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Links from MedGen

Items: 1 to 100 of 269

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:64104465
GRCh38:
Chr1:63638794
PGM1G183R, G380R, G398RPGM1-congenital disorder of glycosylationUncertain significance
(Apr 28, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr1:64124734
GRCh38:
Chr1:63659063
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr1:64059160-64059425
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr1:64117325
GRCh38:
Chr1:63651654
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Apr 12, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr1:64097389
GRCh38:
Chr1:63631718
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Jul 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr1:64097473
GRCh38:
Chr1:63631802
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 31, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr1:64100688
GRCh38:
Chr1:63635017
PGM1G291R, G309R, G94RPGM1-congenital disorder of glycosylationLikely pathogenic
(Dec 31, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr1:64117537-64117538
GRCh38:
Chr1:63651866-63651867
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:64117481
GRCh38:
Chr1:63651810
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 5, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:64114177
GRCh38:
Chr1:63648506
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 19, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:64117371
GRCh38:
Chr1:63651700
PGM1A241T, A438T, A456TPGM1-congenital disorder of glycosylationUncertain significance
(May 20, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:64100611
GRCh38:
Chr1:63634940
PGM1N283S, N68S, N265SPGM1-congenital disorder of glycosylationUncertain significance
(May 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:64095595
GRCh38:
Chr1:63629924
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 30, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:64120143
GRCh38:
Chr1:63654472
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(May 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:64100695
GRCh38:
Chr1:63635024
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:64097377
GRCh38:
Chr1:63631706
PGM1I202M, I5M, I220MPGM1-congenital disorder of glycosylationUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:64120068
GRCh38:
Chr1:63654397
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Jun 30, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:64104385
GRCh38:
Chr1:63638714
PGM1Y353C, Y156C, Y371CPGM1-congenital disorder of glycosylationUncertain significance
(Jun 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:64059279
GRCh38:
Chr1:63593608
PGM1I40MPGM1-congenital disorder of glycosylationUncertain significance
(May 25, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:64059293
GRCh38:
Chr1:63593622
PGM1S45FPGM1-congenital disorder of glycosylationUncertain significance
(Jan 25, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:64114282
GRCh38:
Chr1:63648611
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 15, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:64114179
GRCh38:
Chr1:63648508
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 9, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:64095666
GRCh38:
Chr1:63629995
PGM1E155K, E173KPGM1-congenital disorder of glycosylationUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:64059219
GRCh38:
Chr1:63593548
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Mar 26, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:64100540
GRCh38:
Chr1:63634869
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Oct 12, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:64100546
GRCh38:
Chr1:63634875
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Apr 19, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:64059405
GRCh38:
Chr1:63593734
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:64102011
GRCh38:
Chr1:63636340
PGM1G345V, G130V, G327VPGM1-congenital disorder of glycosylationUncertain significance
(May 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:64101899
GRCh38:
Chr1:63636228
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 23, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:64104468
GRCh38:
Chr1:63638797
PGM1T399A, T381A, T184AInborn genetic diseases, PGM1-congenital disorder of glycosylationUncertain significance
(Jul 20, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:64059402
GRCh38:
Chr1:63593731
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 29, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:64059278
GRCh38:
Chr1:63593607
PGM1I40fsPGM1-congenital disorder of glycosylationPathogenic
(Oct 26, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:64101908
GRCh38:
Chr1:63636237
PGM1R311*, R96*, R293*PGM1-congenital disorder of glycosylationPathogenic
(Sep 2, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:64117460
GRCh38:
Chr1:63651789
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 7, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:64120142
GRCh38:
Chr1:63654471
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:64101900
GRCh38:
Chr1:63636229
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Oct 21, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:64059425-64059426
GRCh38:
Chr1:63593754-63593755
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:64114341-64114342
GRCh38:
Chr1:63648670-63648671
PGM1PGM1-congenital disorder of glycosylationBenign
(May 23, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:64114182
GRCh38:
Chr1:63648511
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Oct 18, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:64097345
GRCh38:
Chr1:63631674
PGM1V192I, V210IPGM1-congenital disorder of glycosylationUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:64095617
GRCh38:
Chr1:63629946
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:64117542
GRCh38:
Chr1:63651871
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:64059264
GRCh38:
Chr1:63593593
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 2, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:64100638
GRCh38:
Chr1:63634967
PGM1E274G, E292G, E77GPGM1-congenital disorder of glycosylationUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:64102050
GRCh38:
Chr1:63636379
PGM1A143G, A358G, A340GPGM1-congenital disorder of glycosylationUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:64120061
GRCh38:
Chr1:63654390
PGM1G526E, G311E, G508EPGM1-congenital disorder of glycosylationUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:64104442
GRCh38:
Chr1:63638771
PGM1S175F, S390F, S372FPGM1-congenital disorder of glycosylation, Inborn genetic diseasesUncertain significance
(Mar 24, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:64059197
GRCh38:
Chr1:63593526
PGM1Q13PPGM1-congenital disorder of glycosylationUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:64120093
GRCh38:
Chr1:63654422
PGM1D519N, D537N, D322NPGM1-congenital disorder of glycosylationUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:64059413
GRCh38:
Chr1:63593742
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Apr 30, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:64095617
GRCh38:
