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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:97014044-137331362
GRCh38:
Chr4:96092893-136410207
FABP2, LINC01378, SNORA101A, LAMTOR3, DKK2, LOC111216291, LARP1B, LOC111240471, LOC110121129, ENPEP, LOC116158505, AIMP1, ADAD1, SLC9B2, LOC112935971, LOC112935974, LOC121725185, LINC02263, TET2-AS1, BDH2, PRDM5, SEC24B-AS1, PCDH10-DT, LOC111216272, LOC112935979, CENPE, LOC116158504, SPRY1, KIAA1109, PPP3CA, LOC121056741, LINC02516, LINC02379, ZGRF1, PP12613, IL2, ELOVL6, MIR1973, LOC102723704, LINC02615, INTU, QRFPR, TNIP3, LINC02479, PAPSS1, USP53, SNORA24, CYP2U1, LOC112935980, LINC01365, LINC02502, SYNPO2, NFKB1, ANK2, PITX2, C4orf17, LOC111188164, LINC02173, NPNT, LINC01091, LOC121053189, LINC01061, PRSS12, EIF4E, SPATA5, METTL14-DT, PDE5A, LEF1-AS1, FLJ20021, LOC109113863, LOC100507053, BANK1, LOC112935973, MIR302A, CXXC4-AS1, SLC9B1, LOC110120634, DDIT4L, COL25A1-DT, COL25A1, LOC121725187, LOC110120806, PABPC4L, LOC110121138, C4orf33, LRIT3, H2AZ1, SNHG27, LOC112935972, MIR302CHG, MIR302C, LINC00613, STPG2-AS1, H2AZ1-DT, NUDT6, LOC105377621, LOC101929621, FAM241A, ADH5, PLK4, PANCR, DDIT4L-AS1, SEC24D, LOC121056743, LOC121725183, MAD2L1-DT, LINC02485, EMCN, LOC121725188, TRAM1L1, LOC121056742, MIR1243, ABHD18, LOC110120819, SEC24B, CASP6, IL21, EGF, NDNF, IL21-AS1, LOC121725180, TRPC3, LINC01216, RPL34-DT, FGF2, PGRMC2, DNAJB14, TSPAN5-DT, MIR297, EXOSC9, AP1AR, LOC110120805, LOC112935975, SCLT1, CAMK2D, MIR3684, LINC02465, LOC110121089, NDNF-AS1, RAP1GDS1, LOC111413048, NDST3, TET2, LOC111216289, UBE2D3-AS1, LEF1, RPL34, LOC121725186, ADH4, MIR2054, ETNPPL, ANXA5, LINC02466, MTTP, LOC121725181, LINC01217, INTS12, LINC01256, UGT8, PCDH10, LOC101929762, TACR3, MIR1255A, LINC02264, SLC39A8, STPG2, LOC116158506, DAPP1, GAR1, C4orf3, LOC116158507, LOC111216288, LOC112935970, ADH1A, GIMD1, TIFA, METAP1, NEUROG2, ADH6, PPA2, BBS12, MIR367, TBCK, METTL14, SGMS2, JADE1, SMIM43, MYOZ2, LOC121053191, NDST4, HSPA4L, ADH1B, ARSJ, MAD2L1, LOC112935976, LOC110120703, TRC-GCA2-1, LOC112935978, LOC101929577, MFSD8, ARHGEF38-IT1, NEUROG2-AS1, BBS7, CCNA2, LINC01218, LOC110121150, TSPAN5, LOC111216292, LOC121053190, GSTCD, CYP2U1-AS1, LOC111591508, LOC107986192, ALPK1, UBE2D3, LARP7, PLA2G12A, LOC121053192, MIR8066, CXXC4, SNHG8, CFI, OSTC, MIR576, LOC112935977, LOC121725182, LINC02267, MANBA, GSTCD-AS1, LOC111216290, LOC110120975, MIR8082, MIR302B, HADH, MIR577, LINC02377, ANKRD50, LINC02428, LOC112939918, ARHGEF38, LOC121725179, TRMT10A, CISD2, MCUB, MIR302D, LOC111216273, C4orf54, SLC25A31, LINC02262, RRH, LINC02462, ADH7, FAT4, ADH1C
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058033
2.
