Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_007055.3(POLR3A):c.4006C>T (p.Gln1336Ter) | 11128 | POLR3A | Pathogenic | 267608675 | RCV000034149; | N | MedGen:C1843200,OMIM:607694 | 10 | 79739917 | 79739917 | NM_007055.3:c.4006C>T | NP_008986.2:p.Gln1336Ter | NC_000010.10:g.79739917G>A | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.3991G>A (p.Ala1331Thr) | 11128 | POLR3A | Pathogenic | 267608680 | RCV000034148; | N | MedGen:C1843200,OMIM:607694 | 10 | 79739932 | 79739932 | NM_007055.3:c.3991G>A | NP_008986.2:p.Ala1331Thr | NC_000010.10:g.79739932C>T | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) | 11128 | POLR3A | Pathogenic | 267608669 | RCV000034147; | N | MedGen:C1843200,OMIM:607694 | 10 | 79741928 | 79741929 | NM_007055.3:c.3742_3743insACC | NP_008986.2:p.Ser1248delinsTyrPro | NC_000010.10:g.79741928_79741929insGGT | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.3436G>A (p.Ala1146Thr) | 11128 | POLR3A | Uncertain significance | 41274600 | RCV000185529; | N | MedGen:C1843200,OMIM:607694 | 10 | 79742569 | 79742569 | NM_007055.3:c.3436G>A | NP_008986.2:p.Ala1146Thr | NC_000010.10:g.79742569C>T | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.3014G>A (p.Arg1005His) | 11128 | POLR3A | Pathogenic | 200118797 | RCV000034146; | N | MedGen:C1843200,OMIM:607694 | 10 | 79745718 | 79745718 | NM_007055.3:c.3014G>A | NP_008986.2:p.Arg1005His | NC_000010.10:g.79745718C>T | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.3013C>T (p.Arg1005Cys) | 11128 | POLR3A | Pathogenic | 267608682 | RCV000024145; | N | MedGen:C1843200,OMIM:607694 | 10 | 79745719 | 79745719 | NM_007055.3:c.3013C>T | NP_008986.2:p.Arg1005Cys | NC_000010.10:g.79745719G>A | OMIM Allelic Variant:614258.0007 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2830G>T (p.Glu944Ter) | 11128 | POLR3A | Pathogenic | 267608674 | RCV000034145; | N | MedGen:C1843200,OMIM:607694 | 10 | 79750883 | 79750883 | NM_007055.3:c.2830G>T | NP_008986.2:p.Glu944Ter | NC_000010.10:g.79750883C>A | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2690T>A (p.Ile897Asn) | 11128 | POLR3A | Pathogenic | 267608681 | RCV000024144; | N | MedGen:C1843200,OMIM:607694 | 10 | 79753052 | 79753052 | NM_007055.3:c.2690T>A | NP_008986.2:p.Ile897Asn | NC_000010.10:g.79753052A>T | OMIM Allelic Variant:614258.0006 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2617-1G>A | 11128 | POLR3A | Pathogenic | 181087667 | RCV000024142; | N | MedGen:C1843200,OMIM:607694 | 10 | 79753126 | 79753126 | NM_007055.3:c.2617-1G>A | | NC_000010.10:g.79753126C>T | OMIM Allelic Variant:614258.0004 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2554A>G (p.Met852Val) | 11128 | POLR3A | Likely pathogenic;Pathogenic | 267608671 | RCV000024141; RCV000198773; | N | MedGen:C1843200,OMIM:607694 | 10 | 79759801 | 79759801 | NM_007055.3:c.2554A>G | NP_008986.2:p.Met852Val | NC_000010.10:g.79759801T>C | OMIM Allelic Variant:614258.0003 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2554A>G (p.Met852Val) | 11128 | POLR3A | Likely pathogenic;Pathogenic | 267608671 | RCV000024141; RCV000198773; | N | MedGen:C1843200,OMIM:607694 | 10 | 79759801 | 79759801 | NM_007055.3:c.2554A>G | NP_008986.2:p.Met852Val | NC_000010.10:g.79759801T>C | OMIM Allelic Variant:614258.0003 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2324A>T (p.Asn775Ile) | 11128 | POLR3A | Pathogenic | 267608672 | RCV000034144; | N | MedGen:C1843200,OMIM:607694 | 10 | 79761990 | 79761990 | NM_007055.3:c.2324A>T | NP_008986.2:p.Asn775Ile | NC_000010.10:g.79761990T>A | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2171G>A (p.Cys724Tyr) | 11128 | POLR3A | Pathogenic | 267608679 | RCV000034143; | N | MedGen:C1843200,OMIM:607694 | 10 | 79764550 | 79764550 | NM_007055.3:c.2171G>A | NP_008986.2:p.Cys724Tyr | NC_000010.10:g.79764550C>T | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.2015G>A (p.Gly672Glu) | 11128 | POLR3A | Pathogenic | 267608670 | RCV000024139; | N | MedGen:C1843200,OMIM:607694 | 10 | 79767519 | 79767519 | NM_007055.3:c.2015G>A | NP_008986.2:p.Gly672Glu | NC_000010.10:g.79767519C>T | OMIM Allelic Variant:614258.0001 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.1909+18G>A | 11128 | POLR3A | Pathogenic | 267608677 | RCV000024140; | N | MedGen:C1843200,OMIM:607694 | 10 | 79769277 | 79769277 | NM_007055.3:c.1909+18G>A | | NC_000010.10:g.79769277C>T | OMIM Allelic Variant:614258.0002 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.1907C>A (p.Ser636Tyr) | 11128 | POLR3A | Pathogenic | 267608676 | RCV000034142; | N | MedGen:C1843200,OMIM:607694 | 10 | 79769297 | 79769297 | NM_007055.3:c.1907C>A | NP_008986.2:p.Ser636Tyr | NC_000010.10:g.79769297G>T | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.1674C>G (p.Phe558Leu) | 11128 | POLR3A | Pathogenic | 267608668 | RCV000034141; | N | MedGen:C1843200,OMIM:607694 | 10 | 79769718 | 79769718 | NM_007055.3:c.1674C>G | NP_008986.2:p.Phe558Leu | NC_000010.10:g.79769718G>C | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.1114G>A (p.Asp372Asn) | 11128 | POLR3A | Pathogenic | 267608673 | RCV000034140; | N | MedGen:C1843200,OMIM:607694 | 10 | 79781375 | 79781375 | NM_007055.3:c.1114G>A | NP_008986.2:p.Asp372Asn | NC_000010.10:g.79781375C>T | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.418C>T (p.Arg140Ter) | 11128 | POLR3A | Pathogenic | 267608678 | RCV000024143; | N | MedGen:C1843200,OMIM:607694 | 10 | 79784801 | 79784801 | NM_007055.3:c.418C>T | NP_008986.2:p.Arg140Ter | NC_000010.10:g.79784801G>A | OMIM Allelic Variant:614258.0005 | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |
NM_007055.3(POLR3A):c.367_369delAAG (p.Lys123del) | 11128 | POLR3A | Likely pathogenic | 780755978 | RCV000198773; | N | MedGen:C1843200,OMIM:607694 | 10 | 79784850 | 79784852 | NM_007055.3:c.367_369delAAG | NP_008986.2:p.Lys123del | NC_000010.10:g.79784850_79784852delCTT | - | C1843200 607694 Hypomyelinating leukodystrophy 7 | | |