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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Nystagmus, Congenital (D020417)
..Starting node ..O'Donnell Pappas syndrome (C537858)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Foveal Hypoplasia, Isolated (C565005)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Mental retardation Mietens Weber type (C537444)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Nystagmus 1, congenital, X- linked (C537853)
..Nystagmus 2, congenital, autosomal dominant (C537854)
..Nystagmus 3, congenital, autosomal dominant (C537855)
..Nystagmus 4, congenital, autosomal dominant (C537856)
..NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
..Nystagmus, Congenital Motor, Autosomal Recessive (C564938)
..O'Donnell Pappas syndrome (C537858)
..X-Linked Infantile Nystagmus (C580539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: PAX6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006934	Congenital nystagmus
3	HP:0007750	Hypoplasia of the fovea
4	HP:0007819	Presenile cataracts
5	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_019040.5(ELP4):c.*1302T>C	5080	PAX6	Benign/Likely benign	rs146579778	RCV000262804\|RCV000268453\|RCV000271935\|RCV000296937\|RCV000321208\|RCV000354188\|RCV000378162;	N	MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076\|MedGen:CN239197\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orph	11	31806374	31806374	NC_000011.9:g.31806374T>C	ClinGen:CA10634537	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*1404G>C	5080	PAX6	Uncertain significance	rs748381549	RCV001106821\|RCV001107470\|RCV001107472\|RCV001107471;	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	31806476	31806476	11:g.31806476G>C	-
NM_019040.5(ELP4):c.*1615A>C	5080	PAX6	Uncertain significance	rs1171230486	RCV001107474\|RCV001107475\|RCV001107476\|RCV001107473;	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	31806687	31806687	11:g.31806687A>C	-
NM_019040.5(ELP4):c.*1626G>A	5080	PAX6	Uncertain significance	rs1269133831	RCV001103845\|RCV001103844\|RCV001103846\|RCV001107477;	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	31806698	31806698	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	NC_000011.9:g.31806786C>G	ClinGen:CA10634545	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019	11	31806883	31806883	NC_000011.9:g.31806883A>C	ClinGen:CA10634547	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orph	11	31806949	31806949	NC_000011.9:g.31806949A>G	ClinGen:CA10638268	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2040G>C	5080	PAX6	Benign/Likely benign	rs183115097	RCV000263019\|RCV000273553\|RCV000315616\|RCV000330932\|RCV000355481\|RCV000372621\|RCV000370578;	N	MONDO: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,MedGe	11	31807112	31807112	NC_000011.9:g.31807112G>C	ClinGen:CA10638893	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2041C>G	5080	PAX6	Uncertain significance	rs544117348	RCV001103952\|RCV001103954\|RCV001103953\|RCV001103955;	N	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\|MedGen:C0663995	11	31807113	31807113	11:g.31807113C>G	-
NM_019040.5(ELP4):c.*2114C>G	5080	PAX6	Benign	rs16922475	RCV000300259\|RCV000315571\|RCV000345765\|RCV000357434\|RCV000367340\|RCV000407248\|RCV000405069;	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	NC_000011.9:g.31807186C>G	ClinGen:CA10638895	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019	11	31807354	31807354	NC_000011.9:g.31807354G>A	ClinGen:CA10638283	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2334T>G	5080	PAX6	Uncertain significance	rs886048183	RCV000294730\|RCV000293699\|RCV000325152\|RCV000337027\|RCV000351915\|RCV000381848\|RCV000385439;	N	MedGen:CN239197\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|Human Phenotype Ontology:HP:0000526,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MONDO:MONDO:0020147,MedGen:CN120488,Orpha	11	31807406	31807406	NC_000011.9:g.31807406T>G	ClinGen:CA10630725	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2387C>T	5080	PAX6	Uncertain significance	rs990066045	RCV001107012\|RCV001107672\|RCV001107671\|RCV001107670;	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	31807459	31807459	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,MONDO:MONDO:0019172,MedGen:C0003076\|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,Orph	11	31807479	31807479	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\|RCV001683227;	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	11:g.31807524C>T	ClinGen:CA10634557	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2522G>T	5080	PAX6	Uncertain