MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:9060
Name:O'Donnell Pappas syndrome
Definition:
Alternative IDs:OMIM:136520
ParentIDs:MESH:D002386|MESH:D003317|MESH:D020417
TreeNumbers:C10.292.562.675.300/C537858 |C11.204.236/C537858 |C11.270.162/C537858 |C11.510.245/C537858 |C11.590.400.300/C537858 |C16.320.290.162/C537858 |C16.614.643/C537858
Synonyms:FOVEAL HYPOPLASIA 1 |FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT |Foveal Hypoplasia and Presenile Cataract Syndrome |Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts |Foveal hypoplasia, prese
Slim Mappings:Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease
Reference: MedGen: C537858
MeSH: C537858
OMIM: 136520;
MSeqDR LSDB:  
Genes: PAX6;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0006934Congenital nystagmus
3 HP:0007750Hypoplasia of the fovea
4 HP:0007819Presenile cataracts
5 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001368894.2(PAX6):c.*356T>A-1ELP4;PAX6Conflicting interpretations of pathogenicity774392481RCV000283296|RCV000282065|RCV000313631|RCV000334653|RCV000340604|RCV000397731|RCV000399607|RCV003311743; NHuman Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330,Orpha11318111263181112611:g.31811126A>TClinGen:CA10634600CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*1302T>C5080PAX6Benign/Likely benign146579778RCV000271935|RCV000262804|RCV000296937|RCV000268453|RCV000321208|RCV000354188|RCV000378162; NMedGen:CN239197|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orph113180637431806374NC_000011.9:g.31806374T>CClinGen:CA10634537CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*1404G>C5080PAX6Uncertain significance748381549RCV001106821|RCV001107470|RCV001107472|RCV001107471; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C066399511318064763180647611:g.31806476G>C-
NM_019040.5(ELP4):c.*1615A>C5080PAX6Uncertain significance1171230486RCV001107474|RCV001107475|RCV001107476|RCV001107473; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C066399511318066873180668711:g.31806687A>C-
NM_019040.5(ELP4):c.*1626G>A5080PAX6Uncertain significance1269133831RCV001103844|RCV001103846|RCV001103845|RCV001107477; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C066399511318066983180669811:g.31806698G>A-
NM_019040.5(ELP4):c.*1714C>G5080PAX6Conflicting interpretations of pathogenicity180780893RCV000264095|RCV000301374|RCV000304821|RCV000335218|RCV000361151|RCV000391974|RCV000402987; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MOND113180678631806786NC_000011.9:g.31806786C>GClinGen:CA10634545CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*1811A>C5080PAX6Benign/Likely benign185968715RCV000293624|RCV000278465|RCV000335986|RCV000336938|RCV000375402|RCV000385650|RCV000391063; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019113180688331806883NC_000011.9:g.31806883A>CClinGen:CA10634547CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*1877A>G5080PAX6Uncertain significance745626044RCV000283304|RCV000310183|RCV000313520|RCV000340700|RCV000362512|RCV000391067|RCV000405656; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orph113180694931806949NC_000011.9:g.31806949A>GClinGen:CA10638268CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2040G>C5080PAX6Benign/Likely benign183115097RCV000263019|RCV000273553|RCV000315616|RCV000330932|RCV000355481|RCV000372621|RCV000370578; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MedGen:CN239197|MedGen:C0663995|MONDO:MONDO:0020147,MedGe113180711231807112NC_000011.9:g.31807112G>CClinGen:CA10638893CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2041C>G5080PAX6Uncertain significance544117348RCV001103953|RCV001103955|RCV001103952|RCV001103954; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318071133180711311:g.31807113C>G-
NM_019040.5(ELP4):c.*2114C>G5080PAX6Benign16922475RCV000300259|RCV000315571|RCV000345765|RCV000357434|RCV000367340|RCV000407248|RCV000405069; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedG113180718631807186NC_000011.9:g.31807186C>GClinGen:CA10638895CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2282G>A5080PAX6Uncertain significance886048182RCV000260177|RCV000291188|RCV000268405|RCV000321612|RCV000317778|RCV000360692|RCV000383156; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:1113180735431807354NC_000011.9:g.31807354G>AClinGen:CA10638283CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2334T>G5080PAX6Uncertain significance886048183RCV000293699|RCV000294730|RCV000325152|RCV000337027|RCV000351915|RCV000385439|RCV000381848; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330,Orpha113180740631807406NC_000011.9:g.31807406T>GClinGen:CA10630725CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2387C>T5080PAX6Uncertain significance990066045RCV001107012|RCV001107672|RCV001107670|RCV001107671; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318074593180745911:g.31807459C>T-
