAX6_000869 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam148Pat393 PubMed: Liu 2023 2-generation family, affected father/son M - China - - - - - 2 Johan den Dunnen
+?/. - c.88del r.(?) p.(Val30*) Unknown - likely pathogenic (dominant) g.31824305del g.31802757del NM_001310158.1:c.88del (Val30*fs*1) - PAX6_000869 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam148Pat395 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
-?/. - c.90A>G r.(?) p.(=) Unknown - likely benign g.31824303T>C g.31802755T>C PAX6(NM_000280.4):c.90A>G (p.(=)) - PAX6_000764 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106del r.(?) p.(Ala37Profs*17) Paternal (confirmed) - pathogenic (dominant) g.31824287del g.31802739del NM_001310158.1:c.109del (Ala37Profs31) - PAX6_000868 - PubMed: Liu 2023 rs1057517780 rs1057517780 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam3Pat14 PubMed: Liu 2023 2-generation family, affected father/daughter F - China - - - - - 2 Johan den Dunnen
+/. - c.106del r.(?) p.(Ala37Profs*17) Unknown - pathogenic (dominant) g.31824287del g.31802739del NM_001310158.1:c.109del (Ala37Profs31) - PAX6_000868 - PubMed: Liu 2023 rs1057517780 rs1057517780 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam3Pat15 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
+?/. - c.107G>T r.(?) p.(Gly36Val) Unknown - likely pathogenic g.31824286C>A g.31802738C>A c.107G>T, p.(Gly36Val) - PAX6_000820 different transcript: NM_001604.5(PAX6):c.107G>T, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes AN 14402 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.107_114dup r.(?) p.(Pro39Glyfs*18) Unknown - likely pathogenic g.31824280_31824287dup g.31802732_31802739dup PAX6 c.107_114dup p.(Pro39Glyfs * 18) - PAX6_000825 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 46 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+/. - c.110del r.(?) p.(Arg38GlyfsTer16) Unknown - pathogenic (dominant) g.31824283del g.31802735del NM_001368894.2:c.112delG - PAX6_000728 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25755 PubMed: Jackson 2020 - - - - Asia;white - - - - 1 Johan den Dunnen
+/. - c.110del r.(?) p.(Arg38Glyfs*16) Paternal (inferred) - pathogenic (dominant) g.31824283del g.31802735del NM_001310158.1:c.112del (Arg38Glyfs30) - PAX6_000728 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam90Pat249 PubMed: Liu 2023 3-generation family, 7 affected (5F, 2M) M - China - - - - - 7 Johan den Dunnen
-?/. - c.111C>G r.(?) p.(=) Unknown - likely benign g.31824282G>C - PAX6(NM_000280.4):c.111C>G (p.(=)) - PAX6_000898 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.112C>G r.(?) p.(Arg38Gly) Paternal (confirmed) - pathogenic (dominant) g.31824281G>C g.31802733G>C - - PAX6_000786 somatic mosaicism in father PubMed: Lima Cunha 2020 - - Germline yes - - - - DNA SEQ - - ? Fam2Pat2-3/4/5 PubMed: Lima Cunha 2020 2-generation family, 3 affected sibs (2F, M), unaffected parents F;M no Somalia - - - - - 1 Johan den Dunnen
+/. - c.112C>G r.(?) p.(Arg38Gly) Maternal (confirmed) ACMG pathogenic (dominant) g.31824281G>C g.31802733G>C NM_001258462.1:c.112C>G (Arg38Gly) - PAX6_000786 ACMG PS4, PM1, PM2, PP3, PP4 PubMed: Marinakis 2021 - rs397514640 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 8048 PubMed: Marinakis 2021 2-generation family, patient and similarly affected mother F - Greece - - - - - 2 Jan Traeger-Synodinos
+/. 6 c.112del r.(?) p.(Arg38Glyfs*16) Unknown - pathogenic g.31824283del g.31802735del 112delC - PAX6_000728 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - F - - - - - - - 3 Marta de Castro-Miró
