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Gene Mutations
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| Records Return:
(8)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| TCF4 | 602272 | 610954 | 18q21.2 | ARG174TER; c.520C>T | | Pitt-Hopkins Syndrome | 3 |
| TCF4 | 602272 | 610954 | 18q21.2 | Arg262ProfsX3 (c.784-785insCA) | | PITT-HOPKINS SYNDROME; PTHS | 1 |
| TCF4 | 602272 | 610954 | 18q21.2 | ARG580TRP; c.1738C>T | 0001 | Pitt-Hopkins Syndrome | 1 |
| TCF4 | 602272 | 610954 | 18q21.2 | c.1297-1G>T | | Pitt-Hopkins Syndrome | 1 |
| TCF4 | 602272 | 610954 | 18q21.2 | c.1841C>T | | Pitt-Hopkins Syndrome | 2 |
| TCF4 | 602272 | 610954 | 18q21.2 | c.469delC (p.Arg157Glufs*77) | | PITT-HOPKINS SYNDROME | 1 |
| TCF4 | 602272 | 610954 | 18q21.2 | c.512delA | | PITT-HOPKINS SYNDROME; PTHS | 1 |
| TCF4 | 602272 | 610954 | 18q21.2 | c.922+1G>A | | PITT-HOPKINS SYNDROME | 3 |
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