| Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_181523.2(PIK3R1):c.1106C>T (p.Thr369Ile) | 5295 | PIK3R1 | Likely pathogenic | 587784325 | RCV000147273; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67589015 | 67589015 | NM_181523.2:c.1106C>T | NP_852664.1:p.Thr369Ile | NC_000005.9:g.67589015C>T | - | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1460T>C (p.Phe487Ser) | 5295 | PIK3R1 | Likely pathogenic | 797045063 | RCV000191118; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67590398 | 67590398 | NM_181523.2:c.1460T>C | NP_852664.1:p.Phe487Ser | NC_000005.9:g.67590398T>C | - | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1465G>A (p.Glu489Lys) | 5295 | PIK3R1 | Pathogenic | 397514047 | RCV000054533; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67590403 | 67590403 | NM_181523.2:c.1465G>A | NP_852664.1:p.Glu489Lys | NC_000005.9:g.67590403G>A | OMIM Allelic Variant:171833.0003 | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1615_1617delATT (p.Ile539del) | 5295 | PIK3R1 | Pathogenic | 397514046 | RCV000054532; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67591022 | 67591024 | NM_181523.2:c.1615_1617delATT | NP_852664.1:p.Ile539del | NC_000005.9:g.67591022_67591024delATT | OMIM Allelic Variant:171833.0002 | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1892G>A (p.Arg631Gln) | 5295 | PIK3R1 | Pathogenic | 515726149 | RCV000202555; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67592076 | 67592076 | NM_181523.2:c.1892G>A | NP_852664.1:p.Arg631Gln | 5:g.67592076G>A | - | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1906_1907insC (p.Asn636Thrfs) | 5295 | PIK3R1 | Pathogenic | 398122385 | RCV000054536; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67592090 | 67592091 | NM_181523.2:c.1906_1907insC | NP_852664.1:p.Asn636Thrfs | NC_000005.9:g.67592090_67592091insC | OMIM Allelic Variant:171833.0006 | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1906_1907delAA (p.Asn636Profs) | 5295 | PIK3R1 | Pathogenic | 515726150 | RCV000202470; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67592090 | 67592091 | NM_181523.2:c.1906_1907delAA | NP_852664.1:p.Asn636Profs | | - | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1943dupT (p.Arg649Profs) | 5295 | PIK3R1 | Pathogenic | 398122384 | RCV000054535; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67592127 | 67592127 | NM_181523.2:c.1943dupT | NP_852664.1:p.Arg649Profs | NC_000005.9:g.67592127dupT | OMIM Allelic Variant:171833.0005 | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1945C>T (p.Arg649Trp) | 5295 | PIK3R1 | Pathogenic | 397515453 | RCV000054534; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67592129 | 67592129 | NM_181523.2:c.1945C>T | NP_852664.1:p.Arg649Trp | NC_000005.9:g.67592129C>T | OMIM Allelic Variant:171833.0004 | C0878684 269880 SHORT syndrome | | |
| NM_181523.2(PIK3R1):c.1971T>G (p.Tyr657Ter) | 5295 | PIK3R1 | Pathogenic | 515726151 | RCV000202477; | N | MedGen:C0878684,OMIM:269880,ORPHA:3163 | 5 | 67592155 | 67592155 | NM_181523.2:c.1971T>G | NP_852664.1:p.Tyr657Ter | 5:g.67592155T>G | - | C0878684 269880 SHORT syndrome | | |
SHORT syndrome