+/. - c.112del r.(?) p.(Arg38Glyfs*16) Unknown - pathogenic g.31824283del g.31802735del c.112del, p.(Arg38Glyfs*30) - PAX6_000728 different transcript: NM_001604.5(PAX6):c.112del, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes AN 1312 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.112_116del r.(?) p.(Arg38Valfs*16) Unknown - pathogenic g.31824281_31824285del - - - PAX6_000839 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.113G>A r.(?) p.(Arg38Gln) Unknown ACMG likely pathogenic (dominant) g.31824280C>T - - - PAX6_000799 ACMG: PM1, PM5, PP2_SUP, PP3; ExAC gene missense constraint >3,0, p.Arg38Gly,Pro,Trp regarded pathogenic - - - Germline ? - - - - DNA SEQ-NG-I - - AN1 178813 - - M ? Germany - - - - - 1 Andreas Laner
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.31824280C>T g.31802732C>T - - PAX6_000799 mother germline mosiac PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam12PatII1/2 PubMed: Li 2018 2-generation family, 1 affected brothers, unaffected mother (germline mosiac) M - China - - - - - 2 Johan den Dunnen
+?/. - c.113G>C r.(?) p.(Arg38Pro) Parent #1 - likely pathogenic g.31824280C>G g.31802732C>G - - PAX6_000796 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat20 PubMed: Rim 2017 - F - Korea - - - - - 1 LOVD
+?/. - c.113G>C r.(?) p.(Arg38Pro) Unknown ACMG VUS g.31824280C>G - - - PAX6_000796 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_SH_0028 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.113G>C r.(?) p.(Arg38Pro) Unknown ACMG VUS g.31824280C>G - - - PAX6_000796 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ? 5184448 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.113G>C r.(?) p.(Arg38Pro) Maternal (confirmed) - VUS g.31824280C>G g.31802732C>G - - PAX6_000796 variant in affected mother from consanguineous family PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam11 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.113G>C r.(?) p.(Arg38Pro) Maternal (confirmed) - pathogenic (dominant) g.31824280C>G g.31802732C>G NM_001310158.1:c.113G>C (Arg38Pro) - PAX6_000796 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam75Pat207 PubMed: Liu 2023 3-generation family, 4 affected (3F, M) M - China - - - - - 3 Johan den Dunnen
+/. - c.113G>C r.(?) p.(Arg38Pro) Maternal (inferred) - pathogenic (dominant) g.31824280C>G g.31802732C>G NM_001310158.1:c.113G>C (Arg38Pro) - PAX6_000796 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam75Pat209 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
+?/. - c.120C>A r.(?) p.(Cys40*) Unknown - likely pathogenic g.31824273G>T g.31802725G>T c.120C>A, p.(Cys40*) - PAX6_000803 different transcript: NM_001604.5(PAX6):c.112del, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes AN 12412 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.120C>A r.(?) p.(Cys40*) Unknown - likely pathogenic g.31824273G>T g.31802725G>T PAX6(NM_001258462.1):c.120C>A(p.C40*) - PAX6_000803 different transcript: NM_001258462.1(PAX6):c.120C>A, p.(C40*) PubMed: Sun 2018 - - Germline/De novo (untested) ? 112 - - - DNA SEQ-NG-I blood - ? WHP12 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
-?/. - c.130C>A r.(?) p.(=) Unknown - likely benign g.31824263G>T g.31802715G>T PAX6(NM_000280.4):c.130C>A (p.(Arg44=)), PAX6(NM_001310158.1):c.130C>A (p.R44=), PAX6(NM_001368910.2):c.373C>A (p.R125=) - PAX6_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130C>A r.(?) p.(=) Unknown - benign g.31824263G>T g.31802715G>T PAX6(NM_000280.4):c.130C>A (p.(Arg44=)), PAX6(NM_001310158.1):c.130C>A (p.R44=), PAX6(NM_001368910.2):c.373C>A (p.R125=) - PAX6_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130C>A r.(?) p.(=) Unknown - likely benign g.31824263G>T - PAX6(NM_000280.4):c.130C>A (p.(Arg44=)), PAX6(NM_001310158.1):c.130C>A (p.R44=), PAX6(NM_001368910.2):c.373C>A (p.R125=) - PAX6_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.131G>C r.(?) p.(Arg44Pro) Maternal (confirmed) - pathogenic (dominant) g.31824262C>G g.31802714C>G - - PAX6_000860 grandmother likely germline mosaic PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel MCOP FamMA_2 PubMed: Riera 2017 4-generation family, 4 affected (3F, M); grandmother likely germline mosaic F;M - Spain - - - - - 4 Johan den Dunnen
-?/. - c.141+11C>G r.(=) p.(=) Unknown - likely benign g.31824241G>C - PAX6(NM_000280.4):c.141+11C>G (p.(=)) - PAX6_000838 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141+55G>A r.(=) p.(=) Unknown - likely benign g.31824197C>T - PAX6(NM_001368918.2):c.196G>A (p.(Ala66Thr)) - PAX6_000875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5i_7i c.142-394_402del r.? p.? Unknown - likely pathogenic (dominant) g.31822360_31823718del g.31800812_31802170del g.31800812_31802170del - PAX6_000888 del ex6-7 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS AN RPID1524 PubMed: Hall 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.142-131T>A r.(=) p.(=) Unknown - VUS g.31823455A>T - PAX6(NM_001258462.1):c.147T>A (p.(His49Gln)) - PAX6_000837 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142-99A>G r.(=) p.(=) Unknown - likely benign g.31823423T>C - PAX6(NM_001310158.1):c.179A>G (p.Q60R) - PAX6_000780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142-95C>T r.(=) p.(=) Unknown - likely benign g.31823419G>A - PAX6(NM_001310158.1):c.183C>T (p.N61=) - PAX6_000836 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142-94G>A r.(=) p.(=) Unknown - VUS g.31823418C>T - PAX6(NM_001604.5):c.183+1G>A - PAX6_000845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142-91A>G r.(=) p.(=) Unknown - VUS g.31823415T>C - PAX6(NM_001604.5):c.183+4A>G (p.?) - PAX6_000844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.142-89C>T r.(=) p.(=) Parent #1 - VUS g.31823413G>A g.31801865G>A - - PAX6_000702 suspected PAX6-Mutation - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.142-83A>G r.(=) p.(=) Unknown - benign g.31823407T>C - PAX6(NM_000280.3):c.142-83A>G - PAX6_000874 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151G>A r.(?) p.(Gly51Arg) Unknown - pathogenic g.31823315C>T g.31801767C>T - - PAX6_000719 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.154T>C r.(?) p.(Cys52Arg) Unknown ACMG pathogenic g.31823312A>G g.31801764A>G - - PAX6_000703 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - AN - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.154T>C r.(?) p.(Cys52Arg) Parent #1 - likely pathogenic g.31823312A>G g.31801764A>G NM_001258462.1:c.196T>C - PAX6_000703 - PubMed: Ehrenberg 2021 - - Germline - - - - - DNA SEQ - - ? Pat24 PubMed: Ehrenberg 2021 - F - Greece;Syria;Iran Jewish - - - - 1 Johan den Dunnen
+?/. - c.157G>A r.(?) p.(Val53Met) Unknown - likely pathogenic g.31823309C>T - - - PAX6_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.163A>T r.(?) p.(Lys55*) Parent #1 - pathogenic g.31823303T>A g.31801755T>A - - PAX6_000701 - - - - Germline - - - - - DNA SEQ - - AN - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.177G>T r.(?) p.(Arg59Ser) Unknown - likely pathogenic (dominant) g.31823289C>A g.31801741C>A NM_001258462.2:c.219G>T - PAX6_000847 - PubMed: Fernandez-Alcalde 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam23 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.183C>G r.(?) p.(Tyr61*) Unknown - pathogenic g.31823283G>C - - - PAX6_000873 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>C r.(?) p.(Gly64Ala) Unknown - VUS g.31823275C>G - - - PAX6_000813 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>T r.(?) p.(Gly64Val) Unknown - VUS g.31823275C>A - PAX6(NM_001310158.1):c.233G>T (p.G78V) - PAX6_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.197T>A r.(?) p.(Ile66Asn) Unknown - likely pathogenic (dominant) g.31823269A>T g.31801721A>T NM_001604.5:c.239T>A - PAX6_000863 - PubMed: Ma 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam18PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents M - Australia - - - - - 1 Johan den Dunnen
-?/. - c.201A>G r.(?) p.(=) Unknown - likely benign g.31823265T>C g.31801717T>C PAX6(NM_001604.5):c.243A>G (p.R81=) - PAX6_000768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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