| - GRCh37:
- Chr22:19504052-19504055
- GRCh38:
- Chr22:19516529-19516532
| CDC45 | K436fs, K470fs, K482fs, K514fs | Meier-Gorlin syndrome 7 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr22:19504134
- GRCh38:
- Chr22:19516611
| CDC45 | I497V, I509V, I463V, I541V | Meier-Gorlin syndrome 7, not provided | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19495353
- GRCh38:
- Chr22:19507830
| CDC45 | R373W, R295W, R341W, R329W | Meier-Gorlin syndrome 7, not provided | Conflicting interpretations of pathogenicity
(Apr 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:19470333-19470334
- GRCh38:
- Chr22:19482810-19482811
| CDC45 | N111fs, N99fs | Meier-Gorlin syndrome 7 | Pathogenic
(Jun 8, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19504096
- GRCh38:
- Chr22:19516573
| CDC45 | P528L, P484L, P496L, P450L | Meier-Gorlin syndrome 7, not provided | Uncertain significance
(Jun 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19502519
- GRCh38:
- Chr22:19514996
| CDC45 | P495L, P451L, P463L, P417L | Meier-Gorlin syndrome 7, not provided | Conflicting interpretations of pathogenicity
(Mar 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:19492971
- GRCh38:
- Chr22:19505448
| CDC45 | S296Y, S218Y, S252Y, S264Y | Meier-Gorlin syndrome 7 | Uncertain significance
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh38:
- Chr22:19482828-19494326
| CDC45 | | Meier-Gorlin syndrome 7 | Pathogenic
(Oct 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr22:19494977
- GRCh38:
- Chr22:19507454
| CDC45 | A298V, A330V, A252V, A286V | Meier-Gorlin syndrome 7 | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19470341
- GRCh38:
- Chr22:19482818
| CDC45 | | Meier-Gorlin syndrome 7 | Uncertain significance
(Jun 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19468567
- GRCh38:
- Chr22:19481044
| CDC45 | Q68R, Q56R | Meier-Gorlin syndrome 7 | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19506390
- GRCh38:
- Chr22:19518867
| CDC45 | R554W, R586W, R542W, R508W | Meier-Gorlin syndrome 7, not provided | Conflicting interpretations of pathogenicity
(Aug 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:19471511
- GRCh38:
- Chr22:19483988
| CDC45 | R157C, R111C, R145C | Meier-Gorlin syndrome 7, not provided | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:19470234
- GRCh38:
- Chr22:19482711
| CDC45 | N76H, N64H | Meier-Gorlin syndrome 7 | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19470326
- GRCh38:
- Chr22:19482803
| CDC45 | | not provided | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19486647
- GRCh38:
- Chr22:19499124
| CDC45 | D226G, D258G, D180G, D214G | Meier-Gorlin syndrome 7 | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |