| - GRCh37:
- Chr12:32873627
- GRCh38:
- Chr12:32720693
| DNM1L | S270T, S54T, S257T | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr12:32854422
- GRCh38:
- Chr12:32701488
| DNM1L | T59I | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Jul 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32858760
- GRCh38:
- Chr12:32705826
| DNM1L | L17fs, P85fs | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:32854361
- GRCh38:
- Chr12:32701427
| DNM1L | S39R | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32884414
- GRCh38:
- Chr12:32731480
| DNM1L | I239N, I442N, I455N | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Mar 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32866257
- GRCh38:
- Chr12:32713323
| DNM1L | M191V, M204V | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32863921
- GRCh38:
- Chr12:32710987
| DNM1L | T143R, T156R | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Aug 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32884336
- GRCh38:
- Chr12:32731402
| DNM1L | L213P, L416P, L429P | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32884378
- GRCh38:
- Chr12:32731444
| DNM1L | R227H, R430H, R443H | Optic atrophy 5, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32890097
- GRCh38:
- Chr12:32737163
| DNM1L | | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Optic atrophy 5, not provided
| Likely pathogenic
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32895563
- GRCh38:
- Chr12:32742629
| DNM1L | K476Q, K642Q, K653Q, K655Q, K668Q, K679Q, K681Q, K692Q | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32884316-32884317
- GRCh38:
- Chr12:32731382-32731383
| DNM1L | E207fs, E410fs, E423fs | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32854422
- GRCh38:
- Chr12:32701488
| DNM1L | T59N | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:32866191
- GRCh38:
- Chr12:32713257
| DNM1L | L169F, L182F | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Jan 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32884317
- GRCh38:
- Chr12:32731383
| DNM1L | E207K, E410K, E423K | Inborn genetic diseases | Likely pathogenic
(Aug 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32883955
- GRCh38:
- Chr12:32731021
| DNM1L | G160S, G363S, G376S | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32854361
- GRCh38:
- Chr12:32701427
| DNM1L | S39G | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Pathogenic
(Sep 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32861133
- GRCh38:
- Chr12:32708199
| DNM1L | T115R, T128R | Inborn genetic diseases, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Conflicting interpretations of pathogenicity
(Dec 18, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32893373
- GRCh38:
- Chr12:32740439
| DNM1L | R602W, R641W, R436W, R613W, R615W, R628W, R639W, R652W | not provided, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Dec 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32893112
- GRCh38:
- Chr12:32740178
| DNM1L | K405Q, K582Q, K610Q, K571Q, K597Q, K608Q, K621Q, K584Q | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32890070
- GRCh38:
- Chr12:32737136
| DNM1L | L524S, L537S, L321S | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32883976
- GRCh38:
- Chr12:32731042
| DNM1L | F167L, F383L, F370L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32873619-32873620
- GRCh38:
- Chr12:32720685-32720686
| DNM1L | K53fs, K256fs, K269fs | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Optic atrophy 5 | Pathogenic
(Oct 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32890912
- GRCh38:
- Chr12:32737978
| DNM1L | | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, not provided, Optic atrophy 5
| Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32895600
- GRCh38:
- Chr12:32742666
| DNM1L | Y691C, Y667C, Y680C, Y488C, Y654C, Y704C, Y665C, Y693C | Optic atrophy 5, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
| Pathogenic/Likely pathogenic
(Feb 14, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:45893514
- GRCh38:
- Chr17:47816148
| OSBPL7 | D360N | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Mar 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:95276922
- GRCh38:
- Chr10:93517165
| CEP55 | I304L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Mar 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32832322-32832325
- GRCh38:
- Chr12:32679388-32679391
| DNM1L | | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, not provided | Conflicting interpretations of pathogenicity
(Sep 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32884003
- GRCh38:
- Chr12:32731069
| DNM1L | E379K, E176K, E392K | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Jun 23, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr12:32896366
- GRCh38:
- Chr12:32743432
| YARS2, DNM1L | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Optic atrophy 5, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Benign/Likely benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32896365
- GRCh38:
- Chr12:32743431
| DNM1L, YARS2 | | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Optic atrophy 5, not provided,
Myopathy, lactic acidosis, and sideroblastic anemia, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Benign/Likely benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32875406
- GRCh38:
- Chr12:32722472
| DNM1L | | not specified, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Optic atrophy 5,
not provided | Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32860302
- GRCh38:
- Chr12:32707368
| DNM1L | G29E | Optic atrophy 5, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, not provided,
not specified | Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32854366
- GRCh38:
- Chr12:32701432
| DNM1L | | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Optic atrophy 5, not specified,
not provided | Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32875536
- GRCh38:
- Chr12:32722602
| DNM1L | G350R, G363R, G147R | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Uncertain significance
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32854352
- GRCh38:
- Chr12:32701418
| DNM1L | S36G | not provided | Pathogenic
(Sep 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32861134-32861135
- GRCh38:
- Chr12:32708200-32708201
| DNM1L | E129fs, E116fs | not provided, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Conflicting interpretations of pathogenicity
(Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32858768-32858769
- GRCh38:
- Chr12:32705834-32705835
| DNM1L | W88fs, H19fs | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Pathogenic
(Aug 25, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr12:32883952
- GRCh38:
- Chr12:32731018
| DNM1L | G362S, G375S, G159S | not provided, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Pathogenic
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32883953
- GRCh38:
- Chr12:32731019
| DNM1L | G362D, G159D, G375D | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic
(Jan 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32884426
- GRCh38:
- Chr12:32731492
| DNM1L | C446F, C243F, C459F | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr12:32884296
- GRCh38:
- Chr12:32731362
| DNM1L | R403C, R416C, R200C | not provided, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1,
Optic atrophy 5, Inborn genetic diseases | Pathogenic
(Aug 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32861094
- GRCh38:
- Chr12:32708160
| DNM1L | T102M, T115M | Inborn genetic diseases, Optic atrophy 5, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1,
not provided | Uncertain significance
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32893324
- GRCh38:
- Chr12:32740390
| DNM1L | | not provided, Optic atrophy 5, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1,
not specified | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32893124
- GRCh38:
- Chr12:32740190
| DNM1L | I612F, I409F, I601F, I588F, I575F, I586F, I614F, I625F | not provided, Inborn genetic diseases, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1,
not specified | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:32873579
- GRCh38:
- Chr12:32720645
| DNM1L | | Optic atrophy 5, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, not specified,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32884052
- GRCh38:
- Chr12:32731118
| DNM1L | A395D, A408D, A192D | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | Pathogenic
(Oct 15, 2010) | no assertion criteria provided |