Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001457.3(FLNB):c.482T>G (p.Phe161Cys) | 2317 | FLNB | Pathogenic | 80356506 | RCV000030670; RCV000030660; | N | MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250 | 3 | 58062962 | 58062962 | NM_001457.3:c.482T>G | NP_001448.2:p.Phe161Cys | NC_000003.11:g.58062962T>G | OMIM Allelic Variant:603381.0004 | C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.679G>A (p.Glu227Lys) | 2317 | FLNB | Pathogenic | 80356508 | RCV000030672; RCV000030662; | N | MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250 | 3 | 58067395 | 58067395 | NM_001457.3:c.679G>A | NP_001448.2:p.Glu227Lys | NC_000003.11:g.58067395G>A | OMIM Allelic Variant:603381.0011 | C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.700C>G (p.Leu234Val) | 2317 | FLNB | Pathogenic | 80356507 | RCV000020459; | N | MedGen:C1835564,OMIM:150250 | 3 | 58067416 | 58067416 | NM_001457.3:c.700C>G | NP_001448.2:p.Leu234Val | NC_000003.11:g.58067416C>G | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.1081G>A (p.Gly361Ser) | 2317 | FLNB | Pathogenic | 80356509 | RCV000020441; | N | MedGen:C1835564,OMIM:150250 | 3 | 58083638 | 58083638 | NM_001457.3:c.1081G>A | NP_001448.2:p.Gly361Ser | NC_000003.11:g.58083638G>A | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.1088G>A (p.Gly363Glu) | 2317 | FLNB | Pathogenic | 80356510 | RCV000020442; | N | MedGen:C1835564,OMIM:150250 | 3 | 58083645 | 58083645 | NM_001457.3:c.1088G>A | NP_001448.2:p.Gly363Glu | NC_000003.11:g.58083645G>A | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.4292T>G (p.Leu1431Arg) | 2317 | FLNB | Pathogenic | 80356511 | RCV000020444; | N | MedGen:C1835564,OMIM:150250 | 3 | 58116537 | 58116537 | NM_001457.3:c.4292T>G | NP_001448.2:p.Leu1431Arg | NC_000003.11:g.58116537T>G | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.4711_4713delAAT (p.Asn1571del) | 2317 | FLNB | Pathogenic | 80356512 | RCV000020446; | N | MedGen:C1835564,OMIM:150250 | 3 | 58121745 | 58121747 | NM_001457.3:c.4711_4713delAAT | NP_001448.2:p.Asn1571del | NC_000003.11:g.58121745_58121747delAAT | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.4756G>A (p.Gly1586Arg) | 2317 | FLNB | Pathogenic | 80356513 | RCV000030669; RCV000030661; | N | MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250 | 3 | 58121790 | 58121790 | NM_001457.3:c.4756G>A | NP_001448.2:p.Gly1586Arg | NC_000003.11:g.58121790G>A | OMIM Allelic Variant:603381.0005 | C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.4775T>A (p.Val1592Asp) | 2317 | FLNB | Pathogenic | 80356514 | RCV000020448; | N | MedGen:C1835564,OMIM:150250 | 3 | 58121809 | 58121809 | NM_001457.3:c.4775T>A | NP_001448.2:p.Val1592Asp | NC_000003.11:g.58121809T>A | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.4808C>T (p.Pro1603Leu) | 2317 | FLNB | Pathogenic | 80356515 | RCV000020450; | N | MedGen:C1835564,OMIM:150250 | 3 | 58121842 | 58121842 | NM_001457.3:c.4808C>T | NP_001448.2:p.Pro1603Leu | NC_000003.11:g.58121842C>T | - | C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.5071G>A (p.Gly1691Ser) | 2317 | FLNB | Pathogenic | 80356503 | RCV000030671; RCV000030663; | N | MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250 | 3 | 58124218 | 58124218 | NM_001457.3:c.5071G>A | NP_001448.2:p.Gly1691Ser | NC_000003.11:g.58124218G>A | OMIM Allelic Variant:603381.0012 | C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type | | |
NM_001457.3(FLNB):c.5500G>A (p.Gly1834Arg) | 2317 | FLNB | Pathogenic | 80356516 | RCV000020455; | N | MedGen:C1835564,OMIM:150250 | 3 | 58131722 | 58131722 | NM_001457.3:c.5500G>A | NP_001448.2:p.Gly1834Arg | NC_000003.11:g.58131722G>A | - | C1835564 150250 Larsen syndrome, dominant type | | |