Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) | 10084 | PQBP1 | Pathogenic | 121917899 | RCV000011732; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242 | X | 48759221 | 48759221 | NM_005710.2:c.194A>G | NP_005701.1:p.Tyr65Cys | NC_000023.10:g.48759221A>G | OMIM Allelic Variant:300463.0007 | C0796135 309500 Renpenning syndrome 1 | | |
NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del) | 10084 | PQBP1 | Benign;Pathogenic | 606231198 | RCV000011731; RCV000153765; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242; MedGen:CN169374 | X | 48759551 | 48759571 | NM_001032383.1:c.334_354del21 | NP_001027555.1:p.Gly113_Arg119del | NC_000023.10:g.48759551_48759571del21 | OMIM Allelic Variant:300463.0006 | CN169374 not specified; C0796135 309500 Renpenning syndrome 1 | | |
NM_001032383.1(PQBP1):c.459_462delAGAG (p.Arg153Serfs) | 10084 | PQBP1 | Pathogenic | 606231194 | RCV000011727; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242 | X | 48759676 | 48759679 | NM_001032383.1:c.459_462delAGAG | NP_001027555.1:p.Arg153Serfs | NC_000023.10:g.48759676_48759679delAGAG | OMIM Allelic Variant:300463.0002 | C0796135 309500 Renpenning syndrome 1 | | |
NM_001032383.1(PQBP1):c.461_462dupAG (p.Arg155Serfs) | 10084 | PQBP1 | Pathogenic | 606231193 | RCV000011726; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242 | X | 48759678 | 48759679 | NM_001032383.1:c.461_462dupAG | NP_001027555.1:p.Arg155Serfs | NC_000023.10:g.48759678_48759679dupAG | OMIM Allelic Variant:300463.0001 | C0796135 309500 Renpenning syndrome 1 | | |
NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs) | 10084 | PQBP1 | Pathogenic | 606231195 | RCV000011728; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242 | X | 48759678 | 48759679 | NM_001032383.1:c.461_462delAG | NP_001027555.1:p.Glu154Alafs | NC_000023.10:g.48759678_48759679delAG | OMIM Allelic Variant:300463.0003 | C0796135 309500 Renpenning syndrome 1 | | |
NM_001032383.1(PQBP1):c.547_569del23 (p.Glu183Glnfs) | 10084 | PQBP1 | Pathogenic | 606231197 | RCV000011730; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242 | X | 48759764 | 48759786 | NM_001032383.1:c.547_569del23 | NP_001027555.1:p.Glu183Glnfs | NC_000023.10:g.48759764_48759786del23 | OMIM Allelic Variant:300463.0005 | C0796135 309500 Renpenning syndrome 1 | | |
NM_005710.2(PQBP1):c.640dupC (p.Arg214Profs) | 10084 | PQBP1 | Pathogenic | 606231196 | RCV000011729; | N | MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242 | X | 48760071 | 48760071 | NM_005710.2:c.640dupC | NP_005701.1:p.Arg214Profs | NC_000023.10:g.48760071dupC | OMIM Allelic Variant:300463.0004 | C0796135 309500 Renpenning syndrome 1 | | |