Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001567.3(INPPL1):c.94_121del28 (p.Glu32Metfs) | 3636 | INPPL1 | Pathogenic | 797044470 | RCV000032677; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71936122 | 71936149 | NM_001567.3:c.94_121del28 | NP_001558.3:p.Glu32Metfs | NC_000011.9:g.71936122_71936149del28 | OMIM Allelic Variant:600829.0009 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.278_282delAGACC (p.Gln93Profs) | 3636 | INPPL1 | Pathogenic | 797044469 | RCV000032674; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71939423 | 71939427 | NM_001567.3:c.278_282delAGACC | NP_001558.3:p.Gln93Profs | NC_000011.9:g.71939423_71939427delAGACC | OMIM Allelic Variant:600829.0006 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.545C>A (p.Ser182Ter) | 3636 | INPPL1 | Pathogenic | 397514509 | RCV000032670; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71940160 | 71940160 | NM_001567.3:c.545C>A | NP_001558.3:p.Ser182Ter | NC_000011.9:g.71940160C>A | OMIM Allelic Variant:600829.0002 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.768delA (p.Glu258Serfs) | 3636 | INPPL1 | Pathogenic | 797044468 | RCV000032671; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71940721 | 71940721 | NM_001567.3:c.768delA | NP_001558.3:p.Glu258Serfs | NC_000011.9:g.71940721delA | OMIM Allelic Variant:600829.0003 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.1201C>T (p.Arg401Trp) | 3636 | INPPL1 | Pathogenic | 397514511 | RCV000032675; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71941843 | 71941843 | NM_001567.3:c.1201C>T | NP_001558.3:p.Arg401Trp | NC_000011.9:g.71941843C>T | OMIM Allelic Variant:600829.0007 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.1975C>T (p.Pro659Ser) | 3636 | INPPL1 | Pathogenic | 397514510 | RCV000032673; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71944142 | 71944142 | NM_001567.3:c.1975C>T | NP_001558.3:p.Pro659Ser | NC_000011.9:g.71944142C>T | OMIM Allelic Variant:600829.0005 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.1976C>T (p.Pro659Leu) | 3636 | INPPL1 | Pathogenic | 397514508 | RCV000032669; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71944143 | 71944143 | NM_001567.3:c.1976C>T | NP_001558.3:p.Pro659Leu | NC_000011.9:g.71944143C>T | OMIM Allelic Variant:600829.0001 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.2164T>A (p.Phe722Ile) | 3636 | INPPL1 | Pathogenic | 397514512 | RCV000032676; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71944740 | 71944740 | NM_001567.3:c.2164T>A | NP_001558.3:p.Phe722Ile | NC_000011.9:g.71944740T>A | OMIM Allelic Variant:600829.0008 | C0432219 258480 Opsismodysplasia | | |
NM_001567.3(INPPL1):c.2415+1G>A | 3636 | INPPL1 | Pathogenic | 655423 | RCV000032672; | N | MedGen:C0432219,OMIM:258480,ORPHA:2746,SNOMED CT:254068007 | 11 | 71945660 | 71945660 | NM_001567.3:c.2415+1G>A | | NC_000011.9:g.71945660G>A | OMIM Allelic Variant:600829.0004 | C0432219 258480 Opsismodysplasia | | |