An
Autosomal recessive
mode(s) within the
Metabolic disorders/Lysosomal storage disorders
category
Benign/Likely benign
1
Conflicting classifications of pathogenicity
2
Likely pathogenic
10
Pathogenic
23
Pathogenic/Likely pathogenic
5
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) | Single nucleotide variant | Chr5:151267341 | Likely pathogenic | Nonsense|intron variant | rs1057519021 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000405.5(GM2A):c.244-2A>T | Single nucleotide variant | Chr5:151266729 | Likely pathogenic | Splice acceptor variant | rs1057519022 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.617T>A (p.Val206Glu) | Single nucleotide variant | Chr15:72351188 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2140324697 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000520.6(HEXA):c.604C>T (p.His202Tyr) | Single nucleotide variant | Chr15:72351201 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2140324712 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs) | Deletion | Chr15:72345527 - 72345543 | Pathogenic | Frameshift variant|non-coding transcript variant | rs2140319638 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) | Single nucleotide variant | Chr15:72345518 | Pathogenic | Nonsense|non-coding transcript variant | rs1057519468 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) | Single nucleotide variant | Chr15:72345540 | Pathogenic | Missense variant|non-coding transcript variant | rs1057519467 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) | Single nucleotide variant | Chr15:72346296 | Likely pathogenic | Missense variant|non-coding transcript variant | rs121907978 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1349del (p.Ala450fs) | Deletion | Chr15:72346307 | Pathogenic | Frameshift variant|non-coding transcript variant | rs1057519466 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) | Single nucleotide variant | Chr15:72346598 | Likely pathogenic | Nonsense | rs1057519465 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) | Single nucleotide variant | Chr15:72347711 | Pathogenic | Missense variant | rs1057519464 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.898_905del (p.Phe300fs) | Deletion | Chr15:72349160 - 72349167 | Pathogenic | Frameshift variant|non-coding transcript variant | rs1057519463 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.805+1G>C | Single nucleotide variant | Chr15:72350517 | Pathogenic | Splice donor variant | rs121907980 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) | Single nucleotide variant | Chr15:72350518 | Likely pathogenic | Missense variant|non-coding transcript variant | rs121907954 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) | Single nucleotide variant | Chr15:72350535 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs1057519462 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000520.6(HEXA):c.637T>C (p.Tyr213His) | Single nucleotide variant | Chr15:72351168 | Pathogenic | Missense variant|non-coding transcript variant | rs1057519461 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.616G>C (p.Val206Leu) | Single nucleotide variant | Chr15:72351189 | Likely pathogenic | Missense variant|non-coding transcript variant | rs543071358 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) | Single nucleotide variant | Chr15:72353114 | Pathogenic | Missense variant|non-coding transcript variant | rs1057519460 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.460-1G>A | Single nucleotide variant | Chr15:72353179 | Likely pathogenic | Splice acceptor variant | rs764343937 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.459+4A>C | Single nucleotide variant | Chr15:72353687 | Pathogenic | Intron variant | rs1057519459 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.426del (p.Phe142fs) | Deletion | Chr15:72353724 | Pathogenic | Frameshift variant|non-coding transcript variant | rs1057519458 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) | Single nucleotide variant | Chr15:72356555 | Likely pathogenic | Nonsense|non-coding transcript variant | rs773446161 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.459+5G>A | Single nucleotide variant | Chr15:72353686 | Pathogenic/Likely pathogenic | Intron variant | rs762060470 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) | Single nucleotide variant | Chr15:72346235 | Pathogenic | Nonsense|non-coding transcript variant | rs762374961 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) | Single nucleotide variant | Chr15:72350614 | Pathogenic | Nonsense|non-coding transcript variant | rs150675340 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.672+30T>G | Single nucleotide variant | Chr15:72351103 | Benign/Likely benign | Intron variant | rs117160567 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) | Single nucleotide variant | Chr15:72349101 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs772180415 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) | Single nucleotide variant | Chr15:72349101 | Pathogenic | Missense variant|non-coding transcript variant | rs772180415 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) | Single nucleotide variant | Chr15:72346679 | Pathogenic | Missense variant | rs370266293 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) | Single nucleotide variant | Chr15:72356531 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs748190164 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1385A>T (p.Glu462Val) | Single nucleotide variant | Chr15:72346271 | Pathogenic | Missense variant|non-coding transcript variant | rs863225434 |
.FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.2T>C (p.Met1Thr) | Single nucleotide variant | Chr15:72375971 | Pathogenic | Missense variant|initiator_codon_variant|non-coding transcript variant | rs786204721 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) | Single nucleotide variant | Chr15:72344139 | Pathogenic | Nonsense | rs786204585 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.902T>G (p.Met301Arg) | Single nucleotide variant | Chr15:72349163 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs121907977 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) | Single nucleotide variant | Chr15:72353130 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs121907972 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000520.6(HEXA):c.1073+1G>A | Single nucleotide variant | Chr15:72348047 | Pathogenic/Likely pathogenic | Splice donor variant | rs76173977 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) | Single nucleotide variant | Chr15:72345477 | Pathogenic | Missense variant|non-coding transcript variant | rs121907966 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) | Single nucleotide variant | Chr15:72353129 | Pathogenic | Missense variant|non-coding transcript variant | rs121907957 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1496G>A (p.Arg499His) | Single nucleotide variant | Chr15:72345476 | Pathogenic | Missense variant|non-coding transcript variant | rs121907956 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) | Single nucleotide variant | Chr15:72353106 | Pathogenic | Missense variant|non-coding transcript variant | rs121907953 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) | Duplication | Chr15:72346579 - 72346580 | Pathogenic | Frameshift variant | rs387906309 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution