Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_019040.5(ELP4):c.*1404G>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001106821|RCV001107470|RCV001107471|RCV001107472; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31806476 | 31806476 | G | C | 11:g.31806476G>C | - | | |
NM_019040.5(ELP4):c.*1615A>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001107473|RCV001107474|RCV001107475|RCV001107476; | N | MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31806687 | 31806687 | A | C | 11:g.31806687A>C | - | | |
NM_019040.5(ELP4):c.*1626G>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001103844|RCV001103845|RCV001103846|RCV001107477; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995 | 11 | 31806698 | 31806698 | G | A | 11:g.31806698G>A | - | | |
NM_019040.5(ELP4):c.*1714C>G | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs180780893 | RCV000264095|RCV000301374|RCV000304821|RCV000335218|RCV000361151|RCV000391974|RCV000402987; | N | 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|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MOND | 11 | 31806786 | 31806786 | C | G | 11:g.31806786C>G | ClinGen:CA10634545 | | |
NM_019040.5(ELP4):c.*1811A>C | 5080 | PAX6 | Benign/Likely benign | rs185968715 | RCV000278465|RCV000293624|RCV000335986|RCV000336938|RCV000375402|RCV000385650|RCV000391063; | N | 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,MedGen:C0003076, | 11 | 31806883 | 31806883 | A | C | 11:g.31806883A>C | ClinGen:CA10634547 | | |
NM_019040.5(ELP4):c.*1877A>G | 5080 | PAX6 | Uncertain significance | rs745626044 | RCV000283304|RCV000310183|RCV000313520|RCV000340700|RCV000362512|RCV000391067|RCV000405656; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:1 | 11 | 31806949 | 31806949 | A | G | 11:g.31806949A>G | ClinGen:CA10638268 | | |
NM_019040.5(ELP4):c.*2040G>C | 5080 | PAX6 | Benign/Likely benign | rs183115097 | RCV000263019|RCV000273553|RCV000315616|RCV000330932|RCV000355481|RCV000370578|RCV000372621; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MedGen:CN239197|MedGen:C0663995|MONDO:MONDO:000 | 11 | 31807112 | 31807112 | G | C | 11:g.31807112G>C | ClinGen:CA10638893 | | |
NM_019040.5(ELP4):c.*2041C>G | 5080 | PAX6 | Uncertain significance | -1 | RCV001103952|RCV001103953|RCV001103954|RCV001103955; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995 | 11 | 31807113 | 31807113 | C | G | 11:g.31807113C>G | - | | |
NM_019040.5(ELP4):c.*2114C>G | 5080 | PAX6 | Benign | rs16922475 | RCV000300259|RCV000315571|RCV000345765|RCV000357434|RCV000367340|RCV000405069|RCV000407248; | N | MONDO: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|MedG | 11 | 31807186 | 31807186 | C | G | 11:g.31807186C>G | ClinGen:CA10638895 | | |
NM_019040.5(ELP4):c.*2282G>A | 5080 | PAX6 | Uncertain significance | rs886048182 | RCV000260177|RCV000268405|RCV000291188|RCV000317778|RCV000321612|RCV000360692|RCV000383156; | N | MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MedGen:C0003076, | 11 | 31807354 | 31807354 | G | A | 11:g.31807354G>A | ClinGen:CA10638283 | | |
NM_019040.5(ELP4):c.*2334T>G | 5080 | PAX6 | Uncertain significance | rs886048183 | RCV000293699|RCV000294730|RCV000325152|RCV000337027|RCV000351915|RCV000381848|RCV000385439; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN12 | 11 | 31807406 | 31807406 | T | G | 11:g.31807406T>G | ClinGen:CA10630725 | | |
NM_019040.5(ELP4):c.*2387C>T | 5080 | PAX6 | Uncertain significance | -1 | RCV001107012|RCV001107670|RCV001107671|RCV001107672; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31807459 | 31807459 | C | T | 11:g.31807459C>T | - | | |
NM_019040.5(ELP4):c.*2407C>A | 5080 | PAX6 | Uncertain significance | rs886048184 | RCV000266868|RCV000297220|RCV000305589|RCV000335913|RCV000358057|RCV000403445|RCV000407623; | N | Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:1 | 11 | 31807479 | 31807479 | C | A | 11:g.31807479C>A | ClinGen:CA10630727 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*2452C>T | 5080 | PAX6 | Benign | rs3026401 | RCV000272675|RCV000273772|RCV000307913|RCV000327646|RCV000333466|RCV000362607|RCV000386873; | N | 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, Orphanet:2253|MedG | 11 | 31807524 | 31807524 | C | T | 11:g.31807524C>T | ClinGen:CA10634557 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*2522G>T | 5080 | PAX6 | Uncertain significance | -1 | RCV001104347|RCV001104348|RCV001104349|RCV001107099; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31807594 | 31807594 | G | T | 11:g.31807594G>T | - | | |
NM_019040.5(ELP4):c.*2664G>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs567720234 | RCV000263779|RCV000276294|RCV000317915|RCV000319012|RCV000371323|RCV000372529|RCV000378193; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:25092 | 11 | 31807736 | 31807736 | G | A | 11:g.31807736G>A | ClinGen:CA10638285 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*2673_*2674del | 5080 | PAX6 | Benign | rs141022497 | RCV000283615|RCV000288752|RCV000289781|RCV000324796|RCV000343770|RCV000379301|RCV000391691; | N | MONDO: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,MedGe | 11 | 31807745 | 31807746 | CTG | C | 11:g.31807745_31807746del | ClinGen:CA10634561 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*2710_*2711CA[2] | 5080 | PAX6 | Uncertain significance | rs886048186 | RCV000297149|RCV000314581|RCV000349666|RCV000356776|RCV000369302|RCV000391676|RCV000406035; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011 | 11 | 31807781 | 31807782 | GAC | G | 11:g.31807781_31807782del | ClinGen:CA10638896 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*2716T>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001104130|RCV001104131|RCV001107769|RCV001107770; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31807788 | 31807788 | T | C | 11:g.31807788T>C | - | | |
NM_019040.5(ELP4):c.*2845T>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001104435|RCV001104436|RCV001104437|RCV001104438; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31807917 | 31807917 | T | C | 11:g.31807917T>C | - | | |
NM_019040.5(ELP4):c.*2982G>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | -1 | RCV001104439|RCV001104440|RCV001104441|RCV001104442|RCV001107187|RCV001107188; | N | MedGen:C0663995|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, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:9855 | 11 | 31808054 | 31808054 | G | A | 11:g.31808054G>A | - | | |
NM_019040.5(ELP4):c.*2992G>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001107189|RCV001107190|RCV001107191|RCV001107192; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995 | 11 | 31808064 | 31808064 | G | A | 11:g.31808064G>A | - | | |
NM_019040.5(ELP4):c.*3164_*3165insAAAA | 5080 | PAX6 | Benign | rs34919147 | RCV000270087|RCV000299243|RCV000305344|RCV000358681|RCV000359957|RCV000392032|RCV000392047; | N | Human 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,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO: | 11 | 31808235 | 31808236 | T | TAAAA | 11:g.31808235_31808236insAAAA | ClinGen:CA10634562 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*3207T>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001107837|RCV001107838|RCV001107839|RCV001107840; | N | MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31808279 | 31808279 | T | C | 11:g.31808279T>C | - | | |
NM_019040.5(ELP4):c.*3208C>T | 5080 | PAX6 | Benign | rs608293 | RCV000271960|RCV000277532|RCV000325808|RCV000331769|RCV000332589|RCV000366442|RCV000386337; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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:225 | 11 | 31808280 | 31808280 | C | T | 11:g.31808280C>T | ClinGen:CA10638899 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*3242G>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs187705792 | RCV000279154|RCV000285025|RCV000338913|RCV000339849|RCV000373184|RCV000374742|RCV000392251; | N | 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|MedGen:C0663995|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,O | 11 | 31808314 | 31808314 | G | A | 11:g.31808314G>A | ClinGen:CA10638286 | | |
