| - GRCh37:
- Chr2:74141825
- GRCh38:
- Chr2:73914698
| ACTG2 | R168L, R211L | Visceral myopathy 1 | Pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74140750
- GRCh38:
- Chr2:73913623
| ACTG2 | R154T, R197T | Visceral myopathy 1 | Likely pathogenic
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74129538
- GRCh38:
- Chr2:73902411
| ACTG2 | Q60E | Visceral myopathy 1 | Uncertain significance
(Oct 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74128391
- GRCh38:
- Chr2:73901264
| ACTG2 | | not provided, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74135797
- GRCh38:
- Chr2:73908670
| ACTG2 | | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1 | Benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74128433
- GRCh38:
- Chr2:73901306
| ACTG2 | | not provided, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74146602
- GRCh38:
- Chr2:73919475
| ACTG2 | G301A, G344A | Visceral myopathy 1 | Uncertain significance
(Dec 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74141807
- GRCh38:
- Chr2:73914680
| ACTG2 | A162D, A205D | Visceral myopathy 1 | Uncertain significance
(Dec 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74146577
- GRCh38:
- Chr2:73919450
| ACTG2 | R336W, R293W | Visceral myopathy 1 | Uncertain significance
(Apr 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:74140748
- GRCh38:
- Chr2:73913621
| ACTG2 | E196D, E153D | Visceral myopathy 1 | Likely pathogenic
(Apr 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:74136261
- GRCh38:
- Chr2:73909134
| ACTG2 | T106R, T149R | Visceral myopathy 1 | Uncertain significance
(Apr 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:74128561
- GRCh38:
- Chr2:73901434
| ACTG2 | H41Q | Visceral myopathy 1 | Uncertain significance
(Apr 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:74140749-74140936
- GRCh38:
- Chr2:73913622-73913809
| ACTG2 | | Visceral myopathy 1 | Likely pathogenic
(Oct 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:35177459-35178246
| MYL9 | | Visceral myopathy 1 | Uncertain significance
(Feb 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:35173467-35173475
- GRCh38:
- Chr20:36545064-36545072
| DLGAP4-AS1, MYL9 | | Visceral myopathy 1 | Uncertain significance
(Feb 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74135892
- GRCh38:
- Chr2:73908765
| ACTG2 | N116K, N73K | Visceral myopathy 1 | Likely pathogenic
(Jan 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74135898
- GRCh38:
- Chr2:73908771
| ACTG2 | | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74129825
- GRCh38:
- Chr2:73902698
| ACTG2 | | Visceral myopathy 1 | Uncertain significance
(Sep 30, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:74129548
- GRCh38:
- Chr2:73902421
| ACTG2 | R63Q | Visceral myopathy 1 | Pathogenic
(Sep 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74128554
- GRCh38:
- Chr2:73901427
| ACTG2 | P39L | Visceral myopathy 1 | Pathogenic
(Oct 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74135881
- GRCh38:
- Chr2:73908754
| ACTG2 | P70A, P113A | Visceral myopathy 1 | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15917235
- GRCh38:
- Chr16:15823378
| MYH11 | P127S | Visceral myopathy 1 | Likely pathogenic
(Jan 17, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:74128505
- GRCh38:
- Chr2:73901378
| ACTG2 | A23T | Visceral myopathy 1 | Uncertain significance
(Jun 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74141825
- GRCh38:
- Chr2:73914698
| ACTG2 | R211Q, R168Q | Visceral myopathy 1, not provided | Pathogenic/Likely pathogenic
(Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:35177147-35184110
- GRCh38:
- Chr20:36548744-36555707
| DLGAP4-AS1, MYL9 | | Visceral myopathy 1 | Likely pathogenic
(Aug 31, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr3:123382947
- GRCh38:
- Chr3:123664100
| MYLK | | Visceral myopathy 1 | Pathogenic
(May 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74140744
- GRCh38:
- Chr2:73913617
| ACTG2 | T195I, T152I | not provided | Pathogenic
(May 26, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74140773
- GRCh38:
- Chr2:73913646
| ACTG2 | A205T, A162T | Visceral myopathy 1 | Pathogenic
(Aug 21, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr3:123383092-123383093
- GRCh38:
- Chr3:123664245-123664246
| MYLK | E1213fs, E1282fs, E1106fs | Visceral myopathy 1, Megacystis, microcolon, hypoperistalsis syndrome | Pathogenic
(Nov 7, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:201869033
- GRCh38:
- Chr1:201899905
| LMOD1 | R370* | Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Visceral myopathy 1 | Pathogenic
(Jun 2, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:74140753
- GRCh38:
- Chr2:73913626
| ACTG2 | G198D, G155D | Visceral myopathy 1 | Pathogenic
(Feb 17, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74129825
- GRCh38:
- Chr2:73902698
| ACTG2 | | Visceral myopathy 1 | Pathogenic
(Mar 27, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74129547
- GRCh38:
- Chr2:73902420
| ACTG2 | R63G | Visceral myopathy 1 | Pathogenic
(Dec 20, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74129494
- GRCh38:
- Chr2:73902367
| ACTG2 | M45T | Visceral myopathy 1 | Pathogenic
(Mar 27, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74141963
- GRCh38:
- Chr2:73914836
| ACTG2 | R257H, R214H | Visceral myopathy 1, Inborn genetic diseases, not provided,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Pathogenic
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74136258
- GRCh38:
- Chr2:73909131
| ACTG2 | R148L, R105L | Visceral myopathy 1 | Pathogenic/Likely pathogenic
(Jul 15, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:74143711-74143712
- GRCh38:
- Chr2:73916584-73916585
| ACTG2 | G269E, G226E | Visceral myopathy 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:15826474
- GRCh38:
- Chr16:15732617
| MYH11 | K1200*, K1207* | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 1 | Pathogenic/Likely pathogenic
(Nov 19, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:74136215
- GRCh38:
- Chr2:73909088
| ACTG2 | Y134N, Y91N | Visceral myopathy 1 | Pathogenic
(Mar 27, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr2:74141962
- GRCh38:
- Chr2:73914835
| ACTG2 | R257C, R214C | Inborn genetic diseases, Visceral myopathy 1, Visceral neuropathy, familial, 3, autosomal dominant,
not provided, Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5,
Hyperinsulinemia | Pathogenic
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74128557
- GRCh38:
- Chr2:73901430
| ACTG2 | R40H | Visceral neuropathy, familial, 3, autosomal dominant, Visceral myopathy 1, not provided,
Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Pathogenic/Likely pathogenic
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74140693
- GRCh38:
- Chr2:73913566
| ACTG2 | R178H, R135H | Inborn genetic diseases, Visceral myopathy 1, not provided
| Pathogenic
(Nov 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74140692
- GRCh38:
- Chr2:73913565
| ACTG2 | R178C, R135C | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1, not provided
| Pathogenic
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74128556
- GRCh38:
- Chr2:73901429
| ACTG2 | R40C | Visceral myopathy 1, not provided | Pathogenic/Likely pathogenic
(Apr 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74140693
- GRCh38:
- Chr2:73913566
| ACTG2 | R178L, R135L | Inborn genetic diseases, not provided | Pathogenic
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:74136257
- GRCh38:
- Chr2:73909130
| ACTG2 | R148S, R105S | Chronic intestinal pseudoobstruction, Visceral myopathy 1 | Pathogenic
(May 2, 2015) | no assertion criteria provided |