Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000921.4(PDE3A):c.1333A>G (p.Thr445Ala) | 5139 | PDE3A | Pathogenic | 794726865 | RCV000173039; | N | Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276 | 12 | 20769227 | 20769227 | NM_000921.4:c.1333A>G | NP_000912.3:p.Thr445Ala | NC_000012.11:g.20769227A>G | OMIM Allelic Variant:123805.0002 | C1862170 112410 Brachydactyly with hypertension | | |
NM_000921.4(PDE3A):c.1334C>A (p.Thr445Asn) | 5139 | PDE3A | Pathogenic | 794726864 | RCV000173038; | N | Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276 | 12 | 20769228 | 20769228 | NM_000921.4:c.1334C>A | NP_000912.3:p.Thr445Asn | NC_000012.11:g.20769228C>A | OMIM Allelic Variant:123805.0001 | C1862170 112410 Brachydactyly with hypertension | | |
NG_030033.1:g.252050C>G | 5139 | PDE3A | Pathogenic | 794726864 | RCV000173040; | N | Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276 | 12 | 20769228 | 20769228 | NM_000921.4:c.1334C>G | | | OMIM Allelic Variant:123805.0003 | C1862170 112410 Brachydactyly with hypertension | | |
NM_000921.4(PDE3A):c.1339G>A (p.Ala447Thr) | 5139 | PDE3A | Pathogenic | 794726866 | RCV000173041; | N | Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276 | 12 | 20769233 | 20769233 | NM_000921.4:c.1339G>A | NP_000912.3:p.Ala447Thr | NC_000012.11:g.20769233G>A | OMIM Allelic Variant:123805.0004 | C1862170 112410 Brachydactyly with hypertension | | |
NM_000921.4(PDE3A):c.1340C>T (p.Ala447Val) | 5139 | PDE3A | Pathogenic | 794726867 | RCV000173042; | N | Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276 | 12 | 20769234 | 20769234 | NM_000921.4:c.1340C>T | NP_000912.3:p.Ala447Val | NC_000012.11:g.20769234C>T | OMIM Allelic Variant:123805.0005 | C1862170 112410 Brachydactyly with hypertension | | |
NM_000921.4(PDE3A):c.1346G>T (p.Gly449Val) | 5139 | PDE3A | Pathogenic | 794726868 | RCV000173043; | N | Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276 | 12 | 20769240 | 20769240 | NM_000921.4:c.1346G>T | NP_000912.3:p.Gly449Val | NC_000012.11:g.20769240G>T | OMIM Allelic Variant:123805.0006 | C1862170 112410 Brachydactyly with hypertension | | |