NM_019040.5(ELP4):c.*3303G>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001107281|RCV001107282|RCV001107283|RCV001107284; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31808375 | 31808375 | G | A | 11:g.31808375G>A | - | | |
NM_019040.5(ELP4):c.*3383C>T | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs541022955 | RCV000273407|RCV000304870|RCV000308649|RCV000314634|RCV000345738|RCV000367972|RCV000392243; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2 | 11 | 31808455 | 31808455 | C | T | 11:g.31808455C>T | ClinGen:CA10638288 | | |
NM_019040.5(ELP4):c.*3425C>T | 5080 | PAX6 | Benign/Likely benign | rs3026399 | RCV000260635|RCV000261905|RCV000315850|RCV000321786|RCV000369362|RCV000375220|RCV000376471; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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:136520 | 11 | 31808497 | 31808497 | C | T | 11:g.31808497C>T | ClinGen:CA10638289 | | |
NM_019040.5(ELP4):c.*3433G>T | 5080 | PAX6 | Likely benign | rs192709453 | RCV000285847|RCV000289228|RCV000311467|RCV000343063|RCV000346404|RCV000381317|RCV000399807; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:C0663995|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:1 | 11 | 31808505 | 31808505 | G | T | 11:g.31808505G>T | ClinGen:CA10638291 | | |
NM_019040.5(ELP4):c.*3504T>C | 5080 | PAX6 | Uncertain significance | rs886048187 | RCV000260837|RCV000299309|RCV000314745|RCV000349922|RCV000353270|RCV000356446|RCV000393908; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0007848,MedGen:C1835 | 11 | 31808576 | 31808576 | T | C | 11:g.31808576T>C | ClinGen:CA10638900 | | |
NM_019040.5(ELP4):c.*3509A>G | 5080 | PAX6 | Benign/Likely benign | rs542906080 | RCV000263956|RCV000267644|RCV000291853|RCV000321448|RCV000325181|RCV000360034|RCV000382078; | N | MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|M | 11 | 31808581 | 31808581 | A | G | 11:g.31808581A>G | ClinGen:CA10630731 | | |
NM_019040.5(ELP4):c.*3514_*3517dup | 5080 | PAX6 | Benign | rs397795797 | RCV000279797|RCV000295258|RCV000330541|RCV000337230|RCV000352420|RCV000387389|RCV000401427; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|Human Phenotype Ontology:HP:0000659,MONDO:MONDO | 11 | 31808585 | 31808586 | A | AAAAT | 11:g.31808585_31808586insAAAT | ClinGen:CA10638901 | | |
NM_019040.5(ELP4):c.*3523del | 5080 | PAX6 | Uncertain significance | rs886048188 | RCV000270919|RCV000302597|RCV000305976|RCV000359771|RCV000363009|RCV000407418|RCV000407420; | N | 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|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344 | 11 | 31808595 | 31808595 | TC | T | 11:g.31808595_31808595del | ClinGen:CA10638902 | | |
NM_019040.5(ELP4):c.*3588A>G | 5080 | PAX6 | Uncertain significance | -1 | RCV001107371|RCV001107372|RCV001107373|RCV001108027; | N | MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31808660 | 31808660 | A | G | 11:g.31808660A>G | - | | |
NM_019040.5(ELP4):c.*3703_*3705del | 5080 | PAX6 | Uncertain significance | rs886048189 | RCV000280659|RCV000284700|RCV000338068|RCV000341992|RCV000372839|RCV000401024|RCV000402077; | N | MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype O | 11 | 31808775 | 31808777 | CGCT | C | 11:g.31808775_31808777del | ClinGen:CA10630732 | | |
NM_019040.5(ELP4):c.*3703G>A | 5080 | PAX6 | Benign | rs3026398 | RCV000276213|RCV000306938|RCV000311393|RCV000314986|RCV000363855|RCV000368371|RCV000392121; | N | MONDO: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:CN120488, | 11 | 31808775 | 31808775 | G | A | 11:g.31808775G>A | ClinGen:CA10638904 | | |
NM_019040.5(ELP4):c.*3706T>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001102804|RCV001102805|RCV001102806|RCV001108028; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31808778 | 31808778 | T | A | 11:g.31808778T>A | - | | |
NM_019040.5(ELP4):c.*3713A>T | 5080 | PAX6 | Benign/Likely benign | rs138881442 | RCV000260907|RCV000264021|RCV000318395|RCV000321546|RCV000353194|RCV000375323|RCV000378379; | N | MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:CN120488, | 11 | 31808785 | 31808785 | A | T | 11:g.31808785A>T | ClinGen:CA10638293 | | |
NM_019040.5(ELP4):c.*3715T>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001104730|RCV001104731|RCV001104732|RCV001104733; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31808787 | 31808787 | T | A | 11:g.31808787T>A | - | | |
NM_019040.5(ELP4):c.*3772G>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001104734|RCV001104735|RCV001105873|RCV001105874; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995 | 11 | 31808844 | 31808844 | G | C | 11:g.31808844G>C | - | | |
NM_019040.5(ELP4):c.*3851C>T | 5080 | PAX6 | Benign | -1 | RCV001105875|RCV001105876|RCV001105877|RCV001105878|RCV001105879|RCV001105880; | N | MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225 | 11 | 31808923 | 31808923 | C | T | 11:g.31808923C>T | - | | |
NM_019040.5(ELP4):c.*3904G>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs3026397 | RCV000262281|RCV000297518|RCV000301027|RCV000351329|RCV000354753|RCV000358577|RCV000393773; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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:25092 | 11 | 31808976 | 31808976 | G | A | 11:g.31808976G>A | ClinGen:CA10638294 | | |
NM_019040.5(ELP4):c.*3920C>T | 5080 | PAX6 | Uncertain significance | rs886048191 | RCV000266223|RCV000269812|RCV000292096|RCV000323647|RCV000327175|RCV000380672|RCV000384062; | N | MONDO: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:CN120488, Orphanet:98555|M | 11 | 31808992 | 31808992 | C | T | 11:g.31808992C>T | ClinGen:CA10638304 | | |
NM_019040.5(ELP4):c.*3978T>C | 5080 | PAX6 | Uncertain significance | rs886048192 | RCV000280577|RCV000295766|RCV000334355|RCV000338007|RCV000349502|RCV000387741|RCV000400105; | N | MedGen:C0663995|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120 | 11 | 31809050 | 31809050 | T | C | 11:g.31809050T>C | ClinGen:CA10638905 | | |
NM_019040.5(ELP4):c.*3994C>A | 5080 | PAX6 | Benign/Likely benign | rs79739975 | RCV000265732|RCV000305849|RCV000309419|RCV000360468|RCV000364054|RCV000407121|RCV000407135; | N | 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:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Huma | 11 | 31809066 | 31809066 | C | A | 11:g.31809066C>A | ClinGen:CA10634568 | | |
NM_019040.5(ELP4):c.*3998C>T | 5080 | PAX6 | Benign | rs662702 | RCV000262036|RCV000295981|RCV000317253|RCV000320954|RCV000332508|RCV000357038|RCV000371951; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype O | 11 | 31809070 | 31809070 | C | T | 11:g.31809070C>T | ClinGen:CA10634573 | | |
NM_019040.5(ELP4):c.*4017A>G | 5080 | PAX6 | Uncertain significance | rs886048193 | RCV000288625|RCV000292600|RCV000343698|RCV000347571|RCV000386979|RCV000390045|RCV000401196; | N | MONDO: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|MONDO:MONDO:0020147,MedGen:CN120488, | 11 | 31809089 | 31809089 | A | G | 11:g.31809089A>G | ClinGen:CA10634576 | | |
NM_019040.5(ELP4):c.*4056G>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001108206|RCV001108207|RCV001108208|RCV001108209; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31809128 | 31809128 | G | A | 11:g.31809128G>A | - | | |
NM_019040.5(ELP4):c.*4105C>T | 5080 | PAX6 | Benign | rs73477656 | RCV000283877|RCV000287214|RCV000298046|RCV000338811|RCV000342146|RCV000378342|RCV000402026; | N | 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|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedG | 11 | 31809177 | 31809177 | C | T | 11:g.31809177C>T | ClinGen:CA10634593 | | |
NM_019040.5(ELP4):c.*4172A>C | 5080 | PAX6 | Benign/Likely benign | rs73477658 | RCV000274301|RCV000310659|RCV000313354|RCV000334283|RCV000365290|RCV000368069|RCV000393911; | N | MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|M | 11 | 31809244 | 31809244 | A | C | 11:g.31809244A>C | ClinGen:CA10634594 | | |
