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Items: 1 to 100 of 575

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:48531529
GRCh38:
Chr12:48137746
PFKMV271A, V290A, V292A, V321A, V329A, V369A, V392A, V424AGlycogen storage disease, type VIIUncertain significance
(Feb 16, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr12:48539020
GRCh38:
Chr12:48145237
PFKMS657L, S665L, S676L, S678L, S707L, S715L, S755L, S778L, S810LGlycogen storage disease, type VIIUncertain significance
(Jan 10, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr12:48527228
GRCh38:
Chr12:48133445
PFKMM136I, M157I, M186I, M194I, M234I, M257I, M289IGlycogen storage disease, type VIIUncertain significance
(Oct 28, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr12:48538960
GRCh38:
Chr12:48145177
PFKMGlycogen storage disease, type VIIUncertain significance
(Jul 18, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr12:48526648
GRCh38:
Chr12:48132865
MIR6505, PFKMGlycogen storage disease, type VIIConflicting interpretations of pathogenicity
(Apr 24, 2023)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr12:48536510-48536518
GRCh38:
Chr12:48142727-48142735
PFKMGlycogen storage disease, type VIIUncertain significance
(Jul 18, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr12:48501168
GRCh38:
Chr12:48107385
PFKMGlycogen storage disease, type VIILikely benign
(Nov 23, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr12:48536566
GRCh38:
Chr12:48142783
PFKMC503fs, C511fs, C522fs, C524fs, C553fs, C561fs, C601fs, C624fs, C656fsGlycogen storage disease, type VIIPathogenic
(Dec 28, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr12:48535165
GRCh38:
Chr12:48141382
PFKMGlycogen storage disease, type VIILikely pathogenic
(Aug 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:48528761
GRCh38:
Chr12:48134978
PFKMGlycogen storage disease, type VIILikely benign
(May 30, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:48528757-48528760
GRCh38:
Chr12:48134974-48134977
PFKMI210fs, I231fs, I260fs, I268fs, I308fs, I331fs, I363fsGlycogen storage disease, type VIIPathogenic
(May 30, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:48539475
GRCh38:
Chr12:48145692
PFKMG726E, G734E, G745E, G747E, G776E, G784E, G824E, G847E, G879EGlycogen storage disease, type VII, not provided, Inborn genetic diseases
Uncertain significance
(Sep 7, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:48529104
GRCh38:
Chr12:48135321
PFKMR292W, R300W, R363W, R263W, R242W, R340W, R395WInborn genetic diseases, Glycogen storage disease, type VII, not provided
Uncertain significance
(Feb 15, 2023)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:48537602
GRCh38:
Chr12:48143819
PFKMGlycogen storage disease, type VIIUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:48531562
GRCh38:
Chr12:48137779
PFKMP301L, P282L, P380L, P403L, P332L, P340L, P303L, P435LGlycogen storage disease, type VIIUncertain significance
(Jul 28, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr12:48539368
GRCh38:
Chr12:48145585
PFKMGlycogen storage disease, type VIILikely benign
(Jul 23, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr12:48537866
GRCh38:
Chr12:48144083
PFKMI611V, I688V, I590V, I609V, I598V, I648V, I711V, I743V, I640VGlycogen storage disease, type VIIUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr12:48536682
GRCh38:
Chr12:48142899
PFKMD562N, D599N, D639N, D560N, D591N, D662N, D541N, D549N, D694NGlycogen storage disease, type VIIUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:48536718
GRCh38:
Chr12:48142935
PFKMR561*, R674*, R553*, R574*, R603*, R651*, R706*, R572*, R611*Glycogen storage disease, type VIIPathogenic
(Jul 30, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:48528841
GRCh38:
Chr12:48135058
PFKMGlycogen storage disease, type VIILikely benign
(Dec 2, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr12:48534506
GRCh38:
Chr12:48140723
PFKMS356N, S367N, S369N, S469N, S348N, S398N, S501N, S406N, S446NGlycogen storage disease, type VIIUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:48529087
GRCh38:
Chr12:48135304
PFKMR236L, R357L, R286L, R294L, R257L, R334L, R389LGlycogen storage disease, type VIIUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:48528001
GRCh38:
Chr12:48134218
PFKMGlycogen storage disease, type VIILikely benign