NM_019040.5(ELP4):c.*2407C>A5080PAX6Uncertain significance886048184RCV000297220|RCV000266868|RCV000305589|RCV000335913|RCV000358057|RCV000403445|RCV000407623; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orph11318074793180747911:g.31807479C>AClinGen:CA10630727CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2452C>T5080PAX6Benign3026401RCV000272675|RCV000273772|RCV000327646|RCV000307913|RCV000333466|RCV000362607|RCV000386873|RCV001683227; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MedG11318075243180752411:g.31807524C>TClinGen:CA10634557CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2522G>T5080PAX6Uncertain significance1948594512RCV001104348|RCV001104349|RCV001104347|RCV001107099; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318075943180759411:g.31807594G>T-
NM_019040.5(ELP4):c.*2664G>A5080PAX6Conflicting interpretations of pathogenicity567720234RCV000263779|RCV000276294|RCV000317915|RCV000319012|RCV000371323|RCV000372529|RCV000378193; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:2509211318077363180773611:g.31807736G>AClinGen:CA10638285CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2673_*2674del5080PAX6Benign141022497RCV000283615|RCV000288752|RCV000289781|RCV000324796|RCV000343770|RCV000379301|RCV000391691|RCV001539679; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|Human Phenotype Ontology:HP:0000528,Human Phenotype Ontology:HP:0001485,Human Phenotype Ontology:HP:0007664,MedGe11318077453180774611:g.31807745_31807746delClinGen:CA10634561CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2710CA[2]5080PAX6Uncertain significance886048186RCV000297149|RCV000314581|RCV000356776|RCV000349666|RCV000369302|RCV000391676|RCV000406035; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:001111318077813180778211:g.31807781_31807782delClinGen:CA10638896CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2716T>C5080PAX6Uncertain significance549835579RCV001104130|RCV001104131|RCV001107769|RCV001107770; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318077883180778811:g.31807788T>C-
NM_019040.5(ELP4):c.*2845T>C5080PAX6Uncertain significance1006923180RCV001104437|RCV001104435|RCV001104436|RCV001104438; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318079173180791711:g.31807917T>C-
NM_019040.5(ELP4):c.*2982G>A5080PAX6Conflicting interpretations of pathogenicity191399467RCV001104439|RCV001107188|RCV001104440|RCV001104441|RCV001104442|RCV001107187; NMedGen:C0663995|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Or11318080543180805411:g.31808054G>A-
NM_019040.5(ELP4):c.*2992G>A5080PAX6Uncertain significance1948639449RCV001107190|RCV001107191|RCV001107192|RCV001107189; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318080643180806411:g.31808064G>A-
NM_019040.5(ELP4):c.*3164_*3165insAAAA5080PAX6Benign34919147RCV000270087|RCV000299243|RCV000305344|RCV000358681|RCV000359957|RCV000392032|RCV000392047|RCV001538955; NHuman Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,Me11318082353180823611:g.31808235_31808236insAAAAClinGen:CA10634562CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3207T>C5080PAX6Uncertain significance1010978990RCV001107838|RCV001107840|RCV001107837|RCV001107839; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318082793180827911:g.31808279T>C-
NM_019040.5(ELP4):c.*3208C>T5080PAX6Benign608293RCV000271960|RCV000277532|RCV000325808|RCV000331769|RCV000332589|RCV000366442|RCV000386337|RCV001527735; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:22511318082803180828011:g.31808280C>TClinGen:CA10638899CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3242G>A5080PAX6Conflicting interpretations of pathogenicity187705792RCV000279154|RCV000285025|RCV000338913|RCV000339849|RCV000374742|RCV000373184|RCV000392251|RCV002262957; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C02061113180831431808314NC_000011.9:g.31808314G>AClinGen:CA10638286CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3303G>A5080PAX6Uncertain significance994285025RCV001107281|RCV001107282|RCV001107283|RCV001107284; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318083753180837511:g.31808375G>A-
