| - GRCh37:
- Chr9:130698059
- GRCh38:
- Chr9:127935780
| DPM2 | G36E, G66E | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699708
- GRCh38:
- Chr9:127937429
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700083
- GRCh38:
- Chr9:127937804
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698819
- GRCh38:
- Chr9:127936540
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699741
- GRCh38:
- Chr9:127937462
| DPM2 | T22I | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698042-130698043
- GRCh38:
- Chr9:127935763-127935764
| DPM2 | V72M, V42M | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700085
- GRCh38:
- Chr9:127937806
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700082
- GRCh38:
- Chr9:127937803
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699820
- GRCh38:
- Chr9:127937541
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698044
- GRCh38:
- Chr9:127935765
| DPM2 | Y71C, Y41C | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698945
- GRCh38:
- Chr9:127936666
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698019
- GRCh38:
- Chr9:127935740
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698875
- GRCh38:
- Chr9:127936596
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698928
- GRCh38:
- Chr9:127936649
| DPM2 | I4V, I34V | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699798
- GRCh38:
- Chr9:127937519
| DPM2 | T3M | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698861-130698862
- GRCh38:
- Chr9:127936582-127936583
| DPM2 | A26F, A56F | Congenital muscular dystrophy with intellectual disability and severe epilepsy, not provided | Uncertain significance
(Jan 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698948
- GRCh38:
- Chr9:127936669
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698848
- GRCh38:
- Chr9:127936569
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699767
- GRCh38:
- Chr9:127937488
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698942
- GRCh38:
- Chr9:127936663
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698850
- GRCh38:
- Chr9:127936571
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699740
- GRCh38:
- Chr9:127937461
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698813
- GRCh38:
- Chr9:127936534
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Oct 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699699
- GRCh38:
- Chr9:127937420
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698914
- GRCh38:
- Chr9:127936635
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700083
- GRCh38:
- Chr9:127937804
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699700
- GRCh38:
- Chr9:127937421
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698952
- GRCh38:
- Chr9:127936673
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698953
- GRCh38:
- Chr9:127936674
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Nov 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700094
- GRCh38:
- Chr9:127937815
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Feb 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698048
- GRCh38:
- Chr9:127935769
| DPM2 | S70P, S40P | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130216807-130953136
| PIP5KL1, PTGES2, NIBAN2, PTRH1, CFAP157, CIZ1, DPM2, EEIG1, AK1, BBLN, CDK9, ENG, FPGS, LCN2, LRSAM1, MIR2861, NAIF1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic
(Jul 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698904
- GRCh38:
- Chr9:127936625
| DPM2 | K12E, K42E | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699732
- GRCh38:
- Chr9:127937453
| DPM2 | T25S | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700091
- GRCh38:
- Chr9:127937812
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698844
- GRCh38:
- Chr9:127936565
| DPM2 | L32V, L62V | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699771
- GRCh38:
- Chr9:127937492
| DPM2 | G12D | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699773
- GRCh38:
- Chr9:127937494
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698926
- GRCh38:
- Chr9:127936647
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698884
- GRCh38:
- Chr9:127936605
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Feb 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699767
- GRCh38:
- Chr9:127937488
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698855
- GRCh38:
- Chr9:127936576
| DPM2 | G58D, G28D | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic
(Apr 28, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr9:130698889
- GRCh38:
- Chr9:127936610
| DPM2 | R47*, R17* | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic/Likely pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698877
- GRCh38:
- Chr9:127936598
| DPM2 | V21I, V51I | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698901
- GRCh38:
- Chr9:127936622
| DPM2 | Y13H, Y43H | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698067-130698068
- GRCh38:
- Chr9:127935788-127935789
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698917-130698920
- GRCh38:
- Chr9:127936638-127936641
| DPM2 | Q37fs, Q7fs | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698027
- GRCh38:
- Chr9:127935748
| DPM2 | K47E, K77E | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700092
- GRCh38:
- Chr9:127937813
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697987
- GRCh38:
- Chr9:127935708
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697877
- GRCh38:
- Chr9:127935598
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697770