Chr1:63629946
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Feb 21, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:64120111
GRCh38:
Chr1:63654440
PGM1V525I, V328I, V543IPGM1-congenital disorder of glycosylationUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:64114247
GRCh38:
Chr1:63648576
PGM1L205V, L420V, L402VPGM1-congenital disorder of glycosylationUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:64104371
GRCh38:
Chr1:63638700
PGM1PGM1-congenital disorder of glycosylationLikely benign
(May 15, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:64059278
GRCh38:
Chr1:63593607
PGM1I40TPGM1-congenital disorder of glycosylationUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:64120123
GRCh38:
Chr1:63654452
PGM1N529Y, N332Y, N547YPGM1-congenital disorder of glycosylationUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr1:64104471
GRCh38:
Chr1:63638800
PGM1G400S, G185S, G382SPGM1-congenital disorder of glycosylationUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:64102012
GRCh38:
Chr1:63636341
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Oct 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:64059327
GRCh38:
Chr1:63593656
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Dec 23, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr1:64095602
GRCh38:
Chr1:63629931
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 8, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:64095110
GRCh38:
Chr1:63629439
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 8, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:64100587
GRCh38:
Chr1:63634916
PGM1F257S, F275S, F60SPGM1-congenital disorder of glycosylationUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:64059201
GRCh38:
Chr1:63593530
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Oct 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:64117430
GRCh38:
Chr1:63651759
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 15, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:64114297
GRCh38:
Chr1:63648626
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 7, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:64095714
GRCh38:
Chr1:63630043
PGM1G171*, G189*PGM1-congenital disorder of glycosylationPathogenic
(Sep 27, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:64104394
GRCh38:
Chr1:63638723
PGM1P374L, P159L, P356LPGM1-congenital disorder of glycosylationUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:64059311
GRCh38:
Chr1:63593640
PGM1Q51RPGM1-congenital disorder of glycosylationUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:64125242
GRCh38:
Chr1:63659571
PGM1PGM1-congenital disorder of glycosylationLikely benign
(May 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:64095209
GRCh38:
Chr1:63629538
PGM1PGM1-congenital disorder of glycosylationLikely benign
(May 24, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:64059288
GRCh38:
Chr1:63593617
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Feb 19, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:64100540
GRCh38:
Chr1:63634869
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 31, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:64117323
GRCh38:
Chr1:63651652
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 2, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:64100618
GRCh38:
Chr1:63634947
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 7, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:64100655
GRCh38:
Chr1:63634984
PGM1E280Q, E83Q, E298QPGM1-congenital disorder of glycosylationUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:64125244
GRCh38:
Chr1:63659573
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 23, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:64102072
GRCh38:
Chr1:63636401
PGM1PGM1-congenital disorder of glycosylationLikely benign
(May 16, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:64059207
GRCh38:
Chr1:63593536
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Sep 21, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:64095663
GRCh38:
Chr1:63629992
PGM1I154V, I172VPGM1-congenital disorder of glycosylationUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:64117514
GRCh38:
Chr1:63651843
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Mar 13, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:64120143
GRCh38:
Chr1:63654472
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr1:64097373
GRCh38:
Chr1:63631702
PGM1S219I, S4I, S201IPGM1-congenital disorder of glycosylationUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:64117417
GRCh38:
Chr1:63651746
PGM1S471C, S453C, S256CPGM1-congenital disorder of glycosylationUncertain significance
(May 19, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:64102077
GRCh38:
Chr1:63636406
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 30, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:64119987-64119988
GRCh38:
Chr1:63654316-63654317
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:64059330
GRCh38:
Chr1:63593659
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Jan 22, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr1:64104433
GRCh38:
Chr1:63638762
PGM1S369N, S387N, S172NPGM1-congenital disorder of glycosylationUncertain significance
(Apr 23, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:64059266
GRCh38:
Chr1:63593595
PGM1A36VPGM1-congenital disorder of glycosylationUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:64095131
GRCh38:
Chr1:63629460
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 10, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:64095762
GRCh38:
Chr1:63630091
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:64097323
GRCh38:
Chr1:63631652
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 2, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:64104410
GRCh38:
Chr1:63638739
PGM1PGM1-congenital disorder of glycosylationUncertain significance
(May 28, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:64100700
GRCh38:
Chr1:63635029
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Aug 8, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:64117350
GRCh38:
Chr1:63651679
PGM1E234K, E431K, E449KInborn genetic diseases, PGM1-congenital disorder of glycosylationUncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:64059362
GRCh38:
Chr1:63593691
PGM1K68MPGM1-congenital disorder of glycosylationUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:64059164
GRCh38:
Chr1:63593493
PGM1V2GPGM1-congenital disorder of glycosylationUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:64104408
GRCh38:
Chr1:63638737
PGM1F164I, F361I, F379IPGM1-congenital disorder of glycosylationUncertain significance
(May 20, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:64095206
GRCh38:
Chr1:63629535
PGM1PGM1-congenital disorder of glycosylationLikely benign
(Mar 28, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:64125321
GRCh38:
Chr1:63659650
PGM1R555H, R573H, R358HPGM1-congenital disorder of glycosylationUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:64117453
GRCh38:
Chr1:63651782
PGM1V268D, V465D, V483DPGM1-congenital disorder of glycosylationUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
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