NM_019040.5(ELP4):c.*3383C>T5080PAX6Conflicting interpretations of pathogenicity541022955RCV000273407|RCV000304870|RCV000308649|RCV000314634|RCV000345738|RCV000367972|RCV000392243; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen113180845531808455NC_000011.9:g.31808455C>TClinGen:CA10638288CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3425C>T5080PAX6Benign/Likely benign3026399RCV000260635|RCV000261905|RCV000315850|RCV000321786|RCV000369362|RCV000375220|RCV000376471|RCV001843508; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520113180849731808497NC_000011.9:g.31808497C>TClinGen:CA10638289CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3433G>T5080PAX6Likely benign192709453RCV000289228|RCV000285847|RCV000311467|RCV000343063|RCV000346404|RCV000381317|RCV000399807; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orph113180850531808505NC_000011.9:g.31808505G>TClinGen:CA10638291CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3504T>C5080PAX6Uncertain significance886048187RCV000260837|RCV000314745|RCV000299309|RCV000349922|RCV000353270|RCV000356446|RCV000393908; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:1113180857631808576NC_000011.9:g.31808576T>CClinGen:CA10638900CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3509A>G5080PAX6Benign/Likely benign542906080RCV000267644|RCV000291853|RCV000263956|RCV000321448|RCV000325181|RCV000360034|RCV000382078|RCV001612959; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|M113180858131808581NC_000011.9:g.31808581A>GClinGen:CA10630731CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3514_*3517dup5080PAX6Benign397795797RCV000279797|RCV000295258|RCV000330541|RCV000337230|RCV000352420|RCV000387389|RCV000401427|RCV001672446; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,M113180858531808586NC_000011.9:g.31808586_31808589dupClinGen:CA10638901CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3523del5080PAX6Uncertain significance886048188RCV000270919|RCV000302597|RCV000305976|RCV000363009|RCV000359771|RCV000407418|RCV000407420; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011113180859531808595NC_000011.9:g.31808595delClinGen:CA10638902CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3588A>G5080PAX6Uncertain significance906435505RCV001107372|RCV001108027|RCV001107371|RCV001107373; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318086603180866011:g.31808660A>G-
NM_019040.5(ELP4):c.*3703_*3705del5080PAX6Uncertain significance886048189RCV000284700|RCV000280659|RCV000338068|RCV000341992|RCV000372839|RCV000401024|RCV000402077; NHuman Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype O113180877531808777NC_000011.9:g.31808775_31808777delClinGen:CA10630732CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3703G>A5080PAX6Benign3026398RCV000276213|RCV000306938|RCV000311393|RCV000314986|RCV000363855|RCV000368371|RCV000392121|RCV001636871; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330,113180877531808775NC_000011.9:g.31808775G>AClinGen:CA10638904CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3706T>A5080PAX6Uncertain significance1948715280RCV001102804|RCV001102805|RCV001102806|RCV001108028; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318087783180877811:g.31808778T>A-
NM_019040.5(ELP4):c.*3713A>T5080PAX6Benign/Likely benign138881442RCV000260907|RCV000264021|RCV000321546|RCV000318395|RCV000353194|RCV000378379|RCV000375323; NMedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,113180878531808785NC_000011.9:g.31808785A>TClinGen:CA10638293CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3715T>A5080PAX6Uncertain significance558836571RCV001104730|RCV001104732|RCV001104733|RCV001104731; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C066399511318087873180878711:g.31808787T>A-
NM_019040.5(ELP4):c.*3772G>C5080PAX6Uncertain significance865924000RCV001104734|RCV001104735|RCV001105874|RCV001105873; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318088443180884411:g.31808844G>C-
NM_019040.5(ELP4):c.*3851C>T5080PAX6Benign141344418RCV001105876|RCV001105875|RCV001105877|RCV001105878|RCV001105879|RCV001105880; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:22511318089233180892311:g.31808923C>T-
