MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:6844
Name:LEBER CONGENITAL AMAUROSIS 15
Definition:
Alternative IDs:DO:DOID:0110189
ParentIDs:MESH:D057130
TreeNumbers:C11.270.516/613843 |C11.768.364/613843
Synonyms:LCA15 |RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED, INCLUDED
Slim Mappings:Eye disease
Reference: MedGen: 613843
MeSH: 613843
OMIM: 613843;
MSeqDR LSDB:  
Genes: TULP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000551Abnormality of color vision
3 HP:0006934Congenital nystagmus
4 HP:0001133Constriction of peripheral visual field
5 HP:0000540HypermetropiaHP:0040283
6 HP:0007772Impaired smooth pursuit
7 HP:0000545Myopia
8 HP:0000662Nyctalopia
9 HP:0000543Optic disc pallor
10 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
11 HP:0000546Retinal degeneration
12 HP:0000510Rod-cone dystrophy
13 HP:0030211Slow pupillary light response
14 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003322.6(TULP1):c.*318T>G7287TULP1Benignrs1051952RCV000272836|RCV000366043; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546578635465786AC6:g.35465786A>CClinGen:CA10626680C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.*305G>A7287TULP1Uncertain significancers149035389RCV000327883|RCV000377808; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163546579935465799CT6:g.35465799C>TClinGen:CA10621956C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.*278C>T7287TULP1Uncertain significancers886061335RCV000264447|RCV000324295; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546582635465826GA6:g.35465826G>AClinGen:CA10623707C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.*272C>G7287TULP1Uncertain significancers1231614922RCV001153578|RCV001153579; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546583235465832GC6:g.35465832G>C-
NM_003322.6(TULP1):c.*268C>A7287TULP1Benignrs114707578RCV000334624|RCV000375184; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163546583635465836GT6:g.35465836G>TClinGen:CA10623709C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.*31C>T7287TULP1Uncertain significancers886061336RCV000280778|RCV000349840; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546607335466073GA6:g.35466073G>AClinGen:CA10626537C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu)7287TULP1Uncertain significancers1768748235RCV001255930|RCV001879946; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263546612135466121TC6:g.35466121T>C-
NM_003322.6(TULP1):c.1569C>T (p.Cys523=)7287TULP1Conflicting interpretations of pathogenicityrs768536269RCV001153580|RCV001153581|RCV002070872; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263546616435466164GA6:g.35466164G>A-
NM_003322.6(TULP1):c.1563G>A (p.Pro521=)7287TULP1Conflicting interpretations of pathogenicityrs1031077618RCV001156196|RCV001156195|RCV001458705; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263546617035466170CT6:g.35466170C>T-
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys)7287TULP1Likely pathogenicrs751036771RCV001255929; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546621135466211GA6:g.35466211G>A-
NM_003322.6(TULP1):c.1495+3G>A7287TULP1Uncertain significancers758668547RCV001156198|RCV001156197; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546775535467755CT6:g.35467755C>T-
NM_003322.6(TULP1):c.1495+1G>A7287TULP1Pathogenicrs281865168RCV000086071|RCV000454250|RCV000454167|RCV001075035|RCV001257785; NMedGen:CN517202|MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Ph63546775735467757CT6:g.35467757C>TClinGen:CA227708,OMIM:602280.0005C3151206 613843 Leber congenital amaurosis 15;
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)7287TULP1Conflicting interpretations of pathogenicityrs141980901RCV000086070|RCV000591717|RCV001156199|RCV001156200; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546776735467767CT6:g.35467767C>TClinGen:CA227706,UniProtKB:O00294#VAR_008281CN517202 not provided;
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)7287TULP1Pathogenicrs146311742RCV001255931|RCV001386008|RCV001810007; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN517202|MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132, Orphanet:79163546780835467808CT6:g.35467808C>T-
NM_003322.6(TULP1):c.1362G>A (p.Thr454=)7287TULP1Benign/Likely benignrs41270076RCV000086067|RCV000314490|RCV000397322; NMedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563546789135467891CT6:g.35467891C>TClinGen:CA227701C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys)7287TULP1Likely pathogenicrs551519696RCV001196225; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547140135471401GA6:g.35471401G>A-
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)7287TULP1Pathogenicrs387906835RCV000023187; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547153435471534CA6:g.35471534C>AClinGen:CA259772,OMIM:602280.0010C3151206 613843 Leber congenital amaurosis 15;
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys)7287TULP1Likely pathogenicrs387906835RCV001255928; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547153435471534CT6:g.35471534C>T-
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)7287TULP1Pathogenicrs748972748RCV001057548|RCV001255927; NMedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547153935471539CT6:g.35471539C>T-
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)7287TULP1Pathogenicrs387906836RCV000023188|RCV000852373; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0001156,Human Phenotype Ontology:HP:0001189,Human Phenotype Ontology:HP:0001201,Human Phenotype Ontology:HP:0005630,Human Phenotype Ontology:HP:0005657,Human Phenoty63547154035471540GA6:g.35471540G>AClinGen:CA259774,UniProtKB:O00294#VAR_065501,OMIM:602280.0011C3151206 613843 Leber congenital amaurosis 15;
