GDAP1
ganglioside induced differentiation associated protein 1
Summary
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
Known Variants447 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs78334365 | 8:75,262,297 | C/A | — | likely benign |
| rs112493177 | 8:75,262,372 | A/T | — | likely benign |
| rs73345366 | 8:75,262,511 | G/A | — | likely benign |
| rs4541908 | 8:75,262,536 | G/T | — | benign |
| rs146798895 | 8:75,262,566 | A/T | — | benign |
| rs188488037 | 8:75,262,677 | C/T | — | likely benign |
| rs371103821 | 8:75,262,678 | C/T | — | likely benign |
| rs760495614 | 8:75,262,693 | C/G | — | likely benign |
| rs1474390668 | 8:75,262,697 | A/G | — | pathogenic |
| rs1808792150 | 8:75,262,700 | G/A | — | uncertain significance |
| rs376868259 | 8:75,262,701 | C/G | — | uncertain significance |
| rs1563436826 | 8:75,262,702 | T/C | — | likely benign |
| rs2536722572 | 8:75,262,707 | G/A | — | uncertain significance |
| rs2131493453 | 8:75,262,709 | C/T | — | pathogenic |
| rs199612265 | 8:75,262,717 | G/A | — | likely benign |
| rs1586794015 | 8:75,262,718 | C/T | — | pathogenic |
| rs879253884 | 8:75,262,719 | A/G | — | uncertain significance |
| rs1808793958 | 8:75,262,721 | A/G | — | uncertain significance |
| rs1808794425 | 8:75,262,724 | G/A | — | uncertain significance |
| rs202010117 | 8:75,262,729 | C/G | — | conflicting classifications of pathogenicity |
| rs1240725448 | 8:75,262,733 | C/T | — | conflicting classifications of pathogenicity |
| rs143063749 | 8:75,262,735 | C/T | — | likely benign |
| rs749658930 | 8:75,262,741 | G/A | — | likely benign |
| rs1300726621 | 8:75,262,751 | A/G | — | uncertain significance |
| rs375536495 | 8:75,262,754 | G/A | — | uncertain significance |
| rs1367421978 | 8:75,262,757 | G/A | — | uncertain significance |
| rs863224875 | 8:75,262,758 | — | — | pathogenic |
| rs148197760 | 8:75,262,761 | C/G | — | uncertain significance |
| rs760748724 | 8:75,262,762 | G/A | — | likely benign |
| rs1406620213 | 8:75,262,766 | G/T | — | uncertain significance |
| rs142674939 | 8:75,262,768 | T/C | — | likely benign |
| rs761730309 | 8:75,262,771 | G/A | — | likely benign |
| rs765075797 | 8:75,262,773 | T/C | — | uncertain significance |
| rs1283049548 | 8:75,262,781 | T/G | — | uncertain significance |
| rs1563437000 | 8:75,262,782 | A/C | — | uncertain significance |
| rs896431562 | 8:75,262,785 | A/T | missense variant | pathogenic |
| rs555369956 | 8:75,262,786 | T/C | — | likely benign |
| rs121908112 | 8:75,262,788 | G/A | stop gained | pathogenic |
| rs970527964 | 8:75,262,792 | G/T | — | likely benign |
| rs1204477096 | 8:75,262,793 | C/T | — | uncertain significance |
| rs1586794273 | 8:75,262,797 | C/G | — | uncertain significance |
| rs7828201 | 8:75,262,798 | G/G | — | benign |
| rs2536723039 | 8:75,262,801 | C/T | — | likely benign |
| rs1448664085 | 8:75,262,802 | A/C | — | uncertain significance |
| rs2536723060 | 8:75,262,804 | C/A | — | uncertain significance |
| rs756121249 | 8:75,262,805 | T/A | missense variant | pathogenic |
| rs1267944999 | 8:75,262,807 | T/G | — | likely benign |
| rs761035569 | 8:75,262,808 | C/T | — | pathogenic |
| rs2536723078 | 8:75,262,809 | A/G | — | uncertain significance |
| rs1586794308 | 8:75,262,812 | A/G | — | likely pathogenic |
