All variants in the PAX6 gene

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     

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     

Owner     
+?/. - - r.? p.? - 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) - - - - - Johan den Dunnen
+?/. - - r.? p.? - 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) - - - - - Johan den Dunnen
+?/. - - r.? p.? - 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) - - - - - Johan den Dunnen
+?/. 13_ c.*180_*5142{0} r.? p.? - 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) - - - - - Johan den Dunnen
+?/. _1_13_ c.-533_*5142inv{1} r.0? p.0? - 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) - - - - - Johan den Dunnen
+?/. _1_13_ c.-533_*5142{0} r.0 p.0 - 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) - - - - - Johan den Dunnen
+?/. 11i_13_ c.1032+734_*5142{1} r.? p.? - 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) - - - - - Johan den Dunnen
+?/. 4i_13_ c.11-907_*5142{0} r.? p.? - likely pathogenic (dominant) g.31784515_31825289del g.31762967_31803741del g.31762967_31803741del - PAX6_000883 deletion incl. ELP4 and PAX6 PubMed: Hall 2024 - - Germline yes - - - - Johan den Dunnen
+?/. 8i_13_ c.524-1228_*12912del r.? p.? - 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) - - - - - Johan den Dunnen
+?/. _1_4i c.-533_10+902inv{1} r.0? p.0? - 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 - - - - - Johan den Dunnen
-?/. - c.-134A>T r.(?) p.(=) - likely benign g.31832381T>A - - - PAX6_000814 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-133_-132del r.? p.? ACMG VUS g.31832379_31832380del g.31810831_31810832del -133_-132delTA - PAX6_000805 - - - - Germline/De novo (untested) - - - - - Jinu Han
-?/. - c.-129+9G>A r.(=) p.(=) - 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 - - - Mohammed Faruq
-?/. - c.-129+9G>A r.(=) p.(=) - 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 - - - Mohammed Faruq
-/. - c.-129+9G>A r.(=) p.(=) - benign g.31832367C>T - PAX6(NM_001368905.2):c.-910+9G>A - PAX6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-129+9G>A r.(=) p.(=) - likely benign g.31832367C>T - PAX6(NM_001368905.2):c.-910+9G>A - PAX6_000772 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-128-358_-128-357insAC r.(=) p.(=) - likely benign g.31828831_31828832insTG - PAX6(NM_001368891.2):c.-129+7_-129+8insAC - PAX6_000876 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-128-7G>T r.(=) p.(=) - likely benign g.31828480C>A - - - PAX6_000858 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-128-2del r.spl? p.? - pathogenic g.31828475del - - - PAX6_000857 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2i c.-128-2del r.spl p.? - 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) - - - - - Johan den Dunnen
+/. 2i c.-128-2del r.spl p.? - pathogenic (dominant) g.31828475del g.31806927del IVS2-2del - PAX6_000857 ACMG PM2, PS4 mod, PP3, PS2, PP4 mod PubMed: Hall 2024 - - De novo - - - - - Johan den Dunnen
+/. - c.-52+1G>A r.spl? p.? - pathogenic g.31828396C>T - - - PAX6_000784 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 3i c.-52+1G>C r.spl p.? - 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) - - - - - Johan den Dunnen
+?/. 3i c.-52+1G>T r.spl p.? - 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) - - - - - Johan den Dunnen
+?/. - - r.? p.? - 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) - - - - - Johan den Dunnen
+?/. 6i_13_ c.524-2206_*5142{0} r.? p.? - 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) - - - - - Johan den Dunnen