GRCh37:
Chr4:106699504-111128029
GRCh38:
Chr4:105778347-110206873
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058034
3.
GRCh37:
Chr4:110721397-110911297
GRCh38:
Chr4:109800241-109990141
GAR1, CFI, LRIT3, RRH, EGFSee casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057893
4.
GRCh37:
Chr4:110834045
GRCh38:
Chr4:109912889
EGFHypomagnesemia 4, renalLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000347218
5.
GRCh37:
Chr4:110834068
GRCh38:
Chr4:109912912
EGFHypomagnesemia 4, renalBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000901088
6.
GRCh37:
Chr4:110834110
GRCh38:
Chr4:109912954
EGFHypomagnesemia 4, renal, not provided, cetuximab response - Efficacy
drug response
(Feb 1, 2018)
reviewed by expert panelVCV000225998
7.
GRCh37:
Chr4:110834131
GRCh38:
Chr4:109912975
EGFHypomagnesemia 4, renalUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000901633
8.
GRCh37:
Chr4:110834150
GRCh38:
Chr4:109912994
EGFnot providedLikely benign
(May 14, 2020)
criteria provided, single submitterVCV001317925
9.
GRCh37:
Chr4:110834150
GRCh38:
Chr4:109912994
EGFHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901634
10.
GRCh37:
Chr4:110834209
GRCh38:
Chr4:109913053
EGFHypomagnesemia 4, renalUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000347219
11.
GRCh37:
Chr4:110834219
GRCh38:
Chr4:109913063
EGFHypomagnesemia 4, renalUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000901635
12.
GRCh37:
Chr4:110834222
GRCh38:
Chr4:109913066
EGFHypomagnesemia 4, renalUncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000901636
13.
GRCh37:
Chr4:110834227
GRCh38:
Chr4:109913071
EGFHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000347220
14.
GRCh37:
Chr4:110834264
GRCh38:
Chr4:109913108
EGFHypomagnesemia 4, renalUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000903585
15.
GRCh37:
Chr4:110834352
GRCh38:
Chr4:109913196
EGFHypomagnesemia 4, renalUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000347221
16.
GRCh37:
Chr4:110834365
GRCh38:
Chr4:109913209
EGFHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000347222
17.
GRCh37:
Chr4:110834390
GRCh38:
Chr4:109913234
EGFHypomagnesemia 4, renalLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000347223
18.
GRCh37:
Chr4:110834414
GRCh38:
Chr4:109913258
EGFHypomagnesemia 4, renalLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000903586
19.
GRCh37:
Chr4:110834432
GRCh38:
Chr4:109913276
EGFHypomagnesemia 4, renalUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000903587
20.
GRCh37:
Chr4:110834537
GRCh38:
Chr4:109913381
EGFS16RHypomagnesemia 4, renal, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000347224
21.
GRCh37:
Chr4:110834538
GRCh38:
Chr4:109913382
EGFS16THypomagnesemia 4, renal, Hereditary renal cell carcinomaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000347225
22.
GRCh37:
Chr4:110834548
GRCh38:
Chr4:109913392
EGFnot provided, Hypomagnesemia 4, renalConflicting interpretations of pathogenicity
(Jan 30, 2018)
criteria provided, conflicting interpretationsVCV000721901
23.
GRCh37:
Chr4:110834632
GRCh38:
Chr4:109913476
EGFHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899984
24.
GRCh37:
Chr4:110834647
GRCh38:
Chr4:109913491
EGFnot providedLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV001320558
25.
GRCh37:
Chr4:110834725
GRCh38:
Chr4:109913569
EGFnot providedLikely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001316771
26.
GRCh37:
Chr4:110834920
GRCh38:
Chr4:109913764
EGFnot providedLikely benign
(Nov 10, 2018)
criteria provided, single submitterVCV001316534
27.
