Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005691.3(ABCC9):c.3461G>A (p.Arg1154Gln) | 10060 | ABCC9 | Pathogenic | 387907209 | RCV000024625; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 21995260 | 21995260 | NM_005691.3:c.3461G>A | NP_005682.2:p.Arg1154Gln | NC_000012.11:g.21995260C>T | OMIM Allelic Variant:601439.0005 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_005691.3(ABCC9):c.3460C>T (p.Arg1154Trp) | 10060 | ABCC9 | Pathogenic | 387907208 | RCV000024624; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 21995261 | 21995261 | NM_005691.3:c.3460C>T | NP_005682.2:p.Arg1154Trp | NC_000012.11:g.21995261G>A | OMIM Allelic Variant:601439.0004 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_020297.3(ABCC9):c.3347G>A (p.Arg1116His) | 10060 | ABCC9 | Pathogenic | 387907227 | RCV000029188; RCV000183235; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517; MedGen:CN221809 | 12 | 21995374 | 21995374 | NM_020297.3:c.3347G>A | NP_064693.2:p.Arg1116His | NC_000012.11:g.21995374C>T | OMIM Allelic Variant:601439.0008 | C0795905 239850 Hypertrichotic osteochondrodysplasia; CN221809 not provided | | |
NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) | 10060 | ABCC9 | Pathogenic | 387907228 | RCV000029189; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 21995375 | 21995375 | NM_005691.3:c.3346C>T | NP_005682.2:p.Arg1116Cys | NC_000012.11:g.21995375G>A | OMIM Allelic Variant:601439.0009 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr) | 10060 | ABCC9 | Pathogenic | 387907210 | RCV000024626; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 21997818 | 21997818 | NM_005691.3:c.3128G>A | NP_005682.2:p.Cys1043Tyr | NC_000012.11:g.21997818C>T | OMIM Allelic Variant:601439.0006 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_005691.3(ABCC9):c.3058T>C (p.Ser1020Pro) | 10060 | ABCC9 | Pathogenic | 387907229 | RCV000029190; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 21998575 | 21998575 | NM_005691.3:c.3058T>C | NP_005682.2:p.Ser1020Pro | NC_000012.11:g.21998575A>G | OMIM Allelic Variant:601439.0010 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val) | 10060 | ABCC9 | Pathogenic | 387907211 | RCV000024627; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 22061033 | 22061033 | NM_005691.3:c.1433C>T | NP_005682.2:p.Ala478Val | NC_000012.11:g.22061033G>A | OMIM Allelic Variant:601439.0007 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_005691.3(ABCC9):c.178C>T (p.His60Tyr) | 10060 | ABCC9 | Pathogenic | 387907230 | RCV000029191; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 12 | 22086822 | 22086822 | NM_005691.3:c.178C>T | NP_005682.2:p.His60Tyr | NC_000012.11:g.22086822G>A | OMIM Allelic Variant:601439.0011 | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |
NM_005960.1(MUC3A):c.8480C>T (p.Thr2827Ile) | 4584 | MUC3A | Pathogenic | 145584597 | RCV000202618; | N | MedGen:C0795905,OMIM:239850,ORPHA:1517 | 7 | 100552388 | 100552388 | NM_005960.1:c.8480C>T | NP_005951.1:p.Thr2827Ile | NC_000007.13:g.100552388C>T | - | C0795905 239850 Hypertrichotic osteochondrodysplasia | | |