| - GRCh37:
- Chr4:56851491
- GRCh38:
- Chr4:55985325
| CEP135 | K608N | Microcephaly 8, primary, autosomal recessive | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56858216-56858220
- GRCh38:
- Chr4:55992050-55992054
| CEP135 | H661fs | Microcephaly 8, primary, autosomal recessive | Likely pathogenic
(Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56885633-56885636
- GRCh38:
- Chr4:56019467-56019470
| CEP135 | K1043fs | Microcephaly 8, primary, autosomal recessive | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56885621-56885624
- GRCh38:
- Chr4:56019455-56019458
| CEP135 | N1040fs | Microcephaly 8, primary, autosomal recessive | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56885607
- GRCh38:
- Chr4:56019441
| CEP135 | E1034fs | Microcephaly 8, primary, autosomal recessive | Likely pathogenic
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56823491
- GRCh38:
- Chr4:55957325
| CEP135 | D192V | not provided, Microcephaly 8, primary, autosomal recessive | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56819368
- GRCh38:
- Chr4:55953202
| CEP135 | R77S | Microcephaly 8, primary, autosomal recessive | Uncertain significance
(Jun 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56890692
- GRCh38:
- Chr4:56024526
| CEP135 | R1116* | Microcephaly 8, primary, autosomal recessive | Uncertain significance
(Jan 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56841034-56841037
- GRCh38:
- Chr4:55974868-55974871
| CEP135 | K459fs | Microcephaly 8, primary, autosomal recessive | Pathogenic
(May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56883874
- GRCh38:
- Chr4:56017708
| CEP135 | R955* | Microcephaly 8, primary, autosomal recessive | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr4:56878071
- GRCh38:
- Chr4:56011905
| CEP135 | R908* | not provided | Pathogenic
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56875953
- GRCh38:
- Chr4:56009787
| CEP135 | R797C | Microcephaly 8, primary, autosomal recessive | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr4:56885723
- GRCh38:
- Chr4:56019557
| CEP135 | | Microcephaly 8, primary, autosomal recessive | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr4:56885717
- GRCh38:
- Chr4:56019551
| CEP135 | K1071* | not provided, Microcephaly 8, primary, autosomal recessive | Pathogenic/Likely pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56883982
- GRCh38:
- Chr4:56017816
| CEP135 | M991V | not provided, Inborn genetic diseases, not specified
| Likely benign
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56831974
- GRCh38:
- Chr4:55965808
| CEP135 | R331S | Inborn genetic diseases, not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56876022
- GRCh38:
- Chr4:56009856
| CEP135 | N820D | Microcephaly 8, primary, autosomal recessive | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:56831855
- GRCh38:
- Chr4:55965689
| CEP135 | R292* | not provided, Microcephaly 8, primary, autosomal recessive | Pathogenic/Likely pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56883941-56883942
- GRCh38:
- Chr4:56017775-56017776
| CEP135 | L977fs | Microcephaly 8, primary, autosomal recessive | Pathogenic
(May 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:56841136
- GRCh38:
- Chr4:55974970
| CEP135 | | Microcephaly 8, primary, autosomal recessive | Pathogenic
(Mar 29, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr4:56877606
- GRCh38:
- Chr4:56011440
| CEP135 | V845A | not specified, Microcephaly 8, primary, autosomal recessive, not provided
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56825871
- GRCh38:
- Chr4:55959705
| CEP135 | V213A | not specified, not provided | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:56831951
- GRCh38:
- Chr4:55965785
| CEP135 | Q324fs | Microcephaly 8, primary, autosomal recessive | Pathogenic
(May 4, 2012) | no assertion criteria provided |