+/. - c.? r.? p.? - likely pathogenic g.? - NM_001368900.1:c.142-3T>C - PAX6_000703 - PubMed: Ehrenberg 2021 - - Germline - - - - - Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) - pathogenic g.31827958A>C g.31806410A>C PAX6 c.2T>G, - - PAX6_000827 heterozygous PubMed: Bell 2021 - - De novo yes - - - - LOVD
+/. - c.10+1G>C r.spl p.? ACMG pathogenic g.31827949C>G - - - PAX6_000783 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+?/. - c.10+5G>C r.spl? p.? ACMG VUS g.31827945C>G - - - PAX6_000801 - - - - Germline/De novo (untested) - - - - - Jinu Han
-?/. - c.10+8C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. - c.11-2A>G r.spl p.(?) - likely pathogenic g.31824384T>C g.31802836T>C c.11-2A>G, p.(?) - PAX6_000821 - PubMed: Wang 2019 - - Germline ? - - - - LOVD
+/. - c.(10+1_11-1)_(*1_?)del r.? p.? - 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 - - - - - LOVD
-/. - c.13C>G r.(?) p.(His5Asp) - benign g.31824380G>C g.31802832G>C - - PAX6_000900 - PubMed: Plachy 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 5 c.19G>T r.(?) p.(Gly7*) - pathogenic g.31824374C>A g.31802826C>A - - PAX6_000704 - PubMed: Han 2018 - - De novo - - - - - Joonhong Park
?/. - c.26A>T r.(?) p.(Asn9Ile) - VUS g.31824367T>A - PAX6(NM_000280.3):c.26A>T (p.N9I) - PAX6_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 5 c.33del r.(?) p.(Gly12Valfs*19) - pathogenic g.31824360del g.31802812del - - PAX6_000100 - - - - Germline - - - - - Andreas Laner
+/+ 5 c.52G>A r.(?) p.(Gly18Arg) - pathogenic g.31824341C>T g.31802793C>T - - PAX6_000308 - - - - Germline - - - - - Andreas Laner
+/. - c.52G>A r.(?) p.(Gly18Arg) - pathogenic g.31824341C>T - - - PAX6_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.52G>A r.(?) p.(Gly18Arg) - likely pathogenic (dominant) g.31824341C>T g.31802793C>T - - PAX6_000308 - PubMed: Fan 2020 - - Germline yes - - - - Johan den Dunnen
+/. - c.52G>A r.(?) p.(Gly18Arg) - pathogenic (dominant) g.31824341C>T g.31802793C>T - - PAX6_000308 - PubMed: Reichsteiner 2021 - - De novo - - - - - Johan den Dunnen
+?/. - c.52G>A r.(?) p.(Gly18Arg) - likely pathogenic (dominant) g.31824341C>T g.31802793C>T NM_001310158.1:c.52G>A (Gly18Arg) - PAX6_000308 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.52G>A r.(?) p.(Gly18Arg) - likely pathogenic (dominant) g.31824341C>T g.31802793C>T NM_001310158.1:c.52G>A (Gly18Arg) - PAX6_000308 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
?/. - c.52G>C r.(?) p.(Gly18Arg) - 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 - - - - - VKGL-NL_Rotterdam
+?/. - c.55C>T r.(?) p.(Arg19Trp) 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 - - - - - Andreas Laner
?/. - c.62T>C r.(?) p.(Leu21Pro) - VUS g.31824331A>G - PAX6(NM_001310158.1):c.62T>C (p.L21P) - PAX6_000840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.72C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.76C>T r.(?) p.(Arg26Trp) - pathogenic (dominant) g.31824317G>A g.31802769G>A - - PAX6_000864 - PubMed: Patel 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.77G>A r.(?) p.(Arg26Gln) - pathogenic (dominant) g.31824316C>T g.31802768C>T - - PAX6_000854 - PubMed: Fernandez-Alcalde 2021 - - De novo - - - - - Johan den Dunnen
+/. - c.80del r.(?) p.(Gln27Argfs*4) - pathogenic g.31824313del - - - PAX6_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.88del r.(?) p.(Val30*) - likely pathogenic (dominant) g.31824305del g.31802757del NM_001310158.1:c.88del (Val30*fs*1) - PAX6_000869 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.88del r.(?) p.(Val30*) - likely pathogenic (dominant) g.31824305del g.31802757del NM_001310158.1:c.88del (Val30*fs*1) - PAX6_000869 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