significance	rs1948594512	RCV001104349\|RCV001104347\|RCV001104348\|RCV001107099;	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	31807594	31807594	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	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\|RCV001539679;	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	11:g.31807745_31807746del	ClinGen:CA10634561	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2710CA[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	11:g.31807781_31807782del	ClinGen:CA10638896	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*2716T>C	5080	PAX6	Uncertain significance	rs549835579	RCV001104131\|RCV001104130\|RCV001107769\|RCV001107770;	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	31807788	31807788	11:g.31807788T>C	-
NM_019040.5(ELP4):c.*2845T>C	5080	PAX6	Uncertain significance	rs1006923180	RCV001104435\|RCV001104436\|RCV001104438\|RCV001104437;	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	31807917	31807917	11:g.31807917T>C	-
NM_019040.5(ELP4):c.*2982G>A	5080	PAX6	Conflicting interpretations of pathogenicity	rs191399467	RCV001104440\|RCV001104439\|RCV001104441\|RCV001104442\|RCV001107188\|RCV001107187;	N	MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MedGen:C0663995\|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,O	11	31808054	31808054	11:g.31808054G>A	-
NM_019040.5(ELP4):c.*2992G>A	5080	PAX6	Uncertain significance	rs1948639449	RCV001107190\|RCV001107191\|RCV001107192\|RCV001107189;	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	31808064	31808064	11:g.31808064G>A	-
NM_019040.5(ELP4):c.3164_3165insAAAA	5080	PAX6	Benign	rs34919147	RCV000270087\|RCV000299243\|RCV000305344\|RCV000358681\|RCV000359957\|RCV000392032\|RCV000392047\|RCV001538955;	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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0007848,Me	11	31808235	31808236	11:g.31808235_31808236insAAAA	ClinGen:CA10634562	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3207T>C	5080	PAX6	Uncertain significance	rs1010978990	RCV001107838\|RCV001107840\|RCV001107839\|RCV001107837;	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	31808279	31808279	11:g.31808279T>C	-
NM_019040.5(ELP4):c.*3208C>T	5080	PAX6	Benign	rs608293	RCV000277532\|RCV000271960\|RCV000325808\|RCV000331769\|RCV000332589\|RCV000366442\|RCV000386337\|RCV001527735;	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:CN239197\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225	11	31808280	31808280	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\|RCV000374742\|RCV000373184\|RCV000392251\|RCV002262957;	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\|MedGen:CN239197\|MONDO:MONDO:0008681,MedGen:C02061	11	31808314	31808314	NC_000011.9:g.31808314G>A	ClinGen:CA10638286	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3303G>A	5080	PAX6	Uncertain significance	rs994285025	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	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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MedGen	11	31808455	31808455	NC_000011.9:g.31808455C>T	ClinGen:CA10638288	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3425C>T	5080	PAX6	Benign/Likely benign	rs3026399	RCV000260635\|RCV000261905\|RCV000315850\|RCV000321786\|RCV000369362\|RCV000375220\|RCV000376471\|RCV001843508;	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	NC_000011.9:g.31808497C>T	ClinGen:CA10638289	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orph	11	31808505	31808505	NC_000011.9:g.31808505G>T	ClinGen:CA10638291	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:1	11	31808576	31808576	NC_000011.9:g.31808576T>C	ClinGen:CA10638900	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3509A>G	5080	PAX6	Benign/Likely benign	rs542906080	RCV000263956\|RCV000267644\|RCV000291853\|RCV000321448\|RCV000325181\|RCV000360034\|RCV000382078\|RCV001612959;	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	NC_000011.9:g.31808581A>G	ClinGen:CA10630731	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.3514_3517dup	5080	PAX6	Benign	rs397795797	RCV000279797\|RCV000295258\|RCV000337230\|RCV000330541\|RCV000352420\|RCV000387389\|RCV000401427\|RCV001672446;	N	MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708\|Human Phenotype Ontology:HP:0000	11	31808585	31808586	NC_000011.9:g.31808586_31808589dup	ClinGen:CA10638901	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3523del	5080	PAX6	Uncertain significance	rs886048188	RCV000270919\|RCV000302597\|RCV000305976\|RCV000363009\|RCV000359771\|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\|MedGen:CN239197\|Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011	