Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_174923.2(CCDC107):c.-624C>A | 6023 | RMRP | Pathogenic | 727502774 | RCV000015277; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35657753 | 35657753 | - | - | NC_000009.11:g.35657753C>A | OMIM Allelic Variant:157660.0002 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |
NR_003051.3(RMRP):n.195dupT | 6023 | RMRP | Pathogenic | 796065036 | RCV000015291; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35657821 | 35657821 | - | - | NC_000009.11:g.35657821dupA | OMIM Allelic Variant:157660.0016 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |
RMRP:n.71A>G | 6023 | RMRP | Pathogenic | 199476103 | RCV000015275; RCV000015276; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002; MedGen:C1834821,OMIM:250460 | 9 | 35657945 | 35657945 | - | - | NC_000009.11:g.35657945T>C | OMIM Allelic Variant:157660.0001 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type; C1834821 250460 Metaphyseal dysplasia without hypotrichosis | | |
NR_003051.3(RMRP):n.64C>T | 6023 | RMRP | Likely pathogenic;Pathogenic | 786204684 | RCV000169492; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35657952 | 35657952 | - | - | NC_000009.11:g.35657952G>A | OMIM Allelic Variant:157660.0017 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |
NM_174923.2(CCDC107):c.-359_-343dup17 | 6023 | RMRP | Pathogenic | 727502778 | RCV000015282; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35658018 | 35658034 | - | - | NC_000009.11:g.35658018_35658034dup17 | OMIM Allelic Variant:157660.0007 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |
NM_174923.2(CCDC107):c.-357_-356insCTCAGG | 6023 | RMRP | Pathogenic | 727502777 | RCV000015281; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35658020 | 35658021 | - | - | NC_000009.11:g.35658020_35658021insCTCAGG | OMIM Allelic Variant:157660.0006 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |
NM_174923.2(CCDC107):c.-352_-338dupGCTTCACAGAGTAGT | 6023 | RMRP | Pathogenic | 727502776 | RCV000015279; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35658025 | 35658039 | - | - | NC_000009.11:g.35658025_35658039dupGCTTCACAGAGTAGT | OMIM Allelic Variant:157660.0004 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |
NM_174923.2(CCDC107):c.-349_-340dupTCACAGAGTA | 6023 | RMRP | Pathogenic | 727502775 | RCV000015278; | N | MedGen:C0220748,OMIM:250250,ORPHA:175,SNOMED CT:7720002 | 9 | 35658028 | 35658037 | - | - | NC_000009.11:g.35658028_35658037dupTCACAGAGTA | OMIM Allelic Variant:157660.0003 | C0220748 250250 Metaphyseal chondrodysplasia, McKusick type | | |