NM_019040.5(ELP4):c.*4251G>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs3026396 | RCV000296038|RCV000311443|RCV000337321|RCV000347635|RCV000350910|RCV000371876|RCV000401325; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0020147,MedGen:CN12 | 11 | 31809323 | 31809323 | G | A | 11:g.31809323G>A | ClinGen:CA10638914 | | |
NM_019040.5(ELP4):c.*4323G>T | 5080 | PAX6 | Uncertain significance | -1 | RCV001106077|RCV001106078|RCV001106079|RCV001106080; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31809395 | 31809395 | G | T | 11:g.31809395G>T | - | | |
NM_019040.5(ELP4):c.*4441T>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001108309|RCV001108310|RCV001108311|RCV001108312; | N | MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31809513 | 31809513 | T | C | 11:g.31809513T>C | - | | |
NM_019040.5(ELP4):c.*4542G>T | 5080 | PAX6 | Uncertain significance | -1 | RCV001108313|RCV001108314|RCV001108315|RCV001108316; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31809614 | 31809614 | G | T | 11:g.31809614G>T | - | | |
NM_019040.5(ELP4):c.*4571A>G | 5080 | PAX6 | Uncertain significance | -1 | RCV001103105|RCV001103106|RCV001103107|RCV001103108; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995 | 11 | 31809643 | 31809643 | A | G | 11:g.31809643A>G | - | | |
NM_019040.5(ELP4):c.*4889G>A | 5080 | PAX6 | Uncertain significance | rs886048196 | RCV000260716|RCV000295352|RCV000316416|RCV000319439|RCV000331591|RCV000374058|RCV000389641; | N | MedGen:CN239197|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:C0663995|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen | 11 | 31809961 | 31809961 | G | A | 11:g.31809961G>A | ClinGen:CA10630734 | | |
NM_019040.5(ELP4):c.*4974C>T | 5080 | PAX6 | Benign/Likely benign | -1 | RCV001106175|RCV001106176|RCV001106177|RCV001106178|RCV001108390; | N | MONDO: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:CN120488, Orphanet:98555 | 11 | 31810046 | 31810046 | C | T | 11:g.31810046C>T | - | | |
NM_019040.5(ELP4):c.*5016T>G | 5080 | PAX6 | Uncertain significance | rs776894983 | RCV000276870|RCV000300342|RCV000303659|RCV000331972|RCV000355143|RCV000358612|RCV000391903; | N | Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:985 | 11 | 31810088 | 31810088 | T | G | 11:g.31810088T>G | ClinGen:CA10630735 | | |
NM_019040.5(ELP4):c.*5123T>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs576321279 | RCV000275545|RCV000288319|RCV000326989|RCV000328249|RCV000367996|RCV000379158|RCV000385089; | N | MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190 | 11 | 31810195 | 31810195 | T | A | 11:g.31810195T>A | ClinGen:CA10630736 | | |
NM_019040.5(ELP4):c.*5226T>A | 5080 | PAX6 | Benign | rs1506 | RCV000280988|RCV000286998|RCV000298746|RCV000338402|RCV000339784|RCV000398435|RCV000399005; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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:148 | 11 | 31810298 | 31810298 | T | A | 11:g.31810298T>A | ClinGen:CA10630739 | | |
NM_019040.5(ELP4):c.*5471T>C | 5080 | PAX6 | Uncertain significance | rs886048198 | RCV000296426|RCV000309431|RCV000334588|RCV000347675|RCV000348998|RCV000372909|RCV000401108; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106 | 11 | 31810543 | 31810543 | T | C | 11:g.31810543T>C | ClinGen:CA10634599 | | |
NM_001368894.2(PAX6):c.*842G>A | 5080 | PAX6 | Benign | -1 | RCV001103303|RCV001103304|RCV001103305|RCV001103306|RCV001103307|RCV001103308; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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:233 | 11 | 31810640 | 31810640 | C | T | 11:g.31810640C>T | - | | |
NM_019040.5(ELP4):c.*5569G>A | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs530931929 | RCV000261503|RCV000293262|RCV000320109|RCV000333079|RCV000350505|RCV000372434|RCV000388786; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:000 | 11 | 31810641 | 31810641 | G | A | 11:g.31810641G>A | ClinGen:CA10638915 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_001368894.2(PAX6):c.*626G>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001105213|RCV001105214|RCV001105215|RCV001105216; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995 | 11 | 31810856 | 31810856 | C | G | 11:g.31810856C>G | - | | |