11	31808595	31808595	NC_000011.9:g.31808595del	ClinGen:CA10638902	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3588A>G	5080	PAX6	Uncertain significance	rs906435505	RCV001107372\|RCV001107371\|RCV001107373\|RCV001108027;	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	31808660	31808660	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	NC_000011.9:g.31808775_31808777del	ClinGen:CA10630732	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3703G>A	5080	PAX6	Benign	rs3026398	RCV000276213\|RCV000306938\|RCV000311393\|RCV000314986\|RCV000363855\|RCV000368371\|RCV000392121\|RCV001636871;	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	NC_000011.9:g.31808775G>A	ClinGen:CA10638904	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3706T>A	5080	PAX6	Uncertain significance	rs1948715280	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	11:g.31808778T>A	-
NM_019040.5(ELP4):c.*3713A>T	5080	PAX6	Benign/Likely benign	rs138881442	RCV000260907\|RCV000264021\|RCV000318395\|RCV000321546\|RCV000353194\|RCV000378379\|RCV000375323;	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\|Human Phenotype Ontology:HP:0000526,	11	31808785	31808785	NC_000011.9:g.31808785A>T	ClinGen:CA10638293	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3715T>A	5080	PAX6	Uncertain significance	rs558836571	RCV001104733\|RCV001104731\|RCV001104730\|RCV001104732;	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	31808787	31808787	11:g.31808787T>A	-
NM_019040.5(ELP4):c.*3772G>C	5080	PAX6	Uncertain significance	rs865924000	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	11:g.31808844G>C	-
NM_019040.5(ELP4):c.*3851C>T	5080	PAX6	Benign	rs141344418	RCV001105876\|RCV001105875\|RCV001105877\|RCV001105878\|RCV001105879\|RCV001105880;	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:C0663995\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:225	11	31808923	31808923	11:g.31808923C>T	-
NM_019040.5(ELP4):c.*3904G>A	5080	PAX6	Conflicting interpretations of pathogenicity	rs3026397	RCV000262281\|RCV000301027\|RCV000297518\|RCV000351329\|RCV000354753\|RCV000358577\|RCV000393773;	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\|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:25092	11	31808976	31808976	NC_000011.9:g.31808976G>A	ClinGen:CA10638294	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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	NC_000011.9:g.31808992C>T	ClinGen:CA10638304	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,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:CN120488,Orphan	11	31809050	31809050	NC_000011.9:g.31809050T>C	ClinGen:CA10638905	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3994C>A	5080	PAX6	Benign/Likely benign	rs79739975	RCV000265732\|RCV000305849\|RCV000309419\|RCV000360468\|RCV000364054\|RCV000407135\|RCV000407121\|RCV002244776;	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	NC_000011.9:g.31809066C>A	ClinGen:CA10634568	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*3998C>T	5080	PAX6	Benign	rs662702	RCV000262036\|RCV000295981\|RCV000317253\|RCV000320954\|RCV000332508\|RCV000357038\|RCV000371951\|RCV001521376\|RCV001598649;	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	NC_000011.9:g.31809070C>T	ClinGen:CA10634573	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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	NC_000011.9:g.31809089A>G	ClinGen:CA10634576	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4056G>A	5080	PAX6	Uncertain significance	rs1948752515	RCV001108209\|RCV001108206\|RCV001108208\|RCV001108207;	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	31809128	31809128	11:g.31809128G>A	-
NM_019040.5(ELP4):c.*4105C>T	5080	PAX6	Benign	rs73477656	RCV000283877\|RCV000287214\|RCV000298046\|RCV000338811\|RCV000342146\|RCV000378342\|RCV000402026\|RCV001683228;	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	NC_000011.9:g.31809177C>T	ClinGen:CA10634593	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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	NC_000011.9:g.31809244A>C	ClinGen:CA10634594	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0020147,MedGen:CN120488,Orpha	11	31809323	31809323	NC_000011.9:g.31809323G>A	ClinGen:CA10638914	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4323G>T	5080	PAX6	Uncertain significance	rs923696320	RCV001106078\|RCV001106077\|RCV001106079\|RCV001106080;	N	MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|MedGen:C0663995\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253	11	31809395	31809395	11:g.31809395G>T	-