- GRCh38:
- Chr9:127935491
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697597
- GRCh38:
- Chr9:127935318
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697491
- GRCh38:
- Chr9:127935212
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697472
- GRCh38:
- Chr9:127935193
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700622
- GRCh38:
- Chr9:127938343
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700366
- GRCh38:
- Chr9:127938087
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697369
- GRCh38:
- Chr9:127935090
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700307
- GRCh38:
- Chr9:127938028
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700183
- GRCh38:
- Chr9:127937904
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700094
- GRCh38:
- Chr9:127937815
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699740
- GRCh38:
- Chr9:127937461
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698938
- GRCh38:
- Chr9:127936659
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Feb 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698908
- GRCh38:
- Chr9:127936629
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Apr 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698943
- GRCh38:
- Chr9:127936664
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130216797-130953151
- GRCh38:
- Chr9:127454518-128190872
| ST6GALNAC6, STXBP1, TOR2A, TTC16, AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC126860771, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTGES2-AS1, PTRH1, SH2D3C, SLC25A25, SLC25A25-AS1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Oct 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698043-130698044
- GRCh38:
- Chr9:127935764-127935765
| DPM2 | Y71C, Y41C | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698921
- GRCh38:
- Chr9:127936642
| DPM2 | S36N, S6N | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699769
- GRCh38:
- Chr9:127937490
| DPM2 | L13fs | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698882
- GRCh38:
- Chr9:127936603
| DPM2 | Y49C, Y19C | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699790
- GRCh38:
- Chr9:127937511
| DPM2 | D6N | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698883
- GRCh38:
- Chr9:127936604
| DPM2 | Y49N, Y19N | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698874
- GRCh38:
- Chr9:127936595
| DPM2 | A52T, A22T | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698048
- GRCh38:
- Chr9:127935769
| DPM2 | S70A, S40A | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700085
- GRCh38:
- Chr9:127937806
| DPM2 | | not specified, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130699742
- GRCh38:
- Chr9:127937463
| DPM2 | T22A | not provided, not specified, Congenital muscular dystrophy with intellectual disability and severe epilepsy
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130700727
- GRCh38:
- Chr9:127938448
| DPM2 | | not provided, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign
(Jun 18, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130700711
- GRCh38:
- Chr9:127938432
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700686
- GRCh38:
- Chr9:127938407
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700528
- GRCh38:
- Chr9:127938249
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700481
- GRCh38:
- Chr9:127938202
| DPM2 | | not provided, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Likely benign
(Jun 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130700418
- GRCh38:
- Chr9:127938139
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700310
- GRCh38:
- Chr9:127938031
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700251
- GRCh38:
- Chr9:127937972
| DPM2 | | not provided, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130700240
- GRCh38:
- Chr9:127937961
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700187
- GRCh38:
- Chr9:127937908
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130700104
- GRCh38:
- Chr9:127937825
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130699718
- GRCh38:
- Chr9:127937439
| DPM2 | L30V | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698064
- GRCh38:
- Chr9:127935785
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Conflicting interpretations of pathogenicity
(Oct 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:130697952
- GRCh38:
- Chr9:127935673
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697448
- GRCh38:
- Chr9:127935169
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130697374
- GRCh38:
- Chr9:127935095
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:130698029
- GRCh38:
- Chr9:127935750
| DPM2 | T76S, T46S | not specified, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698043
- GRCh38:
- Chr9:127935764
| DPM2 | | not specified, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698845
- GRCh38:
- Chr9:127936566
| DPM2 | | not specified, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130698851
- GRCh38:
- Chr9:127936572
| DPM2 | | not specified, Congenital muscular dystrophy with intellectual disability and severe epilepsy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130699803
- GRCh38:
- Chr9:127937524
| DPM2 | | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic
(Oct 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr9:130699738
- GRCh38:
- Chr9:127937459
| DPM2 | Y23C | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic
(Oct 1, 2012) | no assertion criteria provided |