An
Autosomal dominant, Autosomal recessive, X-linked dominant
mode(s) within the
Neurodegenerative disorders
category
association
1
Conflicting classifications of pathogenicity
5
Likely pathogenic
5
Pathogenic
10
Pathogenic/Likely pathogenic
6
Uncertain significance
4
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_015656.1(KIF26A):c.[1378delG];[4925C>T] | CompoundHeterozygote | Chr: | association |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
||
| NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter) | Single nucleotide variant | Chr10:95626744 | Pathogenic/Likely pathogenic | Nonsense | rs775201668 |
.Department of Biochemistry, All India Institute of Medical Sciences, Kalyani |
| NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) | Single nucleotide variant | Chr1:109627793 | Conflicting classifications of pathogenicity | Missense variant | rs776868175 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004722.4(AP4M1):c.351+1G>A | Single nucleotide variant | Chr7:100102961 | Likely pathogenic | Splice donor variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) | Single nucleotide variant | Chr14:31072968 | Pathogenic/Likely pathogenic | Nonsense | rs200440467 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_031448.6(C19orf12):c.118T>G (p.Phe40Val) | Single nucleotide variant | Chr19:29708296 | Conflicting classifications of pathogenicity | Missense variant|5 prime UTR variant|intron variant | rs2513299932 |
.Institute of Bioinformatics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro) | Single nucleotide variant | Chr19:29708262 | Likely pathogenic | Missense variant|5 prime UTR variant|intron variant | rs2145639419 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_031448.6(C19orf12):c.161-2del | Deletion | Chr19:29702979 | Conflicting classifications of pathogenicity | Splice acceptor variant | rs1352744778 |
.Institute of Bioinformatics |
| NM_031448.6(C19orf12):c.-2C>T | Single nucleotide variant | Chr19:29708415 | Pathogenic/Likely pathogenic | 5 prime UTR variant|intron variant | rs397514477 |
.Institute of Bioinformatics |
| NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val) | Single nucleotide variant | Chr4:107949416 | Conflicting classifications of pathogenicity | Missense variant | rs775157727 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) | Single nucleotide variant | Chr4:107949457 | Pathogenic | Nonsense | rs766380148 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001160148.2(DDHD1):c.340T>C (p.Ser114Pro) | Single nucleotide variant | Chr14:53152759 | Uncertain significance | Missense variant | rs756788863 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup) | Microsatellite | Chr14:53153031 - 53153032 | Uncertain significance | Inframe_insertion | rs752119831 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_015214.3(DDHD2):c.1396G>T (p.Glu466Ter) | Single nucleotide variant | Chr8:38251963 | Likely pathogenic | Nonsense|non-coding transcript variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs) | Deletion | Chr1:228158895 - 228158905 | Pathogenic | Frameshift variant | rs2124967068 |
.Lifecell International Pvt. Ltd |
| NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys) | Single nucleotide variant | Chr2:240773254 | Conflicting classifications of pathogenicity | Missense variant | rs879254004 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000533.5(PLP1):c.2T>G (p.Met1Arg) | Single nucleotide variant | ChrX:103776997 | Pathogenic | Missense variant|initiator_codon_variant | rs864622194 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_007055.4(POLR3A):c.1771-7C>G | Single nucleotide variant | Chr10:78009682 | Pathogenic/Likely pathogenic | Intron variant | rs201314157 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000533.5(PLP1):c.365A>G (p.Lys122Arg) | Single nucleotide variant | ChrX:103786638 | Likely pathogenic | Missense variant|intron variant | rs1135401759 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_003105.6(SORL1):c.1211+1G>A | Single nucleotide variant | Chr11:121514322 | Pathogenic | Splice donor variant | rs2496816791 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_014946.4(SPAST):c.631G>A (p.Val211Ile) | Single nucleotide variant | Chr2:32098840 | Uncertain significance | Missense variant|intron variant | rs143003434 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_025137.4(SPG11):c.2621-1G>A | Single nucleotide variant | Chr15:44620404 | Pathogenic | Splice acceptor variant | rs2505543230 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_025137.4(SPG11):c.6871dup (p.Cys2291fs) | Duplication | Chr15:44565981 - 44565982 | Likely pathogenic | Frameshift variant | rs2505173672 |
.Lifecell International Pvt. Ltd |
| NM_025137.4(SPG11):c.5528del (p.Phe1843fs) | Deletion | Chr15:44584152 | Pathogenic | Frameshift variant | rs2505291205 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_025137.4(SPG11):c.6778C>T (p.Gln2260Ter) | Single nucleotide variant | Chr15:44566282 | Pathogenic | Nonsense | rs2140914403 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_025137.4(SPG11):c.442+5G>T | Single nucleotide variant | Chr15:44660427 | Uncertain significance | Intron variant | rs752482400 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025137.4(SPG11):c.2716del (p.Gln906fs) | Deletion | Chr15:44620308 | Pathogenic | Frameshift variant | rs312262747 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) | Single nucleotide variant | Chr15:44626429 | Pathogenic/Likely pathogenic | Nonsense | rs312262737 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025137.4(SPG11):c.733_734del (p.Met245fs) | Deletion | Chr15:44657230 - 44657231 | Pathogenic | Frameshift variant | rs312262720 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) | Single nucleotide variant | Chr16:89556933 | Pathogenic/Likely pathogenic | 3 prime UTR variant|missense variant | rs752623413 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) | Deletion | Chr9:34241450 - 34241451 | Pathogenic | Frameshift variant|non-coding transcript variant | rs1563920252 |
.Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution