Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_006492.3(ALX3):c.736_737del (p.Leu246fs) | 257 | ALX3 | Likely pathogenic | rs1553196068 | RCV000677633; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110603650 | 110603651 | CAG | C | NC_000001.10:g.110603650_110603651del | - | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.608A>G (p.Asn203Ser) | 257 | ALX3 | Pathogenic | rs121908166 | RCV000004906; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110604172 | 110604172 | T | C | 1:g.110604172T>C | ClinGen:CA116980,UniProtKB:O95076#VAR_063229,OMIM:606014.0002 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.595-2A>T | 257 | ALX3 | Pathogenic | rs1570936479 | RCV000004905; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110604187 | 110604187 | T | A | NC_000001.10:g.110604187T>A | OMIM:606014.0001 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.586C>T (p.Arg196Trp) | 257 | ALX3 | Pathogenic | rs121908170 | RCV000004911; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110607217 | 110607217 | G | A | 1:g.110607217G>A | ClinGen:CA116986,UniProtKB:O95076#VAR_063228,OMIM:606014.0007 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.578_581del (p.Thr193fs) | 257 | ALX3 | Pathogenic | rs387906319 | RCV000004910; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110607222 | 110607225 | CTCAG | C | 1:g.110607222_110607225del | ClinGen:CA116985,OMIM:606014.0006 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.547C>T (p.Arg183Trp) | 257 | ALX3 | Pathogenic | rs121908168 | RCV000004908; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110607256 | 110607256 | G | A | 1:g.110607256G>A | ClinGen:CA116982,UniProtKB:O95076#VAR_063227,OMIM:606014.0004 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter) | 257 | ALX3 | Pathogenic | rs121908169 | RCV000004909; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110607260 | 110607260 | A | T | 1:g.110607260A>T | ClinGen:CA116983,OMIM:606014.0005 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.502C>G (p.Leu168Val) | 257 | ALX3 | Pathogenic | rs121908167 | RCV000004907; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474 | 1 | 110607301 | 110607301 | G | C | 1:g.110607301G>C | ClinGen:CA116981,UniProtKB:O95076#VAR_063226,OMIM:606014.0003 | C1876203 136760 Frontonasal dysplasia 1; | |
NM_006492.3(ALX3):c.277+33C>T | 257 | ALX3 | Benign | -1 | RCV001548883|RCV001647413; | N | MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474|MedGen:CN517202 | 1 | 110612925 | 110612925 | G | A | 110612925 | - | | |