-?/. - c.90A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
+/. - c.106del r.(?) p.(Ala37Profs*17) - pathogenic (dominant) g.31824287del g.31802739del NM_001310158.1:c.109del (Ala37Profs31) - PAX6_000868 - PubMed: Liu 2023 rs1057517780 rs1057517780 Germline yes - - - - Johan den Dunnen
+/. - c.106del r.(?) p.(Ala37Profs*17) - pathogenic (dominant) g.31824287del g.31802739del NM_001310158.1:c.109del (Ala37Profs31) - PAX6_000868 - PubMed: Liu 2023 rs1057517780 rs1057517780 Germline yes - - - - Johan den Dunnen
+?/. - c.107G>T r.(?) p.(Gly36Val) - 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 ? - - - - LOVD
+?/. - c.107_114dup r.(?) p.(Pro39Glyfs*18) - likely pathogenic g.31824280_31824287dup g.31802732_31802739dup PAX6 c.107_114dup p.(Pro39Glyfs * 18) - PAX6_000825 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
+/. - c.110del r.(?) p.(Arg38GlyfsTer16) - pathogenic (dominant) g.31824283del g.31802735del NM_001368894.2:c.112delG - PAX6_000728 - PubMed: Jackson 2020 - - Germline - - - - - Johan den Dunnen
+/. - c.110del r.(?) p.(Arg38Glyfs*16) - pathogenic (dominant) g.31824283del g.31802735del NM_001310158.1:c.112del (Arg38Glyfs30) - PAX6_000728 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
-?/. - c.111C>G r.(?) p.(=) - likely benign g.31824282G>C - PAX6(NM_000280.4):c.111C>G (p.(=)) - PAX6_000898 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.112C>G r.(?) p.(Arg38Gly) - pathogenic (dominant) g.31824281G>C g.31802733G>C - - PAX6_000786 somatic mosaicism in father PubMed: Lima Cunha 2020 - - Germline yes - - - - Johan den Dunnen
+/. - c.112C>G r.(?) p.(Arg38Gly) 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 - - - - - Jan Traeger-Synodinos
+/. 6 c.112del r.(?) p.(Arg38Glyfs*16) - pathogenic g.31824283del g.31802735del 112delC - PAX6_000728 - - - - Germline - - - - - Marta de Castro-Miró
+/. - c.112del r.(?) p.(Arg38Glyfs*16) - 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 ? - - - - LOVD
+/. - c.112_116del r.(?) p.(Arg38Valfs*16) - pathogenic g.31824281_31824285del - - - PAX6_000839 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.113G>A r.(?) p.(Arg38Gln) 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 ? - - - - Andreas Laner
+/. - c.113G>A r.(?) p.(Arg38Gln) - pathogenic (dominant) g.31824280C>T g.31802732C>T - - PAX6_000799 mother germline mosiac PubMed: Li 2018 - - Germline - - - - - Johan den Dunnen
+?/. - c.113G>C r.(?) p.(Arg38Pro) - likely pathogenic g.31824280C>G g.31802732C>G - - PAX6_000796 - PubMed: Rim 2017 - - Germline - - - - - LOVD
+?/. - c.113G>C r.(?) p.(Arg38Pro) ACMG VUS g.31824280C>G - - - PAX6_000796 - - - - Germline/De novo (untested) - - - - - Jinu Han
+?/. - c.113G>C r.(?) p.(Arg38Pro) ACMG VUS g.31824280C>G - - - PAX6_000796 - - - - Germline/De novo (untested) - - - - - Jinu Han
?/. - c.113G>C r.(?) p.(Arg38Pro) - VUS g.31824280C>G g.31802732C>G - - PAX6_000796 variant in affected mother from consanguineous family PubMed: Fan 2020 - - Germline yes - - - - Johan den Dunnen
+/. - c.113G>C r.(?) p.(Arg38Pro) - pathogenic (dominant) g.31824280C>G g.31802732C>G NM_001310158.1:c.113G>C (Arg38Pro) - PAX6_000796 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
+/. - c.113G>C r.(?) p.(Arg38Pro) - pathogenic (dominant) g.31824280C>G g.31802732C>G NM_001310158.1:c.113G>C (Arg38Pro) - PAX6_000796 - PubMed: Liu 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.120C>A r.(?) p.(Cys40*) - 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 - - - - LOVD