GRCh37:
Chr4:110861916
GRCh38:
Chr4:109940760
EGFnot providedLikely benign
(Aug 3, 2020)
criteria provided, single submitterVCV001317851
28.
GRCh37:
Chr4:110861927
GRCh38:
Chr4:109940771
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001287068
29.
GRCh37:
Chr4:110862023
GRCh38:
Chr4:109940867
EGFnot providedBenign
(Feb 3, 2020)
criteria provided, single submitterVCV001282787
30.
GRCh37:
Chr4:110862166
GRCh38:
Chr4:109941010
EGFnot providedLikely benign
(Sep 13, 2017)
criteria provided, single submitterVCV000709774
31.
GRCh37:
Chr4:110862238
GRCh38:
Chr4:109941082
EGFHypomagnesemia 4, renal, not providedBenign
(Apr 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000347226
32.
GRCh37:
Chr4:110862363
GRCh38:
Chr4:109941207
EGFnot providedBenign
(Jan 28, 2020)
criteria provided, single submitterVCV001267512
33.
GRCh37:
Chr4:110864533
GRCh38:
Chr4:109943377
EGFH151YHypomagnesemia 4, renal, not providedBenign
(Feb 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000347227
34.
GRCh37:
Chr4:110864723
GRCh38:
Chr4:109943567
EGFnot providedBenign
(Jan 26, 2020)
criteria provided, single submitterVCV001272335
35.
GRCh37:
Chr4:110864831
GRCh38:
Chr4:109943675
EGFnot providedLikely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001316770
36.
GRCh37:
Chr4:110864858
GRCh38:
Chr4:109943702
EGFnot providedBenign
(Feb 3, 2020)
criteria provided, single submitterVCV001290696
37.
GRCh37:
Chr4:110865044
GRCh38:
Chr4:109943888
EGFD186HHypomagnesemia 4, renal, not providedBenign
(Feb 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000347228
38.
GRCh37:
Chr4:110865150
GRCh38:
Chr4:109943994
EGFR221THypomagnesemia 4, renalUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000899985
39.
GRCh37:
Chr4:110865208
GRCh38:
Chr4:109944052
EGFnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000718514
40.
GRCh37:
Chr4:110865219
GRCh38:
Chr4:109944063
EGFP244QHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899986
41.
GRCh37:
Chr4:110865271
GRCh38:
Chr4:109944115
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001272784
42.
GRCh37:
Chr4:110865316
GRCh38:
Chr4:109944160
EGFnot providedLikely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001317550
43.
GRCh37:
Chr4:110865366
GRCh38:
Chr4:109944210
EGFnot providedBenign
(Apr 2, 2020)
criteria provided, single submitterVCV001234130
44.
GRCh37:
Chr4:110865378
GRCh38:
Chr4:109944222
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001292009
45.
GRCh37:
Chr4:110865432
GRCh38:
Chr4:109944276
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001261943
46.
GRCh37:
Chr4:110865465
GRCh38:
Chr4:109944309
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001222566
47.
GRCh37:
Chr4:110865468
GRCh38:
Chr4:109944312
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001286580
48.
GRCh37:
Chr4:110865485
GRCh38:
Chr4:109944329
EGFnot providedBenign
(Apr 2, 2020)
criteria provided, single submitterVCV001257011
49.
GRCh37:
Chr4:110865487
GRCh38:
Chr4:109944331
EGFnot providedBenign
(Apr 2, 2020)
criteria provided, single submitterVCV001270100
50.
GRCh37:
Chr4:110865546
GRCh38:
Chr4:109944390
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001251476
51.
GRCh37:
Chr4:110866178
GRCh38:
Chr4:109945022
EGFnot providedBenign
(Nov 26, 2019)
criteria provided, single submitterVCV001250595
52.
GRCh37:
Chr4:110866233
GRCh38:
Chr4:109945077
EGFN248DHypomagnesemia 4, renalUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000899987
53.
GRCh37:
Chr4:110866260
GRCh38:
Chr4:109945104
EGFD257HHypomagnesemia 4, renal, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000347229
54.
GRCh37:
Chr4:110866282
GRCh38:
Chr4:109945126
EGFW264*Hypomagnesemia 4, renalUncertain significance
(Oct 15, 2018)
criteria provided, single submitterVCV000632423
55.
GRCh37:
Chr4:110866294
GRCh38:
Chr4:109945138
EGFT268KHypomagnesemia 4, renalUncertain significance
(Sep 24, 2019)
criteria provided, single submitterVCV000931532
56.
GRCh37:
Chr4:110866326
GRCh38:
Chr4:109945170
EGFD279NHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901152
57.
GRCh37:
Chr4:110866366
GRCh38:
Chr4:109945210
EGFL292Hnot provided, Hypomagnesemia 4, renalBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000709736
58.
GRCh37:
Chr4:110866382
GRCh38:
Chr4:109945226
EGFnot providedLikely benign
(Sep 19, 2018)
criteria provided, single submitterVCV000753088
59.
GRCh37:
Chr4:110866442
GRCh38:
Chr4:109945286
EGFHypomagnesemia 4, renal, not provided, not specified
Benign
(Nov 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000347230
60.
GRCh37:
Chr4:110866453
GRCh38:
Chr4:109945297
EGFnot providedBenign
(Apr 2, 2020)
criteria provided, single submitterVCV001232612
61.
GRCh37:
Chr4:110866508
GRCh38:
Chr4:109945352
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001249315
62.
GRCh37:
Chr4:110866526
GRCh38:
Chr4:109945370
EGFnot providedBenign
(Jan 26, 2020)
criteria provided, single submitterVCV001255119
63.
GRCh37:
Chr4:110866582
GRCh38:
Chr4:109945426
EGFnot providedBenign
(Jan 26, 2020)
criteria provided, single submitterVCV001227802
64.
GRCh37:
Chr4:110866717
GRCh38:
Chr4:109945561
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001234600
65.
GRCh37:
Chr4:110880362
GRCh38:
Chr4:109959206
EGFnot providedLikely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001316769
66.
GRCh37:
Chr4:110880364
GRCh38:
Chr4:109959208
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001264142
67.
GRCh37:
Chr4:110880459
GRCh38:
Chr4:109959303
EGFnot providedBenign
(Dec 26, 2018)
criteria provided, single submitterVCV000708788
68.
GRCh37:
Chr4:110880505
GRCh38:
Chr4:109959349
EGFnot providedLikely benign
(Oct 10, 2018)
criteria provided, single submitterVCV000752482
69.
GRCh37:
Chr4:110880574-110880575
GRCh38:
Chr4:109959418-109959419
EGFnot providedLikely benign
(Apr 26, 2018)
criteria provided, single submitterVCV000722156
70.
GRCh37:
Chr4:110880603
GRCh38:
Chr4:109959447
EGFHypomagnesemia 4, renal, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000347231
71.
GRCh37:
Chr4:110880605
GRCh38:
Chr4:109959449
EGFHypomagnesemia 4, renalUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000901153
72.
GRCh37:
Chr4:110880633
GRCh38:
Chr4:109959477
EGFnot providedBenign
(Jan 28, 2020)
criteria provided, single submitterVCV001274103
73.
GRCh37:
Chr4:110881801
GRCh38:
Chr4:109960645
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001260661
74.
GRCh37:
Chr4:110881941
GRCh38:
Chr4:109960785
EGFnot providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001237169
75.
GRCh37:
Chr4:110882051
GRCh38:
Chr4:109960895
EGFHypomagnesemia 4, renal, not providedBenign
(Sep 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000347232
76.
GRCh37:
Chr4:110882053
GRCh38:
Chr4:109960897
EGFG324D, G366DHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901154
77.
GRCh37:
Chr4:110882093
GRCh38:
Chr4:109960937
EGFHypomagnesemia 4, renal, not providedConflicting interpretations of pathogenicity
(Jun 20, 2018)
criteria provided, conflicting interpretationsVCV000730986
78.
