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Links from MedGen

Items: 1 to 100 of 771

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:118898330
GRCh38:
Chr11:119027620
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Mar 7, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr11:118895678-118895679
GRCh38:
Chr11:119024968-119024969
SLC37A4F338A, F411A, F433AGlucose-6-phosphate transport defectUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:118897661
GRCh38:
Chr11:119026951
SLC37A4Q257R, Q184RGlucose-6-phosphate transport defectUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:118897707
GRCh38:
Chr11:119026997
SLC37A4C242G, C169GGlucose-6-phosphate transport defectUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:118895630-118895631
GRCh38:
Chr11:119024920-119024921
SLC37A4K449A, K354A, K427AGlucose-6-phosphate transport defectUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:118897390
GRCh38:
Chr11:119026680
SLC37A4Y192H, Y265HGlucose-6-phosphate transport defectUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:118896677
GRCh38:
Chr11:119025967
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:118895740
GRCh38:
Chr11:119025030
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:118896760
GRCh38:
Chr11:119026050
SLC37A4H301Y, H228YGlucose-6-phosphate transport defectUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:118895999
GRCh38:
Chr11:119025289
SLC37A4S342L, S269L, S364LGlucose-6-phosphate transport defectUncertain significance
(Apr 14, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr11:118897387
GRCh38:
Chr11:119026677
SLC37A4M193V, M266VGlucose-6-phosphate transport defectUncertain significance
(May 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:118898899
GRCh38:
Chr11:119028189
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:118899991
GRCh38:
Chr11:119029281
SLC37A4T30IGlucose-6-phosphate transport defectUncertain significance
(Nov 27, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr11:118896043
GRCh38:
Chr11:119025333
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:118898948
GRCh38:
Chr11:119028238
SLC37A4A113T, A40TGlucose-6-phosphate transport defectUncertain significance
(May 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:118895960
GRCh38:
Chr11:119025250
SLC37A4E355A, E282A, E377AGlucose-6-phosphate transport defectUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:118896682
GRCh38:
Chr11:119025972
SLC37A4P327S, P254SGlucose-6-phosphate transport defectUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:118898370
GRCh38:
Chr11:119027660
SLC37A4N125S, N198SGlucose-6-phosphate transport defectUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:118899056
GRCh38:
Chr11:119028346
SLC37A4R77C, R4CGlucose-6-phosphate transport defectUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:118895694
GRCh38:
Chr11:119024984
SLC37A4A333P, A428P, A406PGlucose-6-phosphate transport defectUncertain significance
(May 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:118898386
GRCh38:
Chr11:119027676
SLC37A4D120N, D193NGlucose-6-phosphate transport defectUncertain significance
(Dec 4, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr11:118895639
GRCh38:
Chr11:119024929
SLC37A4V446E, V351E, V424EGlucose-6-phosphate transport defectUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:118896742
GRCh38:
Chr11:119026032
SLC37A4M234V, M307VGlucose-6-phosphate transport defectUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:118896791
GRCh38:
Chr11:119026081
SLC37A4Glucose-6-phosphate transport defectLikely pathogenic
(May 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:118898984
GRCh38:
Chr11:119028274
SLC37A4P101A, P28AGlucose-6-phosphate transport defectUncertain significance
(Sep 30, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:118899129
GRCh38:
Chr11:119028419
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:118896725-118896726
GRCh38:
Chr11:119026015-119026016
SLC37A4T239fs, T312fsGlucose-6-phosphate transport defectPathogenic
(Apr 13, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:118895988-118895996
GRCh38:
Chr11:119025278-119025286
SLC37A4Y343fs, Y270fs, Y365fsGlucose-6-phosphate transport defectPathogenic
(May 14, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:118897745
GRCh38:
Chr11:119027035
SLC37A4L229fs, L156fsGlucose-6-phosphate transport defectPathogenic
(Oct 17, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:118897628
GRCh38:
Chr11:119026918
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Mar 4, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:118899993
GRCh38:
Chr11:119029283
SLC37A4K29NGlucose-6-phosphate transport defectUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:118896698-118896699
GRCh38:
Chr11:119025988-119025989
SLC37A4T321fs, T248fsGlucose-6-phosphate transport defectPathogenic
(Aug 12, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:118897679-118897680
GRCh38:
Chr11:119026969-119026970
SLC37A4L251fs, L178fsGlucose-6-phosphate transport defectPathogenic
(Feb 25, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:118899963
GRCh38:
Chr11:119029253
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 19, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:118895884
GRCh38:
Chr11:119025174
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr11:118895691-118895692
GRCh38:
Chr11:119024981-119024982
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:118898457
GRCh38:
Chr11:119027747
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 19, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:118898936
GRCh38:
Chr11:119028226
SLC37A4G117S, G44SGlucose-6-phosphate transport defectUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:118897687
GRCh38:
Chr11:119026977
SLC37A4Q175H, Q248HGlucose-6-phosphate transport defectUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:118895621
GRCh38:
Chr11:119024911
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Aug 31, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:118895903
GRCh38:
Chr11:119025193
SLC37A4N396S, N301S, N374SGlucose-6-phosphate transport defectUncertain significance
(Jan 16, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:118895952
GRCh38:
Chr11:119025242
SLC37A4P285S, P380S, P358SGlucose-6-phosphate transport defectUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:118898370
GRCh38:
Chr11:119027660
SLC37A4N125fs, N198fsGlucose-6-phosphate transport defectPathogenic
(Feb 4, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:118899145
GRCh38:
Chr11:119028435
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:118898910
GRCh38:
Chr11:119028200
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Dec 22, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr11:118895789
GRCh38:
Chr11:119025079
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:118898374
GRCh38:
Chr11:119027664
SLC37A4R124C, R197CGlucose-6-phosphate transport defectUncertain significance
(Jan 31, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:118896794
GRCh38:
Chr11:119026084
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Dec 20, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr11:118897804
GRCh38:
Chr11:119027094
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Dec 13, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr11:118895998
GRCh38:
Chr11:119025288