NM_019040.5(ELP4):c.*3904G>A5080PAX6Conflicting interpretations of pathogenicity3026397RCV000262281|RCV000297518|RCV000301027|RCV000351329|RCV000354753|RCV000358577|RCV000393773|RCV003389781; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:25092113180897631808976NC_000011.9:g.31808976G>AClinGen:CA10638294CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3920C>T5080PAX6Uncertain significance886048191RCV000266223|RCV000269812|RCV000292096|RCV000323647|RCV000327175|RCV000380672|RCV000384062; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|M113180899231808992NC_000011.9:g.31808992C>TClinGen:CA10638304CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3978T>C5080PAX6Uncertain significance886048192RCV000280577|RCV000295766|RCV000338007|RCV000334355|RCV000349502|RCV000387741|RCV000400105; NMedGen:C0663995|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:C5680330,Orphan113180905031809050NC_000011.9:g.31809050T>CClinGen:CA10638905CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3994C>A5080PAX6Benign/Likely benign79739975RCV000265732|RCV000305849|RCV000309419|RCV000360468|RCV000364054|RCV000407135|RCV000407121|RCV002244776; NMONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Huma113180906631809066NC_000011.9:g.31809066C>AClinGen:CA10634568CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3998C>T5080PAX6Benign662702RCV000262036|RCV000295981|RCV000317253|RCV000332508|RCV000320954|RCV000357038|RCV000371951|RCV001521376|RCV001598649; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:M113180907031809070NC_000011.9:g.31809070C>TClinGen:CA10634573CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4017A>G5080PAX6Uncertain significance886048193RCV000288625|RCV000292600|RCV000343698|RCV000347571|RCV000386979|RCV000401196|RCV000390045; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,113180908931809089NC_000011.9:g.31809089A>GClinGen:CA10634576CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4056G>A5080PAX6Uncertain significance1948752515RCV001108209|RCV001108206|RCV001108208|RCV001108207; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C066399511318091283180912811:g.31809128G>A-
NM_019040.5(ELP4):c.*4105C>T5080PAX6Benign73477656RCV000287214|RCV000298046|RCV000283877|RCV000338811|RCV000342146|RCV000378342|RCV000402026|RCV001683228; NMONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedG113180917731809177NC_000011.9:g.31809177C>TClinGen:CA10634593CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4172A>C5080PAX6Benign/Likely benign73477658RCV000274301|RCV000334283|RCV000310659|RCV000313354|RCV000365290|RCV000368069|RCV000393911; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|M113180924431809244NC_000011.9:g.31809244A>CClinGen:CA10634594CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4251G>A5080PAX6Conflicting interpretations of pathogenicity3026396RCV000296038|RCV000311443|RCV000337321|RCV000347635|RCV000350910|RCV000371876|RCV000401325; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0020147,MedGen:C5680330,Orpha113180932331809323NC_000011.9:g.31809323G>AClinGen:CA10638914CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4323G>T5080PAX6Uncertain significance923696320RCV001106078|RCV001106077|RCV001106079|RCV001106080; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318093953180939511:g.31809395G>T-
NM_019040.5(ELP4):c.*4441T>C5080PAX6Uncertain significance1452069622RCV001108310|RCV001108311|RCV001108312|RCV001108309; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C066399511318095133180951311:g.31809513T>C-
NM_019040.5(ELP4):c.*4542G>T5080PAX6Uncertain significance1948792866RCV001108313|RCV001108315|RCV001108314|RCV001108316; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318096143180961411:g.31809614G>T-
NM_019040.5(ELP4):c.*4571A>G5080PAX6Uncertain significance1029065786RCV001103108|RCV001103105|RCV001103106|RCV001103107; NMedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318096433180964311:g.31809643A>G-
NM_019040.5(ELP4):c.*4889G>A5080PAX6Uncertain significance886048196RCV000260716|RCV000295352|RCV000316416|RCV000319439|RCV000331591|RCV000374058|RCV000389641; NMedGen:CN239197|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,113180996131809961NC_000011.9:g.31809961G>AClinGen:CA10630734CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4974C>T5080PAX6Benign/Likely benign138035131RCV001106175|RCV001106176|RCV001106178|RCV001106177|RCV001108390; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318100463181004611:g.31810046C>T-
NM_019040.5(ELP4):c.*5016T>G5080PAX6Uncertain significance776894983RCV000276870|RCV000300342|RCV000303659|RCV000331972|RCV000355143|RCV000358612|RCV000391903; NHuman Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:113181008831810088NC_000011.9:g.31810088T>GClinGen:CA10630735CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*5123T>A5080PAX6Conflicting interpretations of pathogenicity576321279RCV000275545|RCV000288319|RCV000328249|RCV000326989|RCV000367996|RCV000385089|RCV000379158; NMedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|Human Phenotype Ontology:HP:0000526,MONDO:MONDO113181019531810195NC_000011.9:g.31810195T>AClinGen:CA10630736CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*5226T>A5080PAX6Benign1506RCV000280988|RCV000286998|RCV000298746|RCV000338402|RCV000339784|RCV000398435|RCV000399005|RCV001642941; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148113181029831810298NC_000011.9:g.31810298T>AClinGen:CA10630739CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*5357A>G5080PAX6Uncertain significance886048197RCV000264439|RCV000270395|RCV000281996|RCV000322584|RCV000321837|RCV000374150|RCV000379592; NMedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orph113181042931810429NC_000011.9:g.31810429A>GClinGen:CA10634597CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*5471T>C5080PAX6Uncertain significance886048198RCV000296426|RCV000309431|RCV000334588|RCV000347675|RCV000348998|RCV000372909|RCV000401108; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen113181054331810543NC_000011.9:g.31810543T>CClinGen:CA10634599CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*891G>A5080PAX6Conflicting interpretations of pathogenicity530259403RCV000262557|RCV000268406|RCV000302550|RCV000308213|RCV000360559|RCV000359529|RCV000402118; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Or11318105913181059111:g.31810591C>TClinGen:CA10638306CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*842G>A5080PAX6Benign/Likely benign115045926RCV001103303|RCV001103304|RCV001103305|RCV001103306|RCV001103307|RCV001103308|RCV002282456; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:23311318106403181064011:g.31810640C>T-
NM_001368894.2(PAX6):c.*841C>T5080PAX6Conflicting interpretations of pathogenicity530931929RCV000261503|RCV000293262|RCV000320109|RCV000333079|RCV000350505|RCV000372434|RCV000388786; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:00011318106413181064111:g.31810641G>AClinGen:CA10638915CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*626G>C5080PAX6Uncertain significance1250874661RCV001105214|RCV001105216|RCV001105215|RCV001105213; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318108563181085611:g.31810856C>G-
NM_001368894.2(PAX6):c.*357A>T5080PAX6Uncertain significance774473337RCV000263589|RCV000276474|RCV000297659|RCV000303539|RCV000329980|RCV000354835|RCV000356053; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|H11318111253181112511:g.31811125T>AClinGen:CA10638924CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*272T>G5080PAX6Uncertain significance934715799RCV001103392|RCV001103393|RCV001103390|RCV001103391; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C066399511318112103181121011:g.31811210A>C-
NM_001368894.2(PAX6):c.*247T>A5080PAX6Uncertain significance1468270124RCV001103394|RCV001103395|RCV001105304|RCV001105305; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318112353181123511:g.31811235A>T-
NM_001368894.2(PAX6):c.*226T>C5080PAX6Uncertain significance753595935RCV000267048|RCV000279082|RCV000284798|RCV000318915|RCV000324563|RCV000375806|RCV000377012; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|MONDO:MONDO:0020147,MedGen:C5680330,Orpha11318112563181125611:g.31811256A>GClinGen:CA10638307CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*207G>A5080PAX6Uncertain significance886048199RCV000292153|RCV000307259|RCV000336527|RCV000351716|RCV000366665|RCV000396936|RCV000401650; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:11318112753181127511:g.31811275C>TClinGen:CA10634610CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*183dup5080PAX6Uncertain significance886048200RCV000259852|RCV000268454|RCV000304643|RCV000303579|RCV000354831|RCV000358490|RCV000401821; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708|MedGen:CN239197|Human Phenotype O11318112983181129911:g.31811298_31811299insTClinGen:CA10634612CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*90A>C5080PAX6Uncertain significance572377074RCV001106439|RCV001106440|RCV001108643|RCV001108644; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318113923181139211:g.31811392T>G-