NM_019040.5(ELP4):c.*4441T>C	5080	PAX6	Uncertain significance	rs1452069622	RCV001108310\|RCV001108311\|RCV001108312\|RCV001108309;	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	31809513	31809513	11:g.31809513T>C	-
NM_019040.5(ELP4):c.*4542G>T	5080	PAX6	Uncertain significance	rs1948792866	RCV001108313\|RCV001108315\|RCV001108314\|RCV001108316;	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	31809614	31809614	11:g.31809614G>T	-
NM_019040.5(ELP4):c.*4571A>G	5080	PAX6	Uncertain significance	rs1029065786	RCV001103108\|RCV001103105\|RCV001103106\|RCV001103107;	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	31809643	31809643	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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MONDO:MONDO:0008681,MedGen:C0206115,	11	31809961	31809961	NC_000011.9:g.31809961G>A	ClinGen:CA10630734	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*4974C>T	5080	PAX6	Benign/Likely benign	rs138035131	RCV001106175\|RCV001106176\|RCV001106178\|RCV001106177\|RCV001108390;	N	MONDO: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:CN120488, Orphanet:98555	11	31810046	31810046	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,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:CN120488, Orphanet:98555\|MedGen:	11	31810088	31810088	NC_000011.9:g.31810088T>G	ClinGen:CA10630735	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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	NC_000011.9:g.31810195T>A	ClinGen:CA10630736	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*5226T>A	5080	PAX6	Benign	rs1506	RCV000286998\|RCV000280988\|RCV000298746\|RCV000338402\|RCV000339784\|RCV000398435\|RCV000399005\|RCV001642941;	N	MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MedGen:C0663995\|MedGen:CN239197\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148	11	31810298	31810298	NC_000011.9:g.31810298T>A	ClinGen:CA10630739	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_019040.5(ELP4):c.*5357A>G	5080	PAX6	Uncertain significance	rs886048197	RCV000264439\|RCV000270395\|RCV000281996\|RCV000321837\|RCV000322584\|RCV000374150\|RCV000379592;	N	MedGen:C0663995\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|Human 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,Orpha	11	31810429	31810429	NC_000011.9:g.31810429A>G	ClinGen:CA10634597	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
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,MONDO:MONDO:0019172,MedGen	11	31810543	31810543	NC_000011.9:g.31810543T>C	ClinGen:CA10634599	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*842G>A	5080	PAX6	Benign/Likely benign	rs115045926	RCV001103303\|RCV001103304\|RCV001103305\|RCV001103306\|RCV001103307\|RCV001103308\|RCV002282456;	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	11:g.31810640C>T	-
NM_001368894.2(PAX6):c.*841C>T	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	11:g.31810641G>A	ClinGen:CA10638915	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*626G>C	5080	PAX6	Uncertain significance	rs1250874661	RCV001105214\|RCV001105215\|RCV001105216\|RCV001105213;	N	MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MedGen:C0663995\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555	11	31810856	31810856	11:g.31810856C>G	-
NM_001368894.2(PAX6):c.*357A>T	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	11:g.31811125T>A	ClinGen:CA10638924	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*356T>A	5080	PAX6	Uncertain significance	rs774392481	RCV000282065\|RCV000283296\|RCV000313631\|RCV000340604\|RCV000334653\|RCV000397731\|RCV000399607;	N	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, Orphanet:2253\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|MedGen	11	31811126	31811126	11:g.31811126A>T	ClinGen:CA10634600	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*272T>G	5080	PAX6	Uncertain significance	rs934715799	RCV001103392\|RCV001103390\|RCV001103391\|RCV001103393;	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	31811210	31811210	11:g.31811210A>C	-
NM_001368894.2(PAX6):c.*247T>A	5080	PAX6	Uncertain significance	rs1468270124	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	11:g.31811235A>T	-