NM_019040.5(ELP4):c.*6053T>A | 5080 | PAX6 | Uncertain significance | rs774473337 | RCV000263589|RCV000276474|RCV000297659|RCV000303539|RCV000329980|RCV000354835|RCV000356053; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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|H | 11 | 31811125 | 31811125 | T | A | 11:g.31811125T>A | ClinGen:CA10638924 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*6054A>T | 5080 | PAX6 | Uncertain significance | rs774392481 | RCV000282065|RCV000283296|RCV000313631|RCV000334653|RCV000340604|RCV000397731|RCV000399607; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN12 | 11 | 31811126 | 31811126 | A | T | 11:g.31811126A>T | ClinGen:CA10634600 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_001368894.2(PAX6):c.*272T>G | 5080 | PAX6 | Uncertain significance | -1 | RCV001103390|RCV001103391|RCV001103392|RCV001103393; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31811210 | 31811210 | A | C | 11:g.31811210A>C | - | | |
NM_001368894.2(PAX6):c.*247T>A | 5080 | PAX6 | Uncertain significance | -1 | RCV001103394|RCV001103395|RCV001105304|RCV001105305; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31811235 | 31811235 | A | T | 11:g.31811235A>T | - | | |
NM_019040.5(ELP4):c.*6184A>G | 5080 | PAX6 | Uncertain significance | rs753595935 | RCV000267048|RCV000279082|RCV000284798|RCV000318915|RCV000324563|RCV000375806|RCV000377012; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|MONDO:MONDO:0020147,MedGen:CN12 | 11 | 31811256 | 31811256 | A | G | 11:g.31811256A>G | ClinGen:CA10638307 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*6203C>T | 5080 | PAX6 | Uncertain significance | rs886048199 | RCV000292153|RCV000307259|RCV000336527|RCV000351716|RCV000366665|RCV000396936|RCV000401650; | N | MONDO:MONDO:0020147,MedGen:CN120488, 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,MedGen:C0003076,OMIM:PS1062 | 11 | 31811275 | 31811275 | C | T | 11:g.31811275C>T | ClinGen:CA10634610 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_019040.5(ELP4):c.*6227dup | 5080 | PAX6 | Uncertain significance | rs886048200 | RCV000259852|RCV000268454|RCV000303579|RCV000304643|RCV000354831|RCV000358490|RCV000401821; | N | MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:CN239197|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708|Human Phenotype O | 11 | 31811298 | 31811299 | A | AT | 11:g.31811298_31811299insT | ClinGen:CA10634612 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_001368894.2(PAX6):c.*90A>C | 5080 | PAX6 | Uncertain significance | -1 | RCV001106439|RCV001106440|RCV001108643|RCV001108644; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31811392 | 31811392 | T | G | 11:g.31811392T>G | - | | |
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) | 5080 | PAX6 | Uncertain significance | -1 | RCV001103476|RCV001103477|RCV001103478|RCV001103479; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31815068 | 31815068 | C | T | 11:g.31815068C>T | - | | |
NM_000280.4(PAX6):c.943T>C (p.Leu315=) | 5080 | PAX6 | Uncertain significance | rs373147550 | RCV000761769|RCV001103480|RCV001103481|RCV001103482|RCV001103483; | N | MedGen:CN517202|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31815075 | 31815075 | A | G | 11:g.31815075A>G | - | | |
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) | 5080 | PAX6 | Conflicting interpretations of pathogenicity | -1 | RCV001105397|RCV001105398|RCV001105399|RCV001105400|RCV001105401; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31815088 | 31815088 | T | A | 11:g.31815088T>A | - | | |
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) | 5080 | PAX6 | Conflicting interpretations of pathogenicity | -1 | RCV001105402|RCV001105403|RCV001105404|RCV001106540|RCV001106541|RCV001106542; | N | MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:00245 | 11 | 31815249 | 31815249 | A | G | 11:g.31815249A>G | - | | |