(Aug 6, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr12:48527101
GRCh38:
Chr12:48133318
PFKMK115T, K144T, K192T, K215T, K247T, K94T, K152TGlycogen storage disease, type VIIUncertain significance
(Jul 2, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:48529113
GRCh38:
Chr12:48135330
PFKMV303I, V343I, V295I, V266I, V245I, V366I, V398IGlycogen storage disease, type VIIUncertain significance
(May 5, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:48527089
GRCh38:
Chr12:48133306
PFKMGlycogen storage disease, type VIILikely benign
(Aug 10, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:48526675
GRCh38:
Chr12:48132892
PFKMGlycogen storage disease, type VIILikely benign
(Apr 11, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:48525086
GRCh38:
Chr12:48131303
PFKMGlycogen storage disease, type VIIUncertain significance
(May 28, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr12:48539069
GRCh38:
Chr12:48145286
PFKMGlycogen storage disease, type VIILikely benign
(Oct 4, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr12:48533151
GRCh38:
Chr12:48139368
PFKMGlycogen storage disease, type VIILikely benign
(Sep 12, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr12:48537527
GRCh38:
Chr12:48143744
PFKMGlycogen storage disease, type VIIUncertain significance
(May 25, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr12:48528004
GRCh38:
Chr12:48134221
PFKMGlycogen storage disease, type VIILikely benign
(Apr 23, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:48536719
GRCh38:
Chr12:48142936
PFKMR553Q, R611Q, R574Q, R674Q, R603Q, R651Q, R706Q, R561Q, R572QGlycogen storage disease, type VIIUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr12:48531563
GRCh38:
Chr12:48137780
PFKMGlycogen storage disease, type VIILikely benign
(Oct 21, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:48528744
GRCh38:
Chr12:48134961
PFKMR227C, R256C, R327C, R206C, R264C, R304C, R359CGlycogen storage disease, type VIIUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:48533069
GRCh38:
Chr12:48139286
PFKMT403N, T426N, T305N, T355N, T363N, T313N, T324N, T458N, T326NGlycogen storage disease, type VIIUncertain significance
(May 31, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:48533151
GRCh38:
Chr12:48139368
PFKMGlycogen storage disease, type VIILikely benign
(Mar 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr12:48539435
GRCh38:
Chr12:48145652
PFKMD732N, D763N, D771N, D713N, D811N, D721N, D834N, D866N, D734NGlycogen storage disease, type VIIUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr12:48537960
GRCh38:
Chr12:48144177
PFKMGlycogen storage disease, type VIILikely benign
(Aug 21, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr12:48538907
GRCh38:
Chr12:48145124
PFKMR654C, R665C, R646C, R667C, R744C, R696C, R704C, R799C, R767CGlycogen storage disease, type VIIUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:48526798
GRCh38:
Chr12:48133015
PFKMR100C, R177C, R129C, R79C, R137C, R200C, R232CGlycogen storage disease, type VIIUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr12:48527995
GRCh38:
Chr12:48134212
PFKMGlycogen storage disease, type VIILikely benign
(Apr 11, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr12:48528735
GRCh38:
Chr12:48134952
PFKMR253C, R324C, R261C, R203C, R224C, R301C, R356CGlycogen storage disease, type VIIUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr12:48528777
GRCh38:
Chr12:48134994
PFKMI238V, I370V, I275V, I217V, I267V, I315V, I338VGlycogen storage disease, type VIIUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr12:48531601
GRCh38:
Chr12:48137818
PFKMR416H, R295H, R314H, R316H, R448H, R393H, R345H, R353HGlycogen storage disease, type VII, not providedUncertain significance
(Mar 2, 2023)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:48539419
GRCh38:
Chr12:48145636
PFKMGlycogen storage disease, type VIILikely benign
(Apr 17, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:48525177-48525178
GRCh38:
Chr12:48131394-48131395
PFKMGlycogen storage disease, type VIIUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr12:48535561
GRCh38:
Chr12:48141778
PFKMN434S, N484S, N587S, N532S, N442S, N453S, N555S, N455S, N492SGlycogen storage disease, type VIIUncertain significance
(May 6, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr12:48533058