NM_001368894.2(PAX6):c.*226T>C	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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MedGen:CN239197\|MONDO:MONDO:0020147,MedGen:CN120488,Orpha	11	31811256	31811256	11:g.31811256A>G	ClinGen:CA10638307	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*207G>A	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,MONDO:MONDO:0019172,MedGen:	11	31811275	31811275	11:g.31811275C>T	ClinGen:CA10634610	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*183dup	5080	PAX6	Uncertain significance	rs886048200	RCV000259852\|RCV000268454\|RCV000304643\|RCV000303579\|RCV000354831\|RCV000358490\|RCV000401821;	N	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:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708\|MedGen:CN239197\|Human Phenotype O	11	31811298	31811299	11:g.31811298_31811299insT	ClinGen:CA10634612	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.*90A>C	5080	PAX6	Uncertain significance	rs572377074	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	11:g.31811392T>G	-
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)	5080	PAX6	Uncertain significance	rs75572362	RCV001103476\|RCV001103478\|RCV001103477\|RCV001103479;	N	MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|MedGen:C0663995\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253	11	31815068	31815068	11:g.31815068C>T	-
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)	5080	PAX6	Conflicting interpretations of pathogenicity	rs373147550	RCV000761769\|RCV001103480\|RCV001103481\|RCV001103482\|RCV001103483\|RCV002061032;	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\|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:10621	11	31815075	31815075	NC_000011.9:g.31815075A>G	-
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)	5080	PAX6	Conflicting interpretations of pathogenicity	rs779631884	RCV001105399\|RCV001105401\|RCV001105398\|RCV001105400\|RCV001105397;	N	MedGen:C0663995\|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\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555	11	31815088	31815088	11:g.31815088T>A	-
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)	5080	PAX6	Conflicting interpretations of pathogenicity	rs202154006	RCV001105402\|RCV001105403\|RCV001105404\|RCV001106542\|RCV001106540\|RCV001106541\|RCV002067781;	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\|MedGen:C0663995\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|M	11	31815249	31815249	11:g.31815249A>G	-
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)	5080	PAX6	Uncertain significance	rs1592415376	RCV001106544\|RCV001106543\|RCV001106545\|RCV001106546;	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	31815273	31815273	11:g.31815273T>C	-
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)	5080	PAX6	Conflicting interpretations of pathogenicity	rs149053004	RCV000263284\|RCV000273738\|RCV000298558\|RCV000299533\|RCV000333506\|RCV000353328\|RCV000368216\|RCV000865074\|RCV001683229;	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	NC_000011.9:g.31815285C>T	ClinGen:CA5933788	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.808-12C>T	5080	PAX6	Conflicting interpretations of pathogenicity	rs667773	RCV000248742\|RCV000269341\|RCV000284718\|RCV000339789\|RCV000329038\|RCV000380248\|RCV000383559\|RCV000382578\|RCV001512870\|RCV001683027\|RCV002226702;	N	MedGen:CN169374\|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	31815362	31815362	11:g.31815362G>A	ClinGen:CA5933790	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.753G>A (p.Val251=)	5080	PAX6	Conflicting interpretations of pathogenicity	rs145329506	RCV000285944\|RCV000301339\|RCV000310966\|RCV000336368\|RCV000337620\|RCV000394809\|RCV000398566\|RCV001514487\|RCV001566375;	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	NC_000011.9:g.31815634C>T	ClinGen:CA5933808	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)	5080	PAX6	Uncertain significance	rs373715028	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	11:g.31816212G>A	-
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)	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,MONDO:MONDO:0019172,MedGen:C0003076\|MedGen:C0663995\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MONDO:MONDO:0007848,MedGen	11	31816313	31816313	NC_000011.9:g.31816313C>G	ClinGen:CA10638933	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)	5080	PAX6	Uncertain significance	rs1159095794	RCV001106651\|RCV001106648\|RCV001106649\|RCV001106650;	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	31822244	31822244	11:g.31822244G>A	-
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)	5080	PAX6	Uncertain significance	rs1953501315	RCV001106652\|RCV001106654\|RCV001106653\|RCV001108805;	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	31822293	31822293	11:g.31822293C>T	-
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)	5080	PAX6	Uncertain significance	rs371018133	RCV001108806\|RCV001108808\|RCV001108807\|RCV001108809;	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	31822351	31822351	11:g.31822351C>T	-