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)5080PAX6Uncertain significance75572362RCV001103476|RCV001103478|RCV001103477|RCV001103479; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318150683181506811:g.31815068C>T-
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)5080PAX6Conflicting interpretations of pathogenicity373147550RCV000761769|RCV001103480|RCV001103481|RCV001103482|RCV001103483|RCV002061032; NMedGen:C3661900|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:10621113181507531815075NC_000011.9:g.31815075A>G-
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)5080PAX6Conflicting interpretations of pathogenicity779631884RCV001105398|RCV001105400|RCV001105399|RCV001105401|RCV001105397; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318150883181508811:g.31815088T>A-
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)5080PAX6Conflicting interpretations of pathogenicity202154006RCV001105402|RCV001105403|RCV001105404|RCV001106540|RCV001106541|RCV001106542|RCV002067781; NMONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024511318152493181524911:g.31815249A>G-
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)5080PAX6Uncertain significance1592415376RCV001106543|RCV001106545|RCV001106544|RCV001106546; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C066399511318152733181527311:g.31815273T>C-
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)5080PAX6Conflicting interpretations of pathogenicity149053004RCV000263284|RCV000273738|RCV000298558|RCV000299533|RCV000333506|RCV000353328|RCV000368216|RCV000865074|RCV001683229; NMedGen:CN239197|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0020147,MedGen:C568033113181528531815285NC_000011.9:g.31815285C>TClinGen:CA5933788CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.808-12C>T5080PAX6Conflicting interpretations of pathogenicity667773RCV000248742|RCV000284718|RCV000269341|RCV000339789|RCV000329038|RCV000380248|RCV000383559|RCV000382578|RCV001512870|RCV001683027|RCV002226702; NMedGen:CN169374|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:985511318153623181536211:g.31815362G>AClinGen:CA5933790CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.753G>A (p.Val251=)5080PAX6Conflicting interpretations of pathogenicity145329506RCV000285944|RCV000301339|RCV000310966|RCV000336368|RCV000337620|RCV000398566|RCV000394809|RCV001566375|RCV001514487; NMedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:25092113181563431815634NC_000011.9:g.31815634C>TClinGen:CA5933808CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)5080PAX6Uncertain significance373715028RCV001105486|RCV001105487|RCV001105488|RCV001105489; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318162123181621211:g.31816212G>A-
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)5080PAX6Uncertain significance886048202RCV000273315|RCV000308509|RCV000328376|RCV000359559|RCV000363235|RCV000370306|RCV000399419; NMedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen113181631331816313NC_000011.9:g.31816313C>GClinGen:CA10638933CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)5080PAX6Uncertain significance1159095794RCV001106651|RCV001106648|RCV001106649|RCV001106650; NMedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318222443182224411:g.31822244G>A-
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)5080PAX6Uncertain significance1953501315RCV001106652|RCV001106654|RCV001106653|RCV001108805; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C066399511318222933182229311:g.31822293C>T-
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)5080PAX6Uncertain significance371018133RCV001108808|RCV001108807|RCV001108809|RCV001108806; NMedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:9855511318223513182235111:g.31822351C>T-
