Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_198965.1(PTHLH):c.534A>G (p.Ter178Trp) | 5744 | PTHLH | Pathogenic | 267606987 | RCV000014747; | N | MedGen:C3150644,OMIM:613382 | 12 | 28111492 | 28111492 | NM_198965.1:c.534A>G | NP_945316.1:p.Ter178Trp | NC_000012.11:g.28111492T>C | OMIM Allelic Variant:168470.0003 | C3150644 613382 Brachydactyly type E2 | | |
NM_198965.1(PTHLH):c.358A>T (p.Lys120Ter) | 5744 | PTHLH | Pathogenic | 267606988 | RCV000014748; | N | MedGen:C3150644,OMIM:613382 | 12 | 28116447 | 28116447 | NM_198965.1:c.358A>T | NP_945316.1:p.Lys120Ter | NC_000012.11:g.28116447T>A | OMIM Allelic Variant:168470.0004 | C3150644 613382 Brachydactyly type E2 | | |
NM_198965.1(PTHLH):c.179T>C (p.Leu60Pro) | 5744 | PTHLH | Pathogenic | 267606985 | RCV000014745; | N | MedGen:C3150644,OMIM:613382 | 12 | 28116626 | 28116626 | NM_198965.1:c.179T>C | NP_945316.1:p.Leu60Pro | NC_000012.11:g.28116626A>G | OMIM Allelic Variant:168470.0001 | C3150644 613382 Brachydactyly type E2 | | |
NM_198965.1(PTHLH):c.131T>C (p.Leu44Pro) | 5744 | PTHLH | Pathogenic | 267606986 | RCV000014746; | N | MedGen:C3150644,OMIM:613382 | 12 | 28116674 | 28116674 | NM_198965.1:c.131T>C | NP_945316.1:p.Leu44Pro | NC_000012.11:g.28116674A>G | OMIM Allelic Variant:168470.0002 | C3150644 613382 Brachydactyly type E2 | | |