Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000423.2(KRT2):c.1461G>T (p.Glu487Asp) | 3849 | KRT2 | Pathogenic | 137852628 | RCV000009893; RCV000056533; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002; MedGen:CN221809 | 12 | 53040532 | 53040532 | NM_000423.2:c.1461G>T | NP_000414.2:p.Glu487Asp | NC_000012.11:g.53040532C>A | OMIM Allelic Variant:600194.0001 | C0432306 146800 Ichthyosis bullosa of Siemens; CN221809 not provided | | |
NM_000423.2(KRT2):c.1459G>A (p.Glu487Lys) | 3849 | KRT2 | Pathogenic | 137852629 | RCV000009894; RCV000009895; RCV000056532; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002; MedGen:C1838440; MedGen:CN221809 | 12 | 53040534 | 53040534 | NM_000423.2:c.1459G>A | NP_000414.2:p.Glu487Lys | NC_000012.11:g.53040534C>T | OMIM Allelic Variant:600194.0002 | C0432306 146800 Ichthyosis bullosa of Siemens; C1838440 Ichthyosis exfoliativa; CN221809 not provided | | |
NM_000423.2(KRT2):c.1435A>C (p.Thr479Pro) | 3849 | KRT2 | Pathogenic | 137852630 | RCV000009897; RCV000056529; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002; MedGen:CN221809 | 12 | 53040558 | 53040558 | NM_000423.2:c.1435A>C | NP_000414.2:p.Thr479Pro | NC_000012.11:g.53040558T>G | OMIM Allelic Variant:600194.0004 | C0432306 146800 Ichthyosis bullosa of Siemens; CN221809 not provided | | |
NM_000423.2(KRT2):c.1426G>A (p.Glu476Lys) | 3849 | KRT2 | Pathogenic | 56829062 | RCV000009899; RCV000056527; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002; MedGen:CN221809 | 12 | 53040567 | 53040567 | NM_000423.2:c.1426G>A | NP_000414.2:p.Glu476Lys | NC_000012.11:g.53040567C>T | OMIM Allelic Variant:600194.0006 | C0432306 146800 Ichthyosis bullosa of Siemens; CN221809 not provided | | |
NM_000423.2(KRT2):c.558C>A (p.Asn186Lys) | 3849 | KRT2 | Pathogenic | 137852632 | RCV000009901; RCV000056539; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002; MedGen:CN221809 | 12 | 53045369 | 53045369 | NM_000423.2:c.558C>A | NP_000414.2:p.Asn186Lys | NC_000012.11:g.53045369G>T | OMIM Allelic Variant:600194.0008 | C0432306 146800 Ichthyosis bullosa of Siemens; CN221809 not provided | | |
NM_000423.2(KRT2):c.556A>T (p.Asn186Tyr) | 3849 | KRT2 | Pathogenic | 137852631 | RCV000009898; RCV000056538; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002; MedGen:CN221809 | 12 | 53045371 | 53045371 | NM_000423.2:c.556A>T | NP_000414.2:p.Asn186Tyr | NC_000012.11:g.53045371T>A,NC_000012.11:g.53045371T>C | OMIM Allelic Variant:600194.0005 | C0432306 146800 Ichthyosis bullosa of Siemens; CN221809 not provided | | |
NM_000423.2(KRT2):c.556A>G (p.Asn186Asp) | 3849 | KRT2 | Pathogenic | 137852631 | RCV000009900; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002 | 12 | 53045371 | 53045371 | NM_000423.2:c.556A>G | NP_000414.2:p.Asn186Asp | NC_000012.11:g.53045371T>A,NC_000012.11:g.53045371T>C | OMIM Allelic Variant:600194.0007 | C0432306 146800 Ichthyosis bullosa of Siemens | | |
NM_000423.2(KRT2):c.542A>C (p.Gln181Pro) | 3849 | KRT2 | Pathogenic | 57510142 | RCV000009896; | N | MedGen:C0432306,OMIM:146800,ORPHA:455,SNOMED CT:254169002 | 12 | 53045385 | 53045385 | NM_000423.2:c.542A>C | NP_000414.2:p.Gln181Pro | NC_000012.11:g.53045385T>A,NC_000012.11:g.53045385T>G | OMIM Allelic Variant:600194.0003 | C0432306 146800 Ichthyosis bullosa of Siemens | | |