Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp) | 8120 | AP3B2 | Uncertain significance | 188892600 | RCV001333280|RCV001859309; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C3661900 | 15 | 83328325 | 83328325 | | | 83328325 | - | | |
NM_001278512.2(AP3B2):c.3155+10C>T | 8120 | AP3B2 | Benign/Likely benign | 113056981 | RCV000954746|RCV002502965; | N | MedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83328587 | 83328587 | | | 15:g.83328587G>A | - | | |
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) | 8120 | AP3B2 | Conflicting interpretations of pathogenicity | 147455569 | RCV000968311|RCV001329941; | N | MedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83328609 | 83328609 | | | 15:g.83328609G>T | - | | |
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) | 8120 | AP3B2 | Pathogenic/Likely pathogenic | 1347618037 | RCV001268750|RCV001376173; | N | MedGen:CN517202|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83330614 | 83330615 | | | 15:g.83330614_83330615del | - | | |
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln) | 8120 | AP3B2 | Uncertain significance | 572047686 | RCV001420660|RCV002554095; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C3661900 | 15 | 83330663 | 83330663 | | | 83330663 | - | | |
NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter) | 8120 | AP3B2 | Pathogenic | -1 | RCV003132032; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83330664 | 83330664 | | | NC_000015.9:g.83330664G>A | - | | |
NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu) | 8120 | AP3B2 | Uncertain significance | 757342482 | RCV001336722|RCV001871893; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:CN517202 | 15 | 83331600 | 83331600 | | | 83331600 | - | | |
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) | 8120 | AP3B2 | Conflicting interpretations of pathogenicity | 529642370 | RCV001336721|RCV002070213; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C3661900 | 15 | 83331646 | 83331646 | | | 83331646 | - | | |
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser) | 8120 | AP3B2 | Uncertain significance | 2151427966 | RCV001839386; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83331884 | 83331884 | | | 83331884 | - | | |
NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs) | 8120 | AP3B2 | Pathogenic | 1057519271 | RCV000415561; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83331901 | 83331904 | | | 15:g.83331901_83331904del | ClinGen:CA16043938,OMIM:602166.0004 | C4310637 617276 Epileptic encephalopathy, early infantile, 48; | |
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs) | 8120 | AP3B2 | Pathogenic/Likely pathogenic | -1 | RCV002866983|RCV003152804; | N | MedGen:CN517202|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83334221 | 83334222 | | | NC_000015.9:g.83334221CA[1] | - | | |
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) | 8120 | AP3B2 | Pathogenic | 1057519272 | RCV000415523; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83335514 | 83335514 | | | 15:g.83335514_83335514del | ClinGen:CA16043939,OMIM:602166.0006 | C4310637 617276 Epileptic encephalopathy, early infantile, 48; | |
NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=) | 8120 | AP3B2 | Conflicting interpretations of pathogenicity | 776921804 | RCV001941447|RCV003136351; | N | MedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83335584 | 83335584 | | | 83335584 | - | | |
NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter) | 8120 | AP3B2 | Likely pathogenic | -1 | RCV003132975; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83335601 | 83335601 | | | NC_000015.9:g.83335601G>A | - | | |
NM_001278512.2(AP3B2):c.1489-245_1665+2029del | 8120 | AP3B2 | Pathogenic | -1 | RCV000415518; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83343184 | 83345634 | | | 15:g.83343184_83343282del | ClinGen:CA16043937,OMIM:602166.0003 | C4310637 617276 Epileptic encephalopathy, early infantile, 48; | |
NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro) | 8120 | AP3B2 | Uncertain significance | 775126490 | RCV001336720|RCV002546792; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:CN517202 | 15 | 83345242 | 83345242 | | | 83345242 | - | | |
