RUSC2 Chromosome 9
RUN and SH3 domain containing 2
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What This Gene Does
This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]
Associated Conditions (2)
Intellectual disability
autosomal recessive 61
Key Variants
RS149291812
Conflicting classifications of pathogenicity
Health Risk
RS200002716
Conflicting classifications of pathogenicity
Health Risk
RS200295038
Conflicting classifications of pathogenicity
Health Risk
RS200605865
Conflicting classifications of pathogenicity
Health Risk
RS200887792
Conflicting classifications of pathogenicity
Health Risk
RS369185817
Conflicting classifications of pathogenicity
Health Risk
RS563315271
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 61, Intellectual disability
Health Risk
RS61740253
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 61, Intellectual disability
Health Risk
RS772603148
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 61, Intellectual disability
Health Risk
RS777691017
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 61, Intellectual disability
Health Risk
RS781773351
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 61, Intellectual disability
Health Risk
RS1372741759
Likely pathogenic
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149291812 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200002716 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200295038 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200605865 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200887792 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369185817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563315271 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS61740253 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS772603148 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS777691017 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS781773351 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS1372741759 | Health Risk | Likely pathogenic | — |
| RS1821779826 | Health Risk | Likely pathogenic | — |
| RS2490406268 | Health Risk | Likely pathogenic | — |
| RS2490409243 | Health Risk | Likely pathogenic | — |
| RS2490411094 | Health Risk | Likely pathogenic | — |
| RS765514069 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS1025758355 | Health Risk | Pathogenic | — |
| RS1225310096 | Health Risk | Pathogenic | — |
| RS1228929788 | Health Risk | Pathogenic | — |
| RS1265683288 | Health Risk | Pathogenic | — |
| RS1289887836 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS1402086660 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS144693880 | Health Risk | Pathogenic | — |
| RS1554645052 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 61, Intellectual disability |
| RS1822010348 | Health Risk | Pathogenic | — |
| RS2131694424 | Health Risk | Pathogenic | — |
| RS2131695601 | Health Risk | Pathogenic | — |
| RS2131706613 | Health Risk | Pathogenic | — |
| RS2131706815 | Health Risk | Pathogenic | — |
| RS2131707574 | Health Risk | Pathogenic | — |
| RS2132552044 | Health Risk | Pathogenic | — |
| RS2132552420 | Health Risk | Pathogenic | — |
| RS2132553356 | Health Risk | Pathogenic | — |
| RS2490379655 | Health Risk | Pathogenic | — |
| RS2490401718 | Health Risk | Pathogenic | — |
| RS2490404732 | Health Risk | Pathogenic | — |
| RS2490405029 | Health Risk | Pathogenic | — |
| RS2490405997 | Health Risk | Pathogenic | — |
| RS2490413005 | Health Risk | Pathogenic | — |
| RS2490416706 | Health Risk | Pathogenic | — |
| RS2490416737 | Health Risk | Pathogenic | — |
| RS2490416981 | Health Risk | Pathogenic | — |
| RS2490417765 | Health Risk | Pathogenic | — |
| RS2490418074 | Health Risk | Pathogenic | — |
| RS2490418081 | Health Risk | Pathogenic | — |
| RS1228330473 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 61, Intellectual disability |