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) | 5080 | PAX6 | Uncertain significance | -1 | RCV001106543|RCV001106544|RCV001106545|RCV001106546; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995 | 11 | 31815273 | 31815273 | T | C | 11:g.31815273T>C | - | | |
NM_000280.4(PAX6):c.831G>A (p.Gln277=) | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs149053004 | RCV000263284|RCV000273738|RCV000298558|RCV000299533|RCV000333506|RCV000353328|RCV000368216|RCV000865074; | N | MedGen: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:CN12048 | 11 | 31815285 | 31815285 | C | T | 11:g.31815285C>T | ClinGen:CA5933788 | | |
NM_000280.4(PAX6):c.766-12C>T | 5080 | PAX6 | Benign | rs667773 | RCV000248742|RCV000269341|RCV000284718|RCV000329038|RCV000339789|RCV000380248|RCV000382578|RCV000383559; | N | MedGen:CN169374|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225 | 11 | 31815362 | 31815362 | G | A | 11:g.31815362G>A | ClinGen:CA5933790 | CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability; | |
NM_000280.4(PAX6):c.711G>A (p.Val237=) | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs145329506 | RCV000285944|RCV000301339|RCV000310966|RCV000336368|RCV000337620|RCV000394809|RCV000398566; | N | MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:25092 | 11 | 31815634 | 31815634 | C | T | 11:g.31815634C>T | ClinGen:CA5933808 | | |
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) | 5080 | PAX6 | Uncertain significance | -1 | RCV001105486|RCV001105487|RCV001105488|RCV001105489; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555 | 11 | 31816212 | 31816212 | G | A | 11:g.31816212G>A | - | | |
NM_000280.4(PAX6):c.547G>C (p.Gly183Arg) | 5080 | PAX6 | Uncertain significance | rs886048202 | RCV000273315|RCV000308509|RCV000328376|RCV000359559|RCV000363235|RCV000370306|RCV000399419; | N | MedGen:CN239197|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0007 | 11 | 31816313 | 31816313 | C | G | 11:g.31816313C>G | ClinGen:CA10638933 | | |
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) | 5080 | PAX6 | Uncertain significance | -1 | RCV001106648|RCV001106649|RCV001106650|RCV001106651; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MedGen:C0663995 | 11 | 31822244 | 31822244 | G | A | 11:g.31822244G>A | - | | |
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) | 5080 | PAX6 | Uncertain significance | -1 | RCV001106652|RCV001106653|RCV001106654|RCV001108805; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995 | 11 | 31822293 | 31822293 | C | T | 11:g.31822293C>T | - | | |
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) | 5080 | PAX6 | Uncertain significance | -1 | RCV001108806|RCV001108807|RCV001108808|RCV001108809; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31822351 | 31822351 | C | T | 11:g.31822351C>T | - | | |
NM_000280.4(PAX6):c.382C>T (p.Arg128Cys) | 5080 | PAX6 | Pathogenic | rs121907918 | RCV000003635|RCV000984410; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923 | 11 | 31822380 | 31822380 | G | A | 11:g.31822380G>A | ClinGen:CA116221,UniProtKB:P26367#VAR_003814,OMIM:607108.0012 | C3805604 136520 Foveal hypoplasia and presenile cataract syndrome; | |
NM_000280.4(PAX6):c.327G>A (p.Glu109=) | 5080 | PAX6 | Benign/Likely benign | rs114384476 | RCV000264876|RCV000279921|RCV000281025|RCV000316268|RCV000324755|RCV000375488|RCV000379317|RCV000440184|RCV000525722; | N | 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:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MOND | 11 | 31823139 | 31823139 | C | T | 11:g.31823139C>T | ClinGen:CA5933917 | | |
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) | 5080 | PAX6 | Conflicting interpretations of pathogenicity | -1 | RCV001103655|RCV001103656|RCV001103657|RCV001103658|RCV001103659|RCV001104915; | N | MedGen:C0663995|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|M | 11 | 31823191 | 31823191 | C | T | 11:g.31823191C>T | - | | |
NM_000280.4(PAX6):c.214G>C (p.Gly72Arg) | 5080 | PAX6 | Likely pathogenic | rs759557055 | RCV000984386; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31823252 | 31823252 | C | G | 11:g.31823252C>G | - | | |
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) | 5080 | PAX6 | Uncertain significance | -1 | RCV001105594|RCV001105595|RCV001105596|RCV001105597; | N | MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995 | 11 | 31823289 | 31823289 | C | T | 11:g.31823289C>T | - | | |
NM_000280.4(PAX6):c.112C>G (p.Arg38Gly) | 5080 | PAX6 | Pathogenic | rs397514640 | RCV000789036|RCV001249825; | N | MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31824281 | 31824281 | G | C | 11:g.31824281G>C | - | | |
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) | 5080 | PAX6 | Uncertain significance | -1 | RCV001106745|RCV001106746|RCV001106747|RCV001106748; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MedGen:C0663995|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31824312 | 31824312 | C | T | 11:g.31824312C>T | - | | |
NM_000280.4(PAX6):c.10+5G>C | 5080 | PAX6 | Pathogenic | rs587776572 | RCV000003648; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253 | 11 | 31827945 | 31827945 | C | G | 11:g.31827945C>G | ClinGen:CA116247,OMIM:607108.0021 | | |
NM_000280.4(PAX6):c.-59G>T | 5080 | PAX6 | Uncertain significance | rs886048204 | RCV000263207|RCV000266327|RCV000301643|RCV000316832|RCV000353414|RCV000361026|RCV000399524; | N | MedGen:CN239197|MONDO:MONDO:0020147,MedGen:CN120488, 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|H | 11 | 31828404 | 31828404 | C | A | 11:g.31828404C>A | ClinGen:CA10634613 | | |
NM_000280.4(PAX6):c.-107C>T | 5080 | PAX6 | Conflicting interpretations of pathogenicity | rs111270711 | RCV000289037|RCV000292422|RCV000318475|RCV000333413|RCV000344279|RCV000386945|RCV000387982; | N | MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210 | 11 | 31828452 | 31828452 | G | A | 11:g.31828452G>A | ClinGen:CA10638310 | | |
NM_000280.4(PAX6):c.-129+9G>A | 5080 | PAX6 | Benign/Likely benign | rs56139994 | RCV000202974|RCV000290390|RCV000305825|RCV000340726|RCV000342099|RCV000395429|RCV000395452|RCV000401317; | N | MedGen: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,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MONDO:MONDO:0 | 11 | 31832367 | 31832367 | C | T | 11:g.31832367C>T | ClinGen:CA249178 | | |
NM_000280.4(PAX6):c.-147_-146dup | 5080 | PAX6 | Uncertain significance | rs886048205 | RCV000262940|RCV000275816|RCV000297718|RCV000311043|RCV000333122|RCV000357286|RCV000368036; | N | MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072, Orphanet:893|Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|Human Phenotype Ontology:HP:0000 | 11 | 31832392 | 31832393 | T | TTC | 11:g.31832392_31832393insTC | ClinGen:CA10634617 | | |
NM_001368894.2(PAX6):c.-167G>T | 5080 | PAX6 | Uncertain significance | -1 | RCV001103751|RCV001103752|RCV001103753|RCV001103754; | N | MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MedGen:C0663995|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334 | 11 | 31832414 | 31832414 | C | A | 11:g.31832414C>A | - | | |
NM_000280.4(PAX6):c.-368G>A | 5080 | PAX6 | Uncertain significance | rs886048206 | RCV000269479|RCV000272429|RCV000308255|RCV000320445|RCV000364742|RCV000370938|RCV000377350; | N | Human Phenotype Ontology:HP:0000526,MedGen:C0003076,OMIM:PS106210, Orphanet:250923|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, | 11 | 31832714 | 31832714 | C | T | 11:g.31832714C>T | ClinGen:CA10634632 | | |
NM_000280.4(PAX6):c.-507T>C | 5080 | PAX6 | Uncertain significance | rs886048209 | RCV000259992|RCV000263020|RCV000304553|RCV000317592|RCV000356027|RCV000361678|RCV000400591; | N | MedGen:C0663995|MedGen:CN239197|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:19407 | 11 | 31832853 | 31832853 | A | G | 11:g.31832853A>G | ClinGen:CA10638311 | | |