NM_001278512.2(AP3B2):c.1379-6C>G | 8120 | AP3B2 | Conflicting interpretations of pathogenicity | 1030446693 | RCV002227685|RCV003120843; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C3661900 | 15 | 83346141 | 83346141 | | | 83346141 | - | | |
NM_001278512.2(AP3B2):c.1183-19T>G | 8120 | AP3B2 | Conflicting interpretations of pathogenicity | 377729111 | RCV001336719|RCV002070212; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:CN517202 | 15 | 83346938 | 83346938 | | | 83346938 | - | | |
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) | 8120 | AP3B2 | Pathogenic/Likely pathogenic | 1057519269 | RCV000415544|RCV000824906; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|Human Phenotype Ontology:HP:0200134,MedGen:C0543888 | 15 | 83348481 | 83348481 | | | NC_000015.9:g.83348481C>T | ClinGen:CA16043935,OMIM:602166.0001 | C4310637 617276 Epileptic encephalopathy, early infantile, 48; | |
NM_001278512.2(AP3B2):c.1110+5G>A | 8120 | AP3B2 | Uncertain significance | -1 | RCV003142483; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83348922 | 83348922 | | | NC_000015.9:g.83348922C>T | - | | |
NM_001278512.2(AP3B2):c.1110+3G>C | 8120 | AP3B2 | Uncertain significance | -1 | RCV002893841|RCV003152805; | N | MedGen:CN517202|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83348924 | 83348924 | | | NC_000015.9:g.83348924C>G | - | | |
NM_001278512.2(AP3B2):c.1110+1G>C | 8120 | AP3B2 | Likely pathogenic | 1057519270 | RCV000415589|RCV000824907; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|Human Phenotype Ontology:HP:0200134,MedGen:C0543888 | 15 | 83348926 | 83348926 | | | NC_000015.9:g.83348926C>G | ClinGen:CA16043936,OMIM:602166.0002 | C4310637 617276 Epileptic encephalopathy, early infantile, 48; | |
NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter) | 8120 | AP3B2 | Pathogenic | 1215589381 | RCV001333281; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83349339 | 83349339 | | | 83349339 | - | | |
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) | 8120 | AP3B2 | Uncertain significance | 200983489 | RCV000995407|RCV001270044|RCV003141915; | N | MedGen:C3661900|10 conditions|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83349398 | 83349398 | | | 15:g.83349398T>G | - | | |
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) | 8120 | AP3B2 | Likely pathogenic | 1481189891 | RCV000984513; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83349685 | 83349686 | | | 15:g.83349685_83349686del | - | | |
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs) | 8120 | AP3B2 | Pathogenic | -1 | RCV003324120; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83349719 | 83349719 | | | | - | | |
NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter) | 8120 | AP3B2 | Likely pathogenic | 2151441655 | RCV001785950; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83350239 | 83350239 | | | 83350239 | - | | |
NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs) | 8120 | AP3B2 | Pathogenic | 1369308468 | RCV001678595|RCV001859434; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276|MedGen:C3661900 | 15 | 83350245 | 83350248 | | | 83350244 | - | | |
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) | 8120 | AP3B2 | Likely pathogenic | 1596183293 | RCV000989366; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83350299 | 83350301 | | | 15:g.83350299_83350301del | - | | |
NM_001278512.2(AP3B2):c.360+7G>A | 8120 | AP3B2 | Uncertain significance | 1469176151 | RCV001591658; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83357481 | 83357481 | | | 83357481 | - | | |
NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter) | 8120 | AP3B2 | Pathogenic | 775024756 | RCV000415580; | N | MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83357975 | 83357975 | | | 15:g.83357975G>A | ClinGen:CA7700563,OMIM:602166.0005 | C4310637 617276 Epileptic encephalopathy, early infantile, 48; | |
NM_001278512.2(AP3B2):c.93C>T (p.Ile31=) | 8120 | AP3B2 | Benign/Likely benign | 200226421 | RCV002132492|RCV002500043; | N | MedGen:C3661900|MONDO:MONDO:0015000,MedGen:C4310637,OMIM:617276 | 15 | 83378366 | 83378366 | | | 83378366 | - | | |