+?/. - c.120C>A r.(?) p.(Cys40*) - 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 - - - LOVD
-?/. - c.130C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.130C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.130C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
+/. - c.131G>C r.(?) p.(Arg44Pro) - pathogenic (dominant) g.31824262C>G g.31802714C>G - - PAX6_000860 grandmother likely germline mosaic PubMed: Riera 2017 - - Germline yes - - - - Johan den Dunnen
-?/. - c.141+11C>G r.(=) p.(=) - likely benign g.31824241G>C - PAX6(NM_000280.4):c.141+11C>G (p.(=)) - PAX6_000838 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.141+55G>A r.(=) p.(=) - likely benign g.31824197C>T - PAX6(NM_001368918.2):c.196G>A (p.(Ala66Thr)) - PAX6_000875 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 5i_7i c.142-394_402del r.? p.? - likely pathogenic (dominant) g.31822360_31823718del g.31800812_31802170del g.31800812_31802170del - PAX6_000888 del ex6-7 PubMed: Hall 2024 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.142-131T>A r.(=) p.(=) - VUS g.31823455A>T - PAX6(NM_001258462.1):c.147T>A (p.(His49Gln)) - PAX6_000837 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.142-99A>G r.(=) p.(=) - likely benign g.31823423T>C - PAX6(NM_001310158.1):c.179A>G (p.Q60R) - PAX6_000780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.142-95C>T r.(=) p.(=) - likely benign g.31823419G>A - PAX6(NM_001310158.1):c.183C>T (p.N61=) - PAX6_000836 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.142-94G>A r.(=) p.(=) - VUS g.31823418C>T - PAX6(NM_001604.5):c.183+1G>A - PAX6_000845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.142-91A>G r.(=) p.(=) - VUS g.31823415T>C - PAX6(NM_001604.5):c.183+4A>G (p.?) - PAX6_000844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 5i c.142-89C>T r.(=) p.(=) - VUS g.31823413G>A g.31801865G>A - - PAX6_000702 suspected PAX6-Mutation - - - Germline - - - - - Andreas Laner
-/. - c.142-83A>G r.(=) p.(=) - benign g.31823407T>C - PAX6(NM_000280.3):c.142-83A>G - PAX6_000874 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.151G>A r.(?) p.(Gly51Arg) - pathogenic g.31823315C>T g.31801767C>T - - PAX6_000719 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.154T>C r.(?) p.(Cys52Arg) ACMG pathogenic g.31823312A>G g.31801764A>G - - PAX6_000703 - PubMed: Trujillano 2017 - - De novo - - - - - Daniel Trujillano
+/. - c.154T>C r.(?) p.(Cys52Arg) - likely pathogenic g.31823312A>G g.31801764A>G NM_001258462.1:c.196T>C - PAX6_000703 - PubMed: Ehrenberg 2021 - - Germline - - - - - Johan den Dunnen
+?/. - c.157G>A r.(?) p.(Val53Met) - likely pathogenic g.31823309C>T - - - PAX6_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 c.163A>T r.(?) p.(Lys55*) - pathogenic g.31823303T>A g.31801755T>A - - PAX6_000701 - - - - Germline - - - - - Andreas Laner
+?/. - c.177G>T r.(?) p.(Arg59Ser) - 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) - - - - - Johan den Dunnen
+/. - c.183C>G r.(?) p.(Tyr61*) - pathogenic g.31823283G>C - - - PAX6_000873 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.191G>C r.(?) p.(Gly64Ala) - VUS g.31823275C>G - - - PAX6_000813 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.191G>T r.(?) p.(Gly64Val) - VUS g.31823275C>A - PAX6(NM_001310158.1):c.233G>T (p.G78V) - PAX6_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.197T>A r.(?) p.(Ile66Asn) - likely pathogenic (dominant) g.31823269A>T g.31801721A>T NM_001604.5:c.239T>A - PAX6_000863 - PubMed: Ma 2016 - - De novo - - - - - Johan den Dunnen
-?/. - c.201A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
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