GRCh37:
Chr4:110882096
GRCh38:
Chr4:109960940
EGFRenal Hypomagnesemia, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000347233
79.
GRCh37:
Chr4:110882136
GRCh38:
Chr4:109960980
EGFR394*, R352*Hypomagnesemia 4, renalUncertain significance
(Dec 6, 2018)
criteria provided, single submitterVCV000632424
80.
GRCh37:
Chr4:110882347-110882348
GRCh38:
Chr4:109961191-109961192
EGFnot providedLikely benign
(Mar 3, 2021)
criteria provided, single submitterVCV001316557
81.
GRCh37:
Chr4:110882460
GRCh38:
Chr4:109961304
EGFnot providedBenign
(Nov 26, 2019)
criteria provided, single submitterVCV001250717
82.
GRCh37:
Chr4:110882476
GRCh38:
Chr4:109961320
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001221137
83.
GRCh37:
Chr4:110882980
GRCh38:
Chr4:109961824
EGFnot providedBenign
(Jan 28, 2020)
criteria provided, single submitterVCV001234770
84.
GRCh37:
Chr4:110882996
GRCh38:
Chr4:109961840
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001274502
85.
GRCh37:
Chr4:110883009
GRCh38:
Chr4:109961853
EGFHypomagnesemia 4, renalLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000901699
86.
GRCh37:
Chr4:110883087
GRCh38:
Chr4:109961931
EGFL420V, L378VHypomagnesemia 4, renalUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000901700
87.
GRCh37:
Chr4:110883121
GRCh38:
Chr4:109961965
EGFR431K, R389KHypomagnesemia 4, renal, not providedBenign
(Jan 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000347234
88.
GRCh37:
Chr4:110883127
GRCh38:
Chr4:109961971
EGFG433E, G391Enot providedLikely benign
(Nov 28, 2018)
criteria provided, single submitterVCV000795124
89.
GRCh37:
Chr4:110883341
GRCh38:
Chr4:109962185
EGFnot providedLikely benign
(Nov 12, 2018)
criteria provided, single submitterVCV001320574
90.
GRCh37:
Chr4:110883344
GRCh38:
Chr4:109962188
EGFnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001231801
91.
GRCh37:
Chr4:110884052
GRCh38:
Chr4:109962896
EGFnot providedBenign
(Nov 26, 2019)
criteria provided, single submitterVCV001289323
92.
GRCh37:
Chr4:110884154
GRCh38:
Chr4:109962998
EGFnot providedBenign
(Jun 16, 2020)
criteria provided, single submitterVCV001226787
93.
GRCh37:
Chr4:110884220-110884221
GRCh38:
Chr4:109963064-109963065
EGFnot providedBenign
(Jul 5, 2021)
criteria provided, single submitterVCV001304750
94.
GRCh37:
Chr4:110884296
GRCh38:
Chr4:109963140
EGFnot providedBenign
(Jan 28, 2020)
criteria provided, single submitterVCV001276812
95.
GRCh37:
Chr4:110884319
GRCh38:
Chr4:109963163
EGFHypomagnesemia 4, renal, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000347235
96.
GRCh37:
Chr4:110884352
GRCh38:
Chr4:109963196
EGFG446R, G404Rnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000592059
97.
GRCh37:
Chr4:110884369
GRCh38:
Chr4:109963213
EGFnot providedLikely benign
(Dec 19, 2018)
criteria provided, single submitterVCV000790786
98.
GRCh37:
Chr4:110884383
GRCh38:
Chr4:109963227
EGFP414Q, P456Qnot providedLikely benign
(Dec 28, 2018)
criteria provided, single submitterVCV000718048
99.
GRCh37:
Chr4:110884396
GRCh38:
Chr4:109963240
EGFnot provided, Hypomagnesemia 4, renalBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000769292
100.
GRCh37:
Chr4:110884420
GRCh38:
Chr4:109963264
EGFHypomagnesemia 4, renalUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000901701
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