| - GRCh37:
- Chr20:44592174
- GRCh38:
- Chr20:45963535
| ZNF335 | D491H | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr20:44589289
- GRCh38:
- Chr20:45960650
| ZNF335 | T583M | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr20:44577822-44577823
- GRCh38:
- Chr20:45949183-45949184
| ZNF335 | H1296fs | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Jan 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44579150
- GRCh38:
- Chr20:45950511
| ZNF335 | R1092W | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Oct 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44579218
- GRCh38:
- Chr20:45950579
| ZNF335 | H1069R | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr20:44588031
- GRCh38:
- Chr20:45959392
| ZNF335 | R688W | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44588046
- GRCh38:
- Chr20:45959407
| ZNF335 | C683R | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44580960-44580961
- GRCh38:
- Chr20:45952321-45952322
| ZNF335 | S1007fs | Microcephalic primordial dwarfism due to ZNF335 deficiency | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44596231
- GRCh38:
- Chr20:45967592
| ZNF335 | R286Q | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Conflicting interpretations of pathogenicity
(Nov 15, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:44577842
- GRCh38:
- Chr20:45949203
| ZNF335 | Q1290* | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44589503
- GRCh38:
- Chr20:45960864
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Apr 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44592137
- GRCh38:
- Chr20:45963498
| ZNF335 | R503H | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Feb 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44588109
- GRCh38:
- Chr20:45959470
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44594228
- GRCh38:
- Chr20:45965589
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44577901
- GRCh38:
- Chr20:45949262
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign/Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578844
- GRCh38:
- Chr20:45950205
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44592364
- GRCh38:
- Chr20:45963725
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44582530
- GRCh38:
- Chr20:45953891
| ZNF335 | P834S | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44581084
- GRCh38:
- Chr20:45952445
| ZNF335 | C964Y | Inborn genetic diseases, Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided
| Uncertain significance
(Aug 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578999
- GRCh38:
- Chr20:45950360
| ZNF335 | G1116R | Microcephalic primordial dwarfism due to ZNF335 deficiency, Aminoacylase 1 deficiency | Pathogenic/Likely pathogenic
(Mar 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr20:44589442
- GRCh38:
- Chr20:45960803
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44578607
- GRCh38:
- Chr20:45949968
| ZNF335 | Q1197* | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(May 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44589091
- GRCh38:
- Chr20:45960452
| ZNF335 | R619H | Microcephalic primordial dwarfism due to ZNF335 deficiency, Inborn genetic diseases | Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44580817
- GRCh38:
- Chr20:45952178
| ZNF335 | P1053L | not provided | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44577991
- GRCh38:
- Chr20:45949352
| ZNF335 | P1267Q | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578215-44578216
- GRCh38:
- Chr20:45949576-45949577
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Benign/Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578991
- GRCh38:
- Chr20:45950352
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578707
- GRCh38:
- Chr20:45950068
| ZNF335 | | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44599947
- GRCh38:
- Chr20:45971308
| ZNF335 | V35L | Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44598297
- GRCh38:
- Chr20:45969658
| ZNF335 | P79S | Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44592204
- GRCh38:
- Chr20:45963565
| ZNF335 | R481G | not provided, Inborn genetic diseases, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44592140
- GRCh38:
- Chr20:45963501
| ZNF335 | Y502C | Microcephalic primordial dwarfism due to ZNF335 deficiency | Pathogenic
(Feb 18, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr20:44592246
- GRCh38:
- Chr20:45963607
| ZNF335 | C467R | Microcephalic primordial dwarfism due to ZNF335 deficiency | Pathogenic
(Feb 19, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr20:44596461-44596463
- GRCh38:
- Chr20:45967822-45967824
| ZNF335 | V242del | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Conflicting interpretations of pathogenicity
(Apr 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:44578714
- GRCh38:
- Chr20:45950075
| ZNF335 | | not specified, Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided
| Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44577623
- GRCh38:
- Chr20:45948984
| ZNF335 | E1333G | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Uncertain significance
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44594258
- GRCh38:
- Chr20:45965619
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44577896-44577897
- GRCh38:
- Chr20:45949257-45949258
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency, not specified
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44589117
- GRCh38:
- Chr20:45960478
| ZNF335 | | not specified, not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44596379
- GRCh38:
- Chr20:45967740
| ZNF335 | R270C | not specified, not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:44581304-44581307
- GRCh38:
- Chr20:45952665-45952668
| ZNF335 | S915fs | Microcephalic primordial dwarfism due to ZNF335 deficiency | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578004
- GRCh38:
- Chr20:45949365
| ZNF335 | E1263* | Microcephalic primordial dwarfism due to ZNF335 deficiency | Pathogenic
(Dec 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44582511-44582512
- GRCh38:
- Chr20:45953872-45953873
| ZNF335 | T840fs | Microcephalic primordial dwarfism due to ZNF335 deficiency | Likely pathogenic
(Jul 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr20:44587920-44587922
- GRCh38:
- Chr20:45959281-45959283
| ZNF335 | F724del | not provided, not specified | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44596207
- GRCh38:
- Chr20:45967568
| ZNF335 | S294T | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44596262
- GRCh38:
- Chr20:45967623
| ZNF335 | A276T | not specified, not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44596276
- GRCh38:
- Chr20:45967637
| ZNF335 | | not specified, not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44596545
- GRCh38:
- Chr20:45967906
| ZNF335 | | not specified, Microcephalic primordial dwarfism due to ZNF335 deficiency, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578674
- GRCh38:
- Chr20:45950035
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578689
- GRCh38:
- Chr20:45950050
| ZNF335 | | not specified, not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44578961
- GRCh38:
- Chr20:45950322
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44580788
- GRCh38:
- Chr20:45952149
| ZNF335 | | not specified, not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44580795
- GRCh38:
- Chr20:45952156
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44581348
- GRCh38:
- Chr20:45952709
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44582435
- GRCh38:
- Chr20:45953796
| ZNF335 | D865E | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44587830
- GRCh38:
- Chr20:45959191
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44587926
- GRCh38:
- Chr20:45959287
| ZNF335 | F723V | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44599839
- GRCh38:
- Chr20:45971200
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44590732
- GRCh38:
- Chr20:45962093
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44592636
- GRCh38:
- Chr20:45963997
| ZNF335 | | not provided, Microcephalic primordial dwarfism due to ZNF335 deficiency | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:44579092
- GRCh38:
- Chr20:45950453
| ZNF335 | R1111H | Microcephalic primordial dwarfism due to ZNF335 deficiency | Pathogenic
(Nov 21, 2012) | no assertion criteria provided |