NM_003322.6(TULP1):c.1169G>A (p.Arg390His)7287TULP1Uncertain significancers139402633RCV001157866|RCV001157867|RCV001349738; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN51720263547156935471569CT6:g.35471569C>T-
NM_003322.6(TULP1):c.1152C>T (p.Asn384=)7287TULP1Conflicting interpretations of pathogenicityrs371436525RCV001157868|RCV001157869|RCV002070946; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547158635471586GA6:g.35471586G>A-
NM_003322.6(TULP1):c.1112+8T>C7287TULP1Uncertain significancers1286919081RCV001157871|RCV001157870; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163547351035473510AG6:g.35473510A>G-
NM_003322.6(TULP1):c.1112+2T>G7287TULP1Pathogenicrs1761066725RCV001198770; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547351635473516AC6:g.35473516A>C-
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)7287TULP1Likely pathogenicrs387906837RCV000023189|RCV001857359; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547352835473528CA6:g.35473528C>AClinGen:CA259775,UniProtKB:O00294#VAR_065500,OMIM:602280.0012C3151206 613843 Leber congenital amaurosis 15;
NM_003322.6(TULP1):c.1081del (p.Arg361fs)7287TULP1Pathogenicrs1761067640RCV001255926; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547354935473549CGC6:g.35473549_35473549del-
NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln)7287TULP1Uncertain significancers756856544RCV001196226|RCV001360262; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547360535473605CT6:g.35473605C>T-
NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)7287TULP1Pathogenic/Likely pathogenicrs767030473RCV000519299|RCV001591182; NMedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547360635473606GANC_000006.11:g.35473606G>AClinGen:CA363779845
NM_003322.6(TULP1):c.999+5G>A7287TULP1Uncertain significance-1RCV002052173; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547377535473775CT35473775-
NM_003322.6(TULP1):c.904G>A (p.Gly302Ser)7287TULP1Uncertain significancers765321084RCV001157872|RCV001157873|RCV001370920; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN51720263547387535473875CT6:g.35473875C>T-
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)7287TULP1Pathogenicrs201070350RCV001028029|RCV001054314|RCV001251337|RCV001257786|RCV001255925|RCV001814258; NMONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132, Orphanet:791|MedGen:CN517202|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:65|MedGen:C0339526|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:63547387835473878GA6:g.35473878G>A-
NM_003322.6(TULP1):c.901C>G (p.Gln301Glu)7287TULP1Uncertain significancers201070350RCV001152397|RCV001300974; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547387835473878GC6:g.35473878G>C-
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln)7287TULP1Uncertain significancers140460892RCV000306445|RCV000365828|RCV001227879; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547390435473904CT6:g.35473904C>TClinGen:CA3772753C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.846G>A (p.Pro282=)7287TULP1Conflicting interpretations of pathogenicityrs149980694RCV000271258|RCV000274503|RCV000302940; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547393335473933CT6:g.35473933C>TClinGen:CA3772766C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.823-4A>G7287TULP1Conflicting interpretations of pathogenicityrs200264819RCV000945772|RCV001000630|RCV001152398|RCV001152399; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547406035474060TC6:g.35474060T>C-
NM_003322.6(TULP1):c.823-8G>A7287TULP1Conflicting interpretations of pathogenicityrs372183095RCV000267212|RCV000361884|RCV001454626; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN51720263547406435474064CT6:g.35474064C>TClinGen:CA3772786C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.797G>T (p.Gly266Val)7287TULP1Uncertain significancers150480343RCV000723697|RCV001153677|RCV001153678; NMedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163547701135477011CANC_000006.11:g.35477011C>AClinGen:CA221974
NM_003322.6(TULP1):c.794del (p.Lys265fs)7287TULP1Pathogenicrs1581742615RCV001029926; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547701435477014CTC6:g.35477014_35477014del-
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)7287TULP1Pathogenic-1RCV002210942; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65; MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:6563547701835477018GA35477018-
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)7287TULP1Benignrs2064318RCV000080090|RCV000317728|RCV000353881|RCV000987689|RCV001511181; NMedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orpha63547702535477025CG6:g.35477025C>GClinGen:CA147645,UniProtKB:O00294#VAR_034575C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)7287TULP1Benignrs2064317RCV000086077|RCV000180234|RCV000263443|RCV000318574|RCV000987690; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008764,MedGen:C2931258,O63547703235477032AG6:g.35477032A>GClinGen:CA203606,UniProtKB:O00294#VAR_008276C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.771G>A (p.Thr257=)7287TULP1Conflicting interpretations of pathogenicityrs189081258RCV000952659|RCV001156275|RCV001156276; NMedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163547703735477037CT6:g.35477037C>T-