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)	5080	PAX6	Pathogenic	rs121907918	RCV000003635\|RCV000984410\|RCV001851621;	N	MONDO: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:C03	11	31822380	31822380	11:g.31822380G>A	ClinGen:CA116221,UniProtKB:P26367#VAR_003814,OMIM:607108.0012	C3805604 136520 Foveal hypoplasia and presenile cataract syndrome;
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)	5080	PAX6	Benign/Likely benign	rs114384476	RCV000264876\|RCV000281025\|RCV000279921\|RCV000316268\|RCV000324755\|RCV000375488\|RCV000379317\|RCV000525722\|RCV000440184\|RCV001795924;	N	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\|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190, Orphanet:2334\|MOND	11	31823139	31823139	NC_000011.9:g.31823139C>T	ClinGen:CA5933917	C0344542 106210 Aniridia 1;
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)	5080	PAX6	Conflicting interpretations of pathogenicity	rs769095184	RCV001103655\|RCV001103656\|RCV001103657\|RCV001103658\|RCV001103659\|RCV001104915\|RCV001856403;	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	11:g.31823191C>T	-
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)	5080	PAX6	Likely pathogenic	rs759557055	RCV000984386;	N	MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253	11	31823252	31823252	11:g.31823252C>G	-
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)	5080	PAX6	Uncertain significance	rs1953969921	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	11:g.31823289C>T	-
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)	5080	PAX6	Pathogenic/Likely pathogenic	rs397514640	RCV000789036\|RCV001249825\|RCV001281650;	N	MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210, Orphanet:250923\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|MedGen:CN517202	11	31824281	31824281	11:g.31824281G>C	-
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)	5080	PAX6	Uncertain significance	rs1954524676	RCV001106746\|RCV001106745\|RCV001106747\|RCV001106748;	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	31824312	31824312	11:g.31824312C>T	-
NM_001368894.2(PAX6):c.10+5G>C	5080	PAX6	Pathogenic	rs587776572	RCV000003648;	N	MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253	11	31827945	31827945	NC_000011.9:g.31827945C>G	ClinGen:CA116247,OMIM:607108.0021	C3805604 136520 Foveal hypoplasia and presenile cataract syndrome;
NM_001368894.2(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	NC_000011.9:g.31828404C>A	ClinGen:CA10634613	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-107C>T	5080	PAX6	Conflicting interpretations of pathogenicity	rs111270711	RCV000289037\|RCV000292422\|RCV000318475\|RCV000333413\|RCV000344279\|RCV000387982\|RCV000386945;	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:0007848,MedGen:C1835698,OMIM:148190	11	31828452	31828452	NC_000011.9:g.31828452G>A	ClinGen:CA10638310	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-129+9G>A	5080	PAX6	Benign/Likely benign	rs56139994	RCV000202974\|RCV000290390\|RCV000305825\|RCV000340726\|RCV000342099\|RCV000395429\|RCV000395452\|RCV000401317\|RCV001521912\|RCV001610522;	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,MONDO:MONDO:0019172,MedGen:C0003076\|MONDO:MONDO:0020147,Med	11	31832367	31832367	NC_000011.9:g.31832367C>T	ClinGen:CA249178	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(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,MONDO:MONDO:0019172,MedGen:C0003076\|MedGen:CN239197\|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520, Orphanet:2253\|Human Phenotype Ontology:HP:0000528,Human	11	31832392	31832393	NC_000011.9:g.31832394_31832395dup	ClinGen:CA10634617	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(PAX6):c.-167G>T	5080	PAX6	Uncertain significance	rs1956928845	RCV001103751\|RCV001103753\|RCV001103752\|RCV001103754;	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	31832414	31832414	11:g.31832414C>A	-
NM_001368894.2(PAX6):c.-368G>A	5080	PAX6	Conflicting interpretations of pathogenicity	rs886048206	RCV000269479\|RCV000272429\|RCV000308255\|RCV000320445\|RCV000364742\|RCV000370938\|RCV000377350\|RCV001560157;	N	Human 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:2	11	31832714	31832714	NC_000011.9:g.31832714C>T	ClinGen:CA10634632	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;
NM_001368894.2(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	NC_000011.9:g.31832853A>G	ClinGen:CA10638311	CN239197 Aniridia, Cerebellar Ataxia, And Intellectual Disability;

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