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Oct 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:118899033
GRCh38:
Chr11:119028323
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:118897400
GRCh38:
Chr11:119026690
SLC37A4Glucose-6-phosphate transport defectLikely pathogenic
(Sep 10, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:118895801
GRCh38:
Chr11:119025091
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:118897415
GRCh38:
Chr11:119026705
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:118897312
GRCh38:
Chr11:119026602
SLC37A4Glucose-6-phosphate transport defectLikely pathogenic
(Jul 17, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:118895925
GRCh38:
Chr11:119025215
SLC37A4A367P, A294P, A389PGlucose-6-phosphate transport defectUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:118897653
GRCh38:
Chr11:119026943
SLC37A4Glucose-6-phosphate transport defectPathogenic
(Jun 27, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:118895986
GRCh38:
Chr11:119025276
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:118899053
GRCh38:
Chr11:119028343
SLC37A4W5R, W78RGlucose-6-phosphate transport defectUncertain significance
(May 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:118899943
GRCh38:
Chr11:119029233
SLC37A4K46RGlucose-6-phosphate transport defectUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:118896668
GRCh38:
Chr11:119025958
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:118898491
GRCh38:
Chr11:119027781
SLC37A4I85T, I158TGlucose-6-phosphate transport defectUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:118895704
GRCh38:
Chr11:119024994
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 2, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:118898587
GRCh38:
Chr11:119027877
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 11, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:118897294
GRCh38:
Chr11:119026584
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Sep 6, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:118896713
GRCh38:
Chr11:119026003
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 8, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:118897336
GRCh38:
Chr11:119026626
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Mar 12, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:118899045
GRCh38:
Chr11:119028335
SLC37A4Glucose-6-phosphate transport defectUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:118898916
GRCh38:
Chr11:119028206
SLC37A4K50N, K123NGlucose-6-phosphate transport defectUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:118895792-118895793
GRCh38:
Chr11:119025082-119025083
SLC37A4Glucose-6-phosphate transport defectBenign
(Oct 10, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:118897739
GRCh38:
Chr11:119027029
SLC37A4T231I, T158IGlucose-6-phosphate transport defectUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:118895633
GRCh38:
Chr11:119024923
SLC37A4K353R, K448R, K426RGlucose-6-phosphate transport defectUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:118896767
GRCh38:
Chr11:119026057
SLC37A4N298K, N225KInborn genetic diseases, Glucose-6-phosphate transport defectUncertain significance
(May 24, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:118898929
GRCh38:
Chr11:119028219
SLC37A4P46R, P119RInborn genetic diseases, Glucose-6-phosphate transport defectUncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:118897395
GRCh38:
Chr11:119026685
SLC37A4S190N, S263NGlucose-6-phosphate transport defectLikely pathogeniccriteria provided, single submitter
76.
GRCh37:
Chr11:118899930
GRCh38:
Chr11:119029220
SLC37A4Glucose-6-phosphate transport defectLikely pathogenic
(Jul 12, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:118896052
GRCh38:
Chr11:119025342
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Jun 25, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr11:118900011
GRCh38:
Chr11:119029301
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Mar 30, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr11:118899126
GRCh38:
Chr11:119028416
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Aug 25, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr11:118896013
GRCh38:
Chr11:119025303
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Nov 21, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr11:118899120
GRCh38:
Chr11:119028410
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Oct 3, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr11:118900053
GRCh38:
Chr11:119029343
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Nov 11, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr11:118899135
GRCh38:
Chr11:119028425
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Jan 25, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr11:118898372
GRCh38:
Chr11:119027662
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Jul 21, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:118897322
GRCh38:
Chr11:119026612
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Jun 27, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:118898366
GRCh38:
Chr11:119027656
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Dec 25, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr11:118899916
GRCh38:
Chr11:119029206
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Nov 22, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr11:118897397
GRCh38:
Chr11:119026687
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Dec 23, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr11:118896761
GRCh38:
Chr11:119026051
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Nov 18, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr11:118897296
GRCh38:
Chr11:119026586
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Oct 5, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:118895929
GRCh38:
Chr11:119025219
SLC37A4Glucose-6-phosphate transport defectLikely benign
(May 1, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr11:118896657
GRCh38:
Chr11:119025947
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Oct 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:118898591
GRCh38:
Chr11:119027881
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Nov 12, 2020)
criteria provided, single submitter
94.
GRCh37:
Chr11:118899054
GRCh38:
Chr11:119028344
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Sep 7, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:118895798
GRCh38:
Chr11:119025088
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 5, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:118895689
GRCh38:
Chr11:119024979
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Mar 13, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr11:118898328
GRCh38:
Chr11:119027618
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Apr 16, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr11:118897388
GRCh38:
Chr11:119026678
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Dec 21, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr11:118897404
GRCh38:
Chr11:119026694
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Aug 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:118896722
GRCh38:
Chr11:119026012
SLC37A4Glucose-6-phosphate transport defectLikely benign
(Feb 5, 2022)
criteria provided, single submitter
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