| rs1586794314 | 8:75,262,813 | G/C | — | uncertain significance |
| rs1808804404 | 8:75,262,814 | G/A | — | likely pathogenic |
| rs2536723107 | 8:75,262,816 | A/G | — | uncertain significance |
| rs371957814 | 8:75,262,823 | G/A | — | likely benign |
| rs202059380 | 8:75,262,825 | C/G | — | likely benign |
| rs376458436 | 8:75,262,832 | G/A | — | likely benign |
| rs4321999 | 8:75,262,841 | G/A | — | benign |
| rs4415302 | 8:75,263,057 | C/T | — | benign |
| rs181572426 | 8:75,263,063 | A/C | — | likely benign |
| rs12545409 | 8:75,263,152 | C/A | — | benign |
| rs3739345 | 8:75,263,276 | A/T | — | benign |
| rs116253195 | 8:75,263,422 | G/A | — | benign |
| rs757760120 | 8:75,263,493 | G/A | — | likely benign |
| rs1329769317 | 8:75,263,494 | T/C | — | likely benign |
| rs1808856117 | 8:75,263,500 | C/A | — | likely benign |
| rs2536724573 | 8:75,263,501 | T/G | — | uncertain significance |
| rs779388585 | 8:75,263,502 | C/G | — | likely benign |
| rs750762719 | 8:75,263,506 | C/G | — | uncertain significance |
| rs2536724594 | 8:75,263,508 | G/A | — | likely pathogenic |
| rs1031865271 | 8:75,263,511 | G/A | — | likely benign |
| rs1395874165 | 8:75,263,514 | C/T | — | likely benign |
| rs2536724673 | 8:75,263,530 | A/T | — | pathogenic |
| rs960211384 | 8:75,263,542 | T/C | — | uncertain significance |
| rs1413222465 | 8:75,263,544 | C/T | — | conflicting classifications of pathogenicity |
| rs746609932 | 8:75,263,548 | G/T | — | likely pathogenic |
| rs1441803924 | 8:75,263,552 | A/G | — | uncertain significance |
| rs138538469 | 8:75,263,556 | T/C | — | likely benign |
| rs1808860135 | 8:75,263,557 | G/A | — | uncertain significance |
| rs863224774 | 8:75,263,560 | A/C | — | conflicting classifications of pathogenicity |
| rs774799079 | 8:75,263,562 | T/G | — | uncertain significance |
| rs1202261025 | 8:75,263,569 | T/G | — | uncertain significance |
| rs1808861763 | 8:75,263,573 | G/A | — | uncertain significance |
| rs769632836 | 8:75,263,582 | A/G | — | conflicting classifications of pathogenicity |
| rs1808862287 | 8:75,263,584 | G/A | — | conflicting classifications of pathogenicity |
| rs2131496131 | 8:75,263,585 | A/G | — | uncertain significance |
| rs773136934 | 8:75,263,587 | C/T | — | likely pathogenic |
| rs1808863345 | 8:75,263,591 | G/T | — | conflicting classifications of pathogenicity |
| rs770714080 | 8:75,263,598 | G/A | — | uncertain significance |
| rs775739690 | 8:75,263,600 | G/T | — | uncertain significance |
| rs1219330507 | 8:75,263,606 | A/G | — | uncertain significance |
| rs760859999 | 8:75,263,607 | C/T | — | likely benign |
| rs761890773 | 8:75,263,616 | A/G | — | likely benign |
| rs1586795332 | 8:75,263,624 | C/T | — | uncertain significance |
| rs1185325806 | 8:75,263,629 | C/T | — | uncertain significance |
| rs2131496261 | 8:75,263,634 | C/T | — | likely benign |
| rs765664895 | 8:75,263,635 | C/A | — | uncertain significance |
| rs1429538040 | 8:75,263,636 | A/G | — | uncertain significance |
| rs1586795373 | 8:75,263,638 | G/A | — | uncertain significance |
| rs371138642 | 8:75,263,639 | G/C | — | uncertain significance |
| rs1808867656 | 8:75,263,641 | G/T | — | pathogenic |
Showing 100 of 447 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.