| - GRCh37:
- Chr19:49481185
- GRCh38:
- Chr19:48977928
| GYS1 | T371M, T435M | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494539-49496369
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473972
- GRCh38:
- Chr19:48970715
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49484799
- GRCh38:
- Chr19:48981542
| GYS1 | R322H, R386H | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49486010
- GRCh38:
- Chr19:48982753
| GYS1 | R239Q, R303Q | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49489202
- GRCh38:
- Chr19:48985945
| GYS1 | R131*, R195* | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Pathogenic
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490609
- GRCh38:
- Chr19:48987352
| GYS1 | P112S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473790
- GRCh38:
- Chr19:48970533
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49486026
- GRCh38:
- Chr19:48982769
| GYS1 | A234T, A298T | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Inborn genetic diseases | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:49485567
- GRCh38:
- Chr19:48982310
| GYS1 | N336S, N272S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473119
- GRCh38:
- Chr19:48969862
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49489287
- GRCh38:
- Chr19:48986030
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472752
- GRCh38:
- Chr19:48969495
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49477937
- GRCh38:
- Chr19:48974680
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49496303
- GRCh38:
- Chr19:48993046
| GYS1 | D23N | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488820
- GRCh38:
- Chr19:48985563
| GYS1 | R241*, R177* | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Pathogenic
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473127
- GRCh38:
- Chr19:48969870
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490658
- GRCh38:
- Chr19:48987401
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472670
- GRCh38:
- Chr19:48969413
| GYS1 | A633P, A697P | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485528
- GRCh38:
- Chr19:48982271
| GYS1 | L285P, L349P | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49489093
- GRCh38:
- Chr19:48985836
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494754
- GRCh38:
- Chr19:48991497
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485556
- GRCh38:
- Chr19:48982299
| GYS1 | D340N, D276N | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49474196
- GRCh38:
- Chr19:48970939
| GYS1, LOC119369037 | P545L, P481L | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481234
- GRCh38:
- Chr19:48977977
| GYS1 | M355V, M419V | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473083
- GRCh38:
- Chr19:48969826
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481420
- GRCh38:
- Chr19:48978163
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49477888
- GRCh38:
- Chr19:48974631
| GYS1 | D407N, D471N | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485586
- GRCh38:
- Chr19:48982329
| GYS1 | G330R, G266R | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49484768
- GRCh38:
- Chr19:48981511
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490496
- GRCh38:
- Chr19:48987239
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49474167
- GRCh38:
- Chr19:48970910
| LOC119369037, GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490435
- GRCh38:
- Chr19:48987178
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481399
- GRCh38:
- Chr19:48978142
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472887
- GRCh38:
- Chr19:48969630
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473936
- GRCh38:
- Chr19:48970679
| GYS1 | S495N, S559N | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473849
- GRCh38:
- Chr19:48970592
| GYS1 | R524H, R588H | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472811
- GRCh38:
- Chr19:48969554
| GYS1 | R650*, R586* | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473970
- GRCh38:
- Chr19:48970713
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473896
- GRCh38:
- Chr19:48970639
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49496362-49496363
- GRCh38:
- Chr19:48993105-48993106
| GYS1 | L3fs | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Pathogenic
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481384
- GRCh38:
- Chr19:48978127
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481383
- GRCh38:
- Chr19:48978126
| GYS1 | G401R, G337R | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485957
- GRCh38:
- Chr19:48982700
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490506
- GRCh38:
- Chr19:48987249
| GYS1 | R146H | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481434
- GRCh38:
- Chr19:48978177
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481340
- GRCh38:
- Chr19:48978083
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485972
- GRCh38:
- Chr19:48982715
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473123
- GRCh38:
- Chr19:48969866
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490561
- GRCh38:
- Chr19:48987304
| GYS1 | R128C | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49477609-49477611
- GRCh38:
- Chr19:48974352-48974354
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490511
- GRCh38:
- Chr19:48987254
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494683
- GRCh38:
- Chr19:48991426
| GYS1 | G59D | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485589
- GRCh38:
- Chr19:48982332
| GYS1 | A265T, A329T | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481261
- GRCh38:
- Chr19:48978004
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Pathogenic
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494709
- GRCh38:
- Chr19:48991452
| GYS1 | K50N | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472764
- GRCh38:
- Chr19:48969507
| GYS1 | N665K, N601K | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473076
- GRCh38:
- Chr19:48969819
| GYS1 | A616S, A552S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490455
- GRCh38:
- Chr19:48987198
| GYS1 | G163V | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49496356
- GRCh38:
- Chr19:48993099
| GYS1 | R5H | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49489290
- GRCh38:
- Chr19:48986033
| GYS1 | F101L, F165L | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473031
- GRCh38:
- Chr19:48969774
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49474241
- GRCh38:
- Chr19:48970984
| LOC119369037, GYS1 | N466S, N530S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473132
- GRCh38:
- Chr19:48969875
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488755
- GRCh38:
- Chr19:48985498
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472682
- GRCh38:
- Chr19:48969425
| GYS1 | W629R, W693R | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472678
- GRCh38:
- Chr19:48969421
| GYS1 | P630R, P694R | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472765
- GRCh38:
- Chr19:48969508
| GYS1 | N601S, N665S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473086
- GRCh38:
- Chr19:48969829
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49485501
- GRCh38:
- Chr19:48982244
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488707
- GRCh38:
- Chr19:48985450
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473096
- GRCh38:
- Chr19:48969839
| GYS1 | R545H, R609H | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494552
- GRCh38:
- Chr19:48991295
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494548
- GRCh38:
- Chr19:48991291
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49486051
- GRCh38:
- Chr19:48982794
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49484895
- GRCh38:
- Chr19:48981638
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely pathogenic
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490486
- GRCh38:
- Chr19:48987229
| GYS1 | L153V | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49477936
- GRCh38:
- Chr19:48974679
| GYS1 | P391T, P455T | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49477599
- GRCh38:
- Chr19:48974342
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488827
- GRCh38:
- Chr19:48985570
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494616
- GRCh38:
- Chr19:48991359
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473111
- GRCh38:
- Chr19:48969854
| GYS1 | Y604C, Y540C | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494690
- GRCh38:
- Chr19:48991433
| GYS1 | E57K | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488705
- GRCh38:
- Chr19:48985448
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494755
- GRCh38:
- Chr19:48991498
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488866
- GRCh38:
- Chr19:48985609
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49489124
- GRCh38:
- Chr19:48985867
| GYS1 | Y157D, Y221D | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49488881
- GRCh38:
- Chr19:48985624
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49494562
- GRCh38:
- Chr19:48991305
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49477999
- GRCh38:
- Chr19:48974742
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49474173
- GRCh38:
- Chr19:48970916
| LOC119369037, GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472577
- GRCh38:
- Chr19:48969320
| GYS1 | P728S, P664S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472703
- GRCh38:
- Chr19:48969446
| GYS1 | R622C, R686C | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49489268
- GRCh38:
- Chr19:48986011
| GYS1 | P173A, P109A | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49472772
- GRCh38:
- Chr19:48969515
| GYS1 | P663S, P599S | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49481161
- GRCh38:
- Chr19:48977904
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49496248-49496249
- GRCh38:
- Chr19:48992991-48992992
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49484912
- GRCh38:
- Chr19:48981655
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Likely benign
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49473914
- GRCh38:
- Chr19:48970657
| GYS1 | | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Uncertain significance
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49490584
- GRCh38:
- Chr19:48987327
| GYS1 | G120fs | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Pathogenic
(Aug 4, 2022) | criteria provided, single submitter |