Examples of germline mutations in chromatin remodeling genes and their associated conditions
| Gene | Name of syndrome | Features of syndrome | Examples of cancers in patients with germline mutations | Comment |
| ARID1A | Coffin-Siris syndrome66 | ARID1A alterations were found in ~7% of Coffin-Siris syndrome66 Features of Coffin-Siris syndrome include developmental delays, hypoplastic digits, hirsutism, and microcephaly66 | Cancers not described | Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1 or SMARCE1 genes.66 |
| ARID1B | Coffin-Siris syndrome | ARID1B mutations were the most common cause of Coffin- Siris syndrome (51%–75%) | Cancers not described | |
| PBRM1 | Familial renal cell carcinoma | A case report showed a family with renal cell carcinoma with germline mutations of PBRM175 | Renal cell carcinoma | Germline PBRM1 truncating mutation (p. Asp1333Glyfs) associated with renal cell carcinoma75 |
| SMARCB1 | Coffin Siris syndrome Rhabdoid tumor predisposition syndrome (RTPS1)83 | Typically, infants and children present with cancers, while some affected patients present with benign schwannomas.96 | Rhabdoid tumors,83 96 | |
| SMARCA4 | Rhabdoid tumor predisposition syndrome (RTPS2)83 | Typically, infants and children present with cancers, and 11% of Coffin Siris82 syndrome have SMARCA4 germline mutations. | Rhabdoid tumors83 SCCOHT30 |
ARID1A, AT-rich Interactive Domain-containing protein; PBRM1, polybromo 1; SCCOHT, small cell carcinoma of the ovary hypercalcemic type; SMARCA4, SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin; SWI/SNF, mating-type SWItching (SWI) and sucrose fermentation (Sucrose Non-Fermenting - SNF).