|
Term ID: | 8018 |
Name: | MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:C562829|MESH:C563255|MESH:D004479 |
TreeNumbers: | C11.204/C563255/251750 |C11.250.300/251750 |C11.250.300/C563255/251750 |C11.270/C562829/251750 |C11.510.598.373/251750 |C11.510.598.373/C563255/251750 |C11.525.381/C563255/251750 |C16.131.384.405/251750 |C16.131.384.405/C563255/251750 |C16.320.290/C562829/251750 | |
Synonyms: | MSPKA |
Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: 251750
MeSH: 251750
OMIM: 251750; MSeqDR : Genes: LTBP2; PNPLA2; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000428.3(LTBP2):c.*10dup | 4053 | LTBP2 | Uncertain significance | rs546442756 | RCV000369662|RCV000394332|RCV002502229; | N | MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|Human Phenotype Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orpha | 14 | 74967576 | 74967577 | | | 14:g.74967576_74967577insC | ClinGen:CA7268389 | C1533041 Primary congenital glaucoma; | | NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001966384|RCV002484845; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 74967636 | 74967636 | | | 74967636 | - | | | NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001979961|RCV002507673; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 74969584 | 74969584 | | | 74969584 | - | | | NM_000428.3(LTBP2):c.4888+18G>A | 4053 | LTBP2 | Benign | -1 | RCV002127490|RCV002494301; | N | MedGen:CN517202|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, | 14 | 74969904 | 74969904 | | | 74969904 | - | | | NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001878499|RCV002503395; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 74969933 | 74969933 | | | 74969933 | - | | | NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile) | 4053 | LTBP2 | Uncertain significance | -1 | RCV002022713|RCV002479740; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O | 14 | 74970038 | 74970038 | | | 74970038 | - | | | NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001886292|RCV002482631; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 74970272 | 74970272 | | | 74970272 | - | | | NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) | 4053 | LTBP2 | Uncertain significance | -1 | RCV002022312|RCV002479653; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 74970698 | 74970698 | | | 74970698 | - | | | NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) | 4053 | LTBP2 | Uncertain significance | rs150484024 | RCV000304849|RCV000361845|RCV001850659|RCV002494984; | N | MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MedGen:CN517202|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:61481 | 14 | 74971770 | 74971770 | | | NC_000014.8:g.74971770G>A | ClinGen:CA7268800 | C1533041 Primary congenital glaucoma; | | NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg) | 4053 | LTBP2 | Uncertain significance | -1 | RCV002026497|RCV002507807; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O | 14 | 74971809 | 74971809 | | | 74971809 | - | | | NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) | 4053 | LTBP2 | Uncertain significance | rs201430837 | RCV001120861|RCV001120862|RCV002482223; | N | MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976 | 14 | 74976028 | 74976028 | | | 14:g.74976028C>T | - | | | NM_000428.3(LTBP2):c.2788+14G>A | 4053 | LTBP2 | Uncertain significance | rs753628301 | RCV000268816|RCV000365669|RCV002494985; | N | MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; | 14 | 74988600 | 74988600 | | | NC_000014.8:g.74988600C>T | ClinGen:CA7269387 | C1533041 Primary congenital glaucoma; | | NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001945915|RCV002503640; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 74988644 | 74988644 | | | 74988644 | - | | | NM_000428.3(LTBP2):c.2389-2A>G | 4053 | LTBP2 | Likely pathogenic | -1 | RCV002038288|RCV002507788; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O | 14 | 74992819 | 74992819 | | | 74992819 | - | | | NM_000428.3(LTBP2):c.2388+8C>T | 4053 | LTBP2 | Uncertain significance | rs201838800 | RCV001119094|RCV001119095|RCV002505694; | N | MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976 | 14 | 74994042 | 74994042 | | | 14:g.74994042G>A | - | | | NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001772598|RCV002506768; | N | MedGen:CN517202|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, | 14 | 75017966 | 75017966 | | | 75017966 | - | | | NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) | 4053 | LTBP2 | Uncertain significance | rs371940681 | RCV000305545|RCV000341687|RCV002504081; | N | MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; | 14 | 75018988 | 75018988 | | | NC_000014.8:g.75018988G>A | ClinGen:CA7269924 | C1533041 Primary congenital glaucoma; | | NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu) | 4053 | LTBP2 | Uncertain significance | -1 | RCV002011585|RCV002492361; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,O | 14 | 75022277 | 75022277 | | | 75022277 | - | | | NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) | 4053 | LTBP2 | Benign | rs143106228 | RCV000906608|RCV002502704; | N | MedGen:CN517202|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, | 14 | 75052602 | 75052602 | | | 14:g.75052602G>A | - | | | NM_000428.3(LTBP2):c.654C>T (p.Cys218=) | 4053 | LTBP2 | Uncertain significance | -1 | RCV001866526|RCV002489959; | N | MedGen:CN517202|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975, Orphanet:98976; MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819 | 14 | 75052733 | 75052733 | | | 75052733 | - | | | NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) | 4053 | LTBP2 | Uncertain significance | rs374099324 | RCV001117817|RCV001117818|RCV001856547|RCV002505692; | N | MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MedGen:CN517202|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0010968,MedGen:C1832977,OMIM:60097 | 14 | 75052800 | 75052800 | | | 14:g.75052800T>C | - | | | NM_000428.3(LTBP2):c.-93C>T | 4053 | LTBP2 | Uncertain significance | rs769936231 | RCV000267683|RCV000357706|RCV002487389; | N | MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750, Orphanet:238763; MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819, Orphanet:3449; | 14 | 75078740 | 75078740 | | | NC_000014.8:g.75078740G>A | ClinGen:CA10646101 | C1533041 Primary congenital glaucoma; | |
| MSeqDR Portal | |
|