Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004465.1(FGF10):c.467T>G (p.Ile156Arg) | 2255 | FGF10 | Pathogenic | 104893886 | RCV000007967; | N | MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003 | 5 | 44305257 | 44305257 | NM_004465.1:c.467T>G | NP_004456.1:p.Ile156Arg | NC_000005.9:g.44305257A>C | OMIM Allelic Variant:602115.0004 | C0265269 149730 Levy-Hollister syndrome | | |
NM_004465.1(FGF10):c.409A>T (p.Lys137Ter) | 2255 | FGF10 | Pathogenic | 104893887 | RCV000007968; RCV000007969; | N | MedGen:C0158667,OMIM:180920,ORPHA:86815,SNOMED CT:22589009; MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003 | 5 | 44310549 | 44310549 | NM_004465.1:c.409A>T | NP_004456.1:p.Lys137Ter | NC_000005.9:g.44310549T>A | OMIM Allelic Variant:602115.0005 | C0158667 180920 Congenital absence of salivary gland; C0265269 149730 Levy-Hollister syndrome | | |
NM_004465.1(FGF10):c.317G>T (p.Cys106Phe) | 2255 | FGF10 | Pathogenic | 104893885 | RCV000007966; | N | MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003 | 5 | 44388468 | 44388468 | NM_004465.1:c.317G>T | NP_004456.1:p.Cys106Phe | NC_000005.9:g.44388468C>A | OMIM Allelic Variant:602115.0003 | C0265269 149730 Levy-Hollister syndrome | | |
NM_000141.4(FGFR2):c.1942G>A (p.Ala648Thr) | 2263 | FGFR2 | Pathogenic | 121918508 | RCV000014222; | N | MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003 | 10 | 123247549 | 123247549 | NM_000141.4:c.1942G>A | NP_000132.3:p.Ala648Thr | NC_000010.10:g.123247549C>T | OMIM Allelic Variant:176943.0035 | C0265269 149730 Levy-Hollister syndrome | | |
NM_000141.4(FGFR2):c.1882G>A (p.Ala628Thr) | 2263 | FGFR2 | Pathogenic | 121918509 | RCV000014224; | N | MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003 | 10 | 123247609 | 123247609 | NM_000141.4:c.1882G>A | NP_000132.3:p.Ala628Thr | NC_000010.10:g.123247609C>T | OMIM Allelic Variant:176943.0037 | C0265269 149730 Levy-Hollister syndrome | | |
NM_000142.4(FGFR3):c.1537G>A (p.Asp513Asn) | 2261 | FGFR3 | Pathogenic | 121913112 | RCV000017764; | N | MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003 | 4 | 1807288 | 1807288 | NM_000142.4:c.1537G>A | NP_000133.1:p.Asp513Asn | NC_000004.11:g.1807288G>A | OMIM Allelic Variant:134934.0028 | C0265269 149730 Levy-Hollister syndrome | | |