NM_003322.6(TULP1):c.719G>A (p.Gly240Asp)7287TULP1Uncertain significancers773120841RCV001156277|RCV001156278|RCV002032441; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547708935477089CT6:g.35477089C>T-
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys)7287TULP1Uncertain significancers1469121973RCV001156280|RCV001156279; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547744735477447CT6:g.35477447C>T-
NM_003322.6(TULP1):c.647C>T (p.Ala216Val)7287TULP1Uncertain significancers754221623RCV001156281|RCV001157948|RCV001365992; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN51720263547748235477482GA6:g.35477482G>A-
NM_003322.6(TULP1):c.603G>A (p.Gly201=)7287TULP1Conflicting interpretations of pathogenicityrs117920214RCV000960806|RCV001157949|RCV001157950; NMedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547752635477526CT6:g.35477526C>T-
NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)7287TULP1Pathogenicrs1761161294RCV001268710|RCV001729832; NMedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547763735477637CA6:g.35477637C>A-
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser)7287TULP1Uncertain significancers748334290RCV000292767|RCV000387066; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547764635477646GA6:g.35477646G>AClinGen:CA3772879C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)7287TULP1Conflicting interpretations of pathogenicityrs142641513RCV000334230|RCV000388773|RCV000878438; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547766135477661TC6:g.35477661T>CClinGen:CA3772881C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.541G>C (p.Val181Leu)7287TULP1Uncertain significancers576738703RCV001152496|RCV001157951|RCV001858997; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN51720263547766435477664CG6:g.35477664C>G-
NM_003322.6(TULP1):c.499+12G>C7287TULP1Conflicting interpretations of pathogenicityrs185636479RCV000289767|RCV000344699|RCV001516160; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN51720263547862635478626CG6:g.35478626C>GClinGen:CA3772909C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser)7287TULP1Uncertain significancers749882966RCV000290733|RCV000396452; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547866035478660CG6:g.35478660C>GClinGen:CA3772913C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.457G>A (p.Ala153Thr)7287TULP1Uncertain significancers145351282RCV001334130|RCV001871856; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547868035478680CT35478680-
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg)7287TULP1Uncertain significancers145518705RCV001047048|RCV001152498|RCV001152497; NMedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547947835479478TC6:g.35479478T>C-
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg)7287TULP1Uncertain significancers754040672RCV000341031|RCV000400311; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163547952035479520TCNC_000006.11:g.35479520T>CClinGen:CA3772979C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.249G>A (p.Ala83=)7287TULP1Conflicting interpretations of pathogenicityrs377105125RCV000305203|RCV000359869|RCV000945530; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547952535479525CTNC_000006.11:g.35479525C>TClinGen:CA3772980C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe)7287TULP1Uncertain significancers1244588827RCV001153770|RCV001153771; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547955035479550GA6:g.35479550G>A-
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg)7287TULP1Benignrs7764472RCV000296887|RCV000332978|RCV000398291|RCV001511182; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MedGen:CN51720263547957435479574GC6:g.35479574G>CClinGen:CA3772990,UniProtKB:O00294#VAR_008274C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.192T>C (p.Ala64=)7287TULP1Uncertain significancers886061337RCV000261706|RCV000356598; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163547958235479582AGNC_000006.11:g.35479582A>GClinGen:CA10623721C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser)7287TULP1Uncertain significancers781650198RCV000177171|RCV001156390|RCV001156391; NMedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547996335479963GA6:g.35479963G>AClinGen:CA243286CN169374 not specified;
NM_003322.6(TULP1):c.148del (p.Glu50fs)7287TULP1Pathogenicrs779910894RCV001255924; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563547999935479999TCT6:g.35479999_35479999del-
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter)7287TULP1Likely pathogenicrs1761224205RCV001199360; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563548000835480008CA6:g.35480008C>A-
NM_003322.6(TULP1):c.99+1G>A7287TULP1Likely pathogenicrs281865166RCV000086081|RCV001255922|RCV001376338; NMedGen:CN517202|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|MONDO:MONDO:0010827,MedGen:C1838603,OMIM:600132, Orphanet:79163548041535480415CT6:g.35480415C>TClinGen:CA227719,OMIM:602280.0004CN517202 not provided;
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp)7287TULP1Uncertain significancers148838796RCV000331046|RCV000366989; NMONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:65|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:79163548043035480430GANC_000006.11:g.35480430G>AClinGen:CA3773035C0339527 Leber congenital amaurosis;
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln)7287TULP1Uncertain significancers886061338RCV000277173|RCV000332253; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843, Orphanet:6563548061035480610CTNC_000006.11:g.35480610C>TClinGen:CA10623722C0339527 Leber congenital amaurosis;
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