GRCh38:
Chr12:48139275
PFKMGlycogen storage disease, type VIILikely benign
(Oct 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr12:48531602
GRCh38:
Chr12:48137819
PFKMGlycogen storage disease, type VIILikely benign
(Sep 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:48531595
GRCh38:
Chr12:48137812
PFKMA293D, A446D, A312D, A314D, A343D, A391D, A414D, A351DGlycogen storage disease, type VIIUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:48539460
GRCh38:
Chr12:48145677
PFKMT729I, T740I, T771I, T779I, T819I, T842I, T874I, T721I, T742IGlycogen storage disease, type VIIUncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr12:48527221
GRCh38:
Chr12:48133438
PFKMR134Q, R287Q, R155Q, R184Q, R192Q, R255Q, R232QGlycogen storage disease, type VIIUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr12:48535814
GRCh38:
Chr12:48142031
PFKMV498I, V509I, V490I, V548I, V611I, V511I, V588I, V540I, V643IGlycogen storage disease, type VIIUncertain significance
(Nov 9, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:48531630
GRCh38:
Chr12:48137847
PFKMGlycogen storage disease, type VIILikely pathogenic
(May 14, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr12:48538797-48538798
GRCh38:
Chr12:48145014-48145015
PFKMGlycogen storage disease, type VIILikely benign
(Jul 12, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr12:48533681
GRCh38:
Chr12:48139898
PFKMP364S, P441S, P464S, P343S, P351S, P401S, P393S, P496S, P362SInborn genetic diseases, Glycogen storage disease, type VIIUncertain significance
(Apr 25, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr12:48537954
GRCh38:
Chr12:48144171
PFKMGlycogen storage disease, type VIILikely benign
(Sep 29, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:48537886
GRCh38:
Chr12:48144103
PFKMGlycogen storage disease, type VIILikely benign
(Aug 6, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:48534521
GRCh38:
Chr12:48140738
PFKMV353A, V374A, V361A, V403A, V506A, V372A, V451A, V411A, V474AGlycogen storage disease, type VIIUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr12:48539474
GRCh38:
Chr12:48145691
PFKMG726R, G745R, G776R, G847R, G734R, G747R, G824R, G879R, G784RGlycogen storage disease, type VIIUncertain significance
(May 24, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:48524193
GRCh38:
Chr12:48130410
PFKMG148S, G16S, G45S, G116S, G53S, G93SGlycogen storage disease, type VIIUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:48526830
GRCh38:
Chr12:48133047
PFKMGlycogen storage disease, type VIILikely benign
(Mar 11, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr12:48527108
GRCh38:
Chr12:48133325
PFKMGlycogen storage disease, type VIILikely benign
(Jan 26, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr12:48539463
GRCh38:
Chr12:48145680
PFKMR875Q, R730Q, R743Q, R780Q, R820Q, R722Q, R741Q, R843Q, R772QGlycogen storage disease, type VIIUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr12:48524176
GRCh38:
Chr12:48130393
PFKMR10Q, R110Q, R47Q, R39Q, R142Q, R87QGlycogen storage disease, type VIIUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:48531521
GRCh38:
Chr12:48137738
PFKMGlycogen storage disease, type VIILikely benign
(Jun 10, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr12:48525086
GRCh38:
Chr12:48131303
PFKMGlycogen storage disease, type VIILikely benign
(Oct 7, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr12:48539342
GRCh38:
Chr12:48145559
PFKMGlycogen storage disease, type VIILikely benign
(Apr 25, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:48538898
GRCh38:
Chr12:48145115
PFKME651Q, E701Q, E741Q, E693Q, E764Q, E664Q, E643Q, E662Q, E796QGlycogen storage disease, type VIIUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr12:48527162
GRCh38:
Chr12:48133379
PFKMGlycogen storage disease, type VIILikely benign
(Oct 26, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr12:48526702
GRCh38:
Chr12:48132919
PFKMG68fs, G97fs, G168fs, G47fs, G105fs, G145fs, G200fsGlycogen storage disease, type VIIPathogenic
(Apr 12, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr12:48529156
GRCh38:
Chr12:48135373
PFKMD412V, D259V, D280V, D317V, D309V, D357V, D380VGlycogen storage disease, type VIIUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr12:48537543
GRCh38:
Chr12:48143760
