Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001110556.1(FLNA):c.7757-1G>C | 2316 | FLNA | Pathogenic | 797044496 | RCV000178620; RCV000153246; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009 | X | 153577405 | 153577405 | NM_001110556.1:c.7757-1G>C | | NC_000023.10:g.153577405C>G | - | C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.7153C>T (p.Gln2385Ter) | 2316 | FLNA | Pathogenic | 727503931 | RCV000178520; RCV000178521; RCV000153250; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153579280 | 153579280 | NM_001110556.1:c.7153C>T | NP_001104026.1:p.Gln2385Ter | NC_000023.10:g.153579280G>A | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.5854delG (p.Val1952Serfs) | 2316 | FLNA | Pathogenic | 797044724 | RCV000177836; RCV000177835; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009 | X | 153581928 | 153581928 | NM_001110556.1:c.5854delG | NP_001104026.1:p.Val1952Serfs | NC_000023.10:g.153581928delC | - | C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.5132_5133delTCinsAA (p.Phe1711Ter) | 2316 | FLNA | Pathogenic | 398123621 | RCV000177454; RCV000177455; RCV000079701; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153583277 | 153583278 | NM_001110556.1:c.5132_5133delTCinsAA | NP_001104026.1:p.Phe1711Ter | NC_000023.10:g.153583277_153583278delGAinsTT | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001456.3(FLNA):c.4777_4778dupAA (p.Thr1594Argfs) | 2316 | FLNA | Pathogenic | 786200973 | RCV000176923; RCV000176924; RCV000153252; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153585969 | 153585970 | NM_001456.3:c.4777_4778dupAA | NP_001447.2:p.Thr1594Argfs | NC_000023.10:g.153585968_153585969insTT,NC_000023.10:g.153585969_153585970dupTT | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.4543C>T (p.Arg1515Ter) | 2316 | FLNA | Pathogenic | 186214592 | RCV000176727; RCV000176728; RCV000079699; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153586868 | 153586868 | NM_001110556.1:c.4543C>T | NP_001104026.1:p.Arg1515Ter | NC_000023.10:g.153586868G>A | HGMD:CM067669 | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.4447_4448insAT (p.Leu1483Tyrfs) | 2316 | FLNA | Pathogenic | 398123620 | RCV000176639; RCV000170414; RCV000079698; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153587378 | 153587379 | NM_001110556.1:c.4447_4448insAT | NP_001104026.1:p.Leu1483Tyrfs | NC_000023.10:g.153587378_153587379insAT | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.3153dupC (p.Val1052Argfs) | 2316 | FLNA | Pathogenic | 398123616 | RCV000176184; RCV000176183; RCV000079692; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153589730 | 153589730 | NM_001110556.1:c.3153dupC | NP_001104026.1:p.Val1052Argfs | NC_000023.10:g.153589730dupG | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |
NM_001110556.1(FLNA):c.2761C>T (p.Arg921Ter) | 2316 | FLNA | Pathogenic | 398123614 | RCV000175416; RCV000175417; RCV000079689; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153590412 | 153590412 | NM_001110556.1:c.2761C>T | NP_001104026.1:p.Arg921Ter | NC_000023.10:g.153590412G>A | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; 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.620C>T (p.Pro207Leu) | 2316 | FLNA | Pathogenic | 28935469 | RCV000012521; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001 | X | 153596212 | 153596212 | NM_001110556.1:c.620C>T | NP_001104026.1:p.Pro207Leu | NC_000023.10:g.153596212G>A | OMIM Allelic Variant:300017.0009 | C0265251 311300 Oto-palato-digital syndrome, type I | | |
NM_001110556.1(FLNA):c.607G>T (p.Asp203Tyr) | 2316 | FLNA | Pathogenic | 137853314 | RCV000012532; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001 | X | 153596225 | 153596225 | NM_001110556.1:c.607G>T | NP_001104026.1:p.Asp203Tyr | NC_000023.10:g.153596225C>A | OMIM Allelic Variant:300017.0020 | C0265251 311300 Oto-palato-digital syndrome, type I | | |
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 | | |
NM_001110556.1(FLNA):c.42delC (p.Ala15Argfs) | 2316 | FLNA | Pathogenic | 398123619 | RCV000175695; RCV000175696; RCV000079697; | N | MedGen:C0265251,OMIM:311300,ORPHA:90650,SNOMED CT:54036001; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN221809 | X | 153599572 | 153599572 | NM_001110556.1:c.42delC | NP_001104026.1:p.Ala15Argfs | NC_000023.10:g.153599572delG | - | CN221809 not provided; C0265251 311300 Oto-palato-digital syndrome, type I; C1848213 300049 X-linked periventricular heterotopia | | |