Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_198270.3(NHS):c.115C>T (p.Gln39Ter) | 4810 | NHS | Pathogenic | 104894881 | RCV000011774; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17393995 | 17393995 | NM_198270.3:c.115C>T | NP_938011.1:p.Gln39Ter | NC_000023.10:g.17393995C>T | OMIM Allelic Variant:300457.0005 | C0796085 302350 Nance-Horan syndrome | | |
NM_001136024.3(NHS):c.163C>T (p.Gln55Ter) | 4810 | NHS | Likely pathogenic | 875989805 | RCV000211110; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17705990 | 17705990 | NM_001136024.3:c.163C>T | NP_001129496.1:p.Gln55Ter | NC_000023.10:g.17705990C>T | - | C0796085 302350 Nance-Horan syndrome | | |
NM_198270.3(NHS):c.718dupG (p.Glu240Glyfs) | 4810 | NHS | Pathogenic | 770771757 | RCV000011773; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17706014 | 17706014 | NM_198270.3:c.718dupG | NP_938011.1:p.Glu240Glyfs | NC_000023.10:g.17706014dupG | OMIM Allelic Variant:300457.0004 | C0796085 302350 Nance-Horan syndrome | | |
NM_198270.3(NHS):c.852delG (p.Ser285Profs) | 4810 | NHS | Pathogenic | 786205677 | RCV000170469; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17710588 | 17710588 | NM_198270.3:c.852delG | NP_938011.1:p.Ser285Profs | NC_000023.10:g.17710588delG | OMIM Allelic Variant:300457.0009 | C0796085 302350 Nance-Horan syndrome | | |
NM_198270.3(NHS):c.853-2A>G | 4810 | NHS | Pathogenic | 786205257 | RCV000011775; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17739559 | 17739559 | NM_198270.3:c.853-2A>G | | NC_000023.10:g.17739559A>G | OMIM Allelic Variant:300457.0006 | C0796085 302350 Nance-Horan syndrome | | |
NM_198270.3(NHS):c.1117C>T (p.Arg373Ter) | 4810 | NHS | Pathogenic | 132630322 | RCV000011772; RCV000082793; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004; MedGen:CN221809 | X | 17742490 | 17742490 | NM_198270.3:c.1117C>T | NP_938011.1:p.Arg373Ter | NC_000023.10:g.17742490C>T | HGMD:CM032969,OMIM Allelic Variant:300457.0003 | C0796085 302350 Nance-Horan syndrome; CN221809 not provided | | |
NM_198270.3(NHS):c.2387dupC (p.Ser797Phefs) | 4810 | NHS | Pathogenic | 786205255 | RCV000011770; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17744676 | 17744676 | NM_198270.3:c.2387dupC | NP_938011.1:p.Ser797Phefs | NC_000023.10:g.17744676dupC | OMIM Allelic Variant:300457.0001 | C0796085 302350 Nance-Horan syndrome | | |
NM_198270.3(NHS):c.3459delC (p.Leu1154Cysfs) | 4810 | NHS | Pathogenic | 786205256 | RCV000011771; | N | MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004 | X | 17745748 | 17745748 | NM_198270.3:c.3459delC | NP_938011.1:p.Leu1154Cysfs | NC_000023.10:g.17745748delC | OMIM Allelic Variant:300457.0002 | C0796085 302350 Nance-Horan syndrome | | |