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)5080PAX6Pathogenic121907918RCV000003635|RCV000984410|RCV001851621; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708; MONDO:MONDO:0024507,MedGen:C0311318223803182238011:g.31822380G>AClinGen:CA116221,UniProtKB:P26367#VAR_003814,OMIM:607108.0012C3805604 136520 Foveal hypoplasia and presenile cataract syndrome;
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)5080PAX6Benign/Likely benign114384476RCV000264876|RCV000279921|RCV000281025|RCV000316268|RCV000324755|RCV000375488|RCV000379317|RCV000440184|RCV000525722|RCV001795924; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MOND113182313931823139NC_000011.9:g.31823139C>TClinGen:CA5933917C0344542 106210 Aniridia 1;
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)5080PAX6Conflicting interpretations of pathogenicity769095184RCV001103655|RCV001103656|RCV001103657|RCV001103658|RCV001103659|RCV001104915|RCV001856403; NMedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|M11318231913182319111:g.31823191C>T-
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)5080PAX6Likely pathogenic759557055RCV000984386; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225311318232523182325211:g.31823252C>G-
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)5080PAX6Uncertain significance1953969921RCV001105594|RCV001105595|RCV001105596|RCV001105597; NMONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C066399511318232893182328911:g.31823289C>T-
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)5080PAX6Pathogenic/Likely pathogenic397514640RCV000789036|RCV001249825|RCV001281650; NMONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN51720211318242813182428111:g.31824281G>C-
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)5080PAX6Uncertain significance1954524676RCV001106745|RCV001106746|RCV001106747|RCV001106748; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318243123182431211:g.31824312C>T-
NM_001368894.2(PAX6):c.10+5G>C5080PAX6Pathogenic587776572RCV000003648; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253113182794531827945NC_000011.9:g.31827945C>GClinGen:CA116247,OMIM:607108.0021C3805604 136520 Foveal hypoplasia and presenile cataract syndrome;
NM_001368894.2(PAX6):c.-59G>T5080PAX6Uncertain significance886048204RCV000263207|RCV000266327|RCV000301643|RCV000316832|RCV000353414|RCV000361026|RCV000399524; NMedGen:CN239197|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|H113182840431828404NC_000011.9:g.31828404C>AClinGen:CA10634613CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-107C>T5080PAX6Conflicting interpretations of pathogenicity111270711RCV000289037|RCV000292422|RCV000318475|RCV000333413|RCV000344279|RCV000386945|RCV000387982|RCV003391067; NMedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210113182845231828452NC_000011.9:g.31828452G>AClinGen:CA10638310CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-129+9G>A5080PAX6Benign/Likely benign56139994RCV000202974|RCV000290390|RCV000305825|RCV000340726|RCV000342099|RCV000401317|RCV000395429|RCV000395452|RCV001521912|RCV001610522; NMedGen:CN169374|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0007848,Med113183236731832367NC_000011.9:g.31832367C>TClinGen:CA249178CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-147_-146dup5080PAX6Uncertain significance886048205RCV000262940|RCV000275816|RCV000297718|RCV000311043|RCV000333122|RCV000357286|RCV000368036; NMONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000528,Human 113183239231832393NC_000011.9:g.31832394_31832395dupClinGen:CA10634617CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-167G>T5080PAX6Uncertain significance1956928845RCV001103751|RCV001103753|RCV001103752|RCV001103754; NMONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:233411318324143183241411:g.31832414C>A-
NM_001368894.2(PAX6):c.-368G>A5080PAX6Conflicting interpretations of pathogenicity886048206RCV000269479|RCV000272429|RCV000308255|RCV000320445|RCV000364742|RCV000370938|RCV000377350|RCV001560157; NHuman Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2113183271431832714NC_000011.9:g.31832714C>TClinGen:CA10634632CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-507T>C5080PAX6Uncertain significance886048209RCV000259992|RCV000263020|RCV000304553|RCV000317592|RCV000356027|RCV000361678|RCV000400591; NMedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:19407113183285331832853NC_000011.9:g.31832853A>GClinGen:CA10638311CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
MSeqDR Portal