PFKMV609A, V617A, V680A, V567A, V578A, V559A, V580A, V657A, V712AGlycogen storage disease, type VIIUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:48533614
GRCh38:
Chr12:48139831
PFKMGlycogen storage disease, type VIILikely benign
(Apr 4, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr12:48539392
GRCh38:
Chr12:48145609
PFKMGlycogen storage disease, type VIILikely benign
(Mar 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:48531603
GRCh38:
Chr12:48137820
PFKMGlycogen storage disease, type VIILikely benign
(Apr 4, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr12:48529097
GRCh38:
Chr12:48135314
PFKMGlycogen storage disease, type VIILikely benign
(Mar 24, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr12:48528496
GRCh38:
Chr12:48134713
PFKMGlycogen storage disease, type VIILikely benign
(Sep 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr12:48539401
GRCh38:
Chr12:48145618
PFKMI751M, I854M, I701M, I720M, I759M, I722M, I822M, I709M, I799MGlycogen storage disease, type VIIUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr12:48527201
GRCh38:
Chr12:48133418
PFKMGlycogen storage disease, type VIILikely benign
(Mar 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr12:48536636
GRCh38:
Chr12:48142853
PFKMGlycogen storage disease, type VIILikely benign
(Mar 9, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr12:48529168
GRCh38:
Chr12:48135385
PFKMGlycogen storage disease, type VIILikely pathogenic
(Mar 2, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr12:48529103
GRCh38:
Chr12:48135320
PFKMGlycogen storage disease, type VIILikely benign
(Feb 22, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr12:48537844
GRCh38:
Chr12:48144061
PFKMGlycogen storage disease, type VIILikely benign
(May 12, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr12:48528585
GRCh38:
Chr12:48134802
PFKMGlycogen storage disease, type VIILikely benign
(Sep 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr12:48539084
GRCh38:
Chr12:48145301
PFKMGlycogen storage disease, type VIILikely benign
(Jun 4, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:48538933
GRCh38:
Chr12:48145150
PFKMGlycogen storage disease, type VIILikely benign
(Jul 26, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr12:48533058
GRCh38:
Chr12:48139275
PFKMGlycogen storage disease, type VIIBenign
(Jan 10, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr12:48528063
GRCh38:
Chr12:48134280
PFKMGlycogen storage disease, type VIIUncertain significance
(Jan 13, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr12:48535549
GRCh38:
Chr12:48141766
PFKMQ449R, Q451R, Q551R, Q430R, Q528R, Q438R, Q480R, Q488R, Q583RGlycogen storage disease, type VIIUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr12:48533138
GRCh38:
Chr12:48139355
PFKMGlycogen storage disease, type VIIUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr12:48524146
GRCh38:
Chr12:48130363
PFKMG100D, G132D, G29D, G37D, G77DGlycogen storage disease, type VIIUncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:48534655
GRCh38:
Chr12:48140872
PFKMGlycogen storage disease, type VIILikely pathogenic
(Feb 8, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:48536653
GRCh38:
Chr12:48142870
PFKMA550V, A531V, A539V, A552V, A581V, A652V, A589V, A629V, A684VInborn genetic diseases, Glycogen storage disease, type VIIUncertain significance
(Jan 27, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:48537616
GRCh38:
Chr12:48143833
PFKMGlycogen storage disease, type VIILikely benign
(Aug 8, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:48535551
GRCh38:
Chr12:48141768
PFKMI439F, I489F, I431F, I481F, I552F, I584F, I452F, I529F, I450FGlycogen storage disease, type VIIUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr12:48529102
GRCh38:
Chr12:48135319
PFKMT339S, T291S, T241S, T299S, T362S, T394S, T262SGlycogen storage disease, type VIIUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr12:48535504
GRCh38:
Chr12:48141721
PFKMGlycogen storage disease, type VIIBenign
(Oct 21, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:48538874
GRCh38:
Chr12:48145091
PFKMN643D, N656D, N733D, N756D, N654D, N685D, N693D, N635D, N788DGlycogen storage disease, type VIIUncertain significance
(Jan 27, 2023)
criteria provided, multiple submitters, no conflicts
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