Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001456.3(FLNA):c.7035T>G (p.Phe2345Leu) | 2316 | FLNA | Uncertain significance | 864622713 | RCV000204164; | N | MedGen:C0025237,OMIM:309350,ORPHA:2484,SNOMED CT:13449007; MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009 | X | 153579374 | 153579374 | NM_001456.3:c.7035T>G | NP_001447.2:p.Phe2345Leu | | - | C0265293 305620 Frontometaphyseal dysplasia; C0025237 309350 Melnick-Needles syndrome; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) | 2316 | FLNA | Benign;Likely benign | 113510895 | RCV000079709; RCV000205572; | N | MedGen:C0025237,OMIM:309350,ORPHA:2484,SNOMED CT:13449007; MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN169374 | X | 153580576 | 153580576 | NM_001110556.1:c.6742C>T | NP_001104026.1:p.Leu2248= | NC_000023.10:g.153580576G>A | - | C0265293 305620 Frontometaphyseal dysplasia; C0025237 309350 Melnick-Needles syndrome; CN169374 not specified; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys) | 2316 | FLNA | Pathogenic | 28935470 | RCV000178843; RCV000012522; RCV000178844; RCV000079711; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153595873 | 153595873 | NM_001110556.1:c.760G>A | NP_001104026.1:p.Glu254Lys | NC_000023.10:g.153595873C>T | HGMD:CM030666,OMIM Allelic Variant:300017.0010 | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.629G>T (p.Cys210Phe) | 2316 | FLNA | Pathogenic | 137853318 | RCV000012540; | N | MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003 | X | 153596100 | 153596100 | NM_001110556.1:c.629G>T | NP_001104026.1:p.Cys210Phe | NC_000023.10:g.153596100C>A | OMIM Allelic Variant:300017.0027 | C1844696 304120 Oto-palato-digital syndrome, type II | | |
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) | 2316 | FLNA | Pathogenic;Uncertain significance | 137853317 | RCV000012538; RCV000012539; RCV000153245; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:CN221809 | X | 153596246 | 153596246 | NM_001110556.1:c.586C>T | NP_001104026.1:p.Arg196Trp | NC_000023.10:g.153596246G>A | HGMD:CM030663,OMIM Allelic Variant:300017.0026 | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1844696 304120 Oto-palato-digital syndrome, type II | | |