Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1329285216
rs1329285216
RBP4 ; FFAR4
T 0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648

2017
dbSNP: rs1554985722
rs1554985722
PAX6
G 0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648

2017
dbSNP: rs755799430
rs755799430
VSX2
A 0.700 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs869025268
rs869025268
VSX2
CG 0.700 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1243762658
rs1243762658
TENM3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1475762618
rs1475762618
WNT7B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554110735
rs1554110735
TFAP2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569119395
rs1569119395
WNT7B
A 0.700 CausalMutation CLINVAR

dbSNP: rs370866589
rs370866589
SMOC1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs374823079
rs374823079
MFRP ; C1QTNF5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs377669670
rs377669670
FOXE3 ; LINC01389
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
A 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
T 0.700 CausalMutation CLINVAR

dbSNP: rs755000701
rs755000701
TENM3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs755377651
rs755377651
FOXE3 ; LINC01389
T 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs869025221
rs869025221
RARB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025222
rs869025222
RARB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs875989805
rs875989805
NHS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434618
rs121434618
BCOR
0.030 GeneticVariation BEFREE The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu). 29974297

2019
dbSNP: rs121434618
rs121434618
BCOR
0.030 GeneticVariation BEFREE In contrast to the previously published families, our findings demonstrate a large variability of BCOR-associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males. 30450806

2018
dbSNP: rs121434618
rs121434618
BCOR
0.030 GeneticVariation BEFREE We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. 19367324

2009