Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter) | 2312 | FLG | Pathogenic;risk factor | 121909626 | RCV000017716; RCV000017717; | N | ; MedGen:C0079584,OMIM:146700 | 1 | 152279701 | 152279701 | NM_002016.1:c.7661C>G | NP_002007.1:p.Ser2554Ter | NC_000001.10:g.152279701G>C | OMIM Allelic Variant:135940.0003 | C0079584 146700 Ichthyosis vulgaris | | |
NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) | 2312 | FLG | Pathogenic;Uncertain significance;risk factor | 558269137 | RCV000017714; RCV000017715; RCV000191085; | Y | ; MedGen:C0079584,OMIM:146700; MedGen:C1853965,OMIM:605803 | 1 | 152285077 | 152285080 | NM_002016.1:c.2282_2285delCAGT | NP_002007.1:p.Ser761Cysfs | NC_000001.10:g.152285077_152285080delACTG | OMIM Allelic Variant:135940.0002 | C1853965 605803 Dermatitis, atopic, 2; C0079584 146700 Ichthyosis vulgaris | | |
NM_002016.1(FLG):c.2143C>T (p.Gln715Ter) | 2312 | FLG | Pathogenic | 797045090 | RCV000190587; | N | MedGen:C0079584,OMIM:146700 | 1 | 152285219 | 152285219 | NM_002016.1:c.2143C>T | NP_002007.1:p.Gln715Ter | NC_000001.10:g.152285219G>A | - | C0079584 146700 Ichthyosis vulgaris | | |
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) | 2312 | FLG | Pathogenic;risk factor | 61816761 | RCV000017712; RCV000017713; | Y | ; MedGen:C0079584,OMIM:146700 | 1 | 152285861 | 152285861 | NM_002016.1:c.1501C>T | NP_002007.1:p.Arg501Ter | NC_000001.10:g.152285861G>A | OMIM Allelic Variant:135940.0001 | C0079584 146700 Ichthyosis vulgaris | | |