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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
ADORA3, ALX3, AMPD1, AMPD2, RHOC, ATP1A1, ATP5PB, CAPZA1, CASQ2, CD2, CD53, CD58, CHI3L2, CSF1, CELSR2, GNAI3, GNAT2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HMGCS2, HSD3B1, HSD3B2, IGSF3, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, MOV10, NGF, NHLH2, NOTCH2, NRAS, OVGP1, PSMA5, PTGFRN, RAP1A, SORT1, SARS1, SLC16A1, STXBP3, SYCP1, TAF13, TBX15, TSHB, WNT2B, CSDE1, TTF2, SLC16A4, CD101, LRIG2, TSPAN2, BCAS2, WARS2, CEPT1, VAV3, LAMTOR5, AP4B1, PHTF1, AHCYL1, WDR3, MAN1A2, ADAM30, DDX20, NTNG1, WDR47, CLCC1, PTPN22, PHGDH, CHIA, GPSM2, SLC25A24, HAO2, TRIM33, RSBN1, GDAP2, TENT5C, ST7L, PRPF38B, PRMT6, SLC22A15, LRIF1, CTTNBP2NL, INKA2, TMEM167B, OLFML3, TMIGD3, AMIGO1, ELAPOR1, RBM15, DCLRE1B, WDR77, EPS8L3, VTCN1, DENND2D, SIKE1, TRIM45, VANGL1, GPR61, REG4, PROK1, PSRC1, ATP1A1-AS1, STRIP1, ZNF697, HENMT1, MAB21L3, ATXN7L2, C1orf194, DRAM2, PIFO, C1orf162, SYT6, NBPF4, DENND2C, FNDC7, UBL4B, SPAG17, HIPK1, AKNAD1, MAGI3, TAFA3, FAM102B, SYPL2, CYB561D1, PPM1J, MYBPHL, SLC6A17, LINC02868, MIR197, RBM15-AS1, CYMP-AS1, BCL2L15, SPATA42, LINC01750, LOC643441, LINC00622, NBPF6, SCARNA2, MIR942, LINC01160, AP4B1-AS1, MIR320B1, MIR4256, INKA2-AS1, SLC16A1-AS1, MIR548AC, VAV3-AS1, LINC02586, KCND3-AS1, HAO2-IT1, KCND3-IT1, LRIG2-DT, LOC100996263, LINC01356, LAMTOR5-AS1, LINC01676, LOC101928718, HIPK1-AS1, LOC101928977, LINC01649, LINC01762, LOC101929099, WARS2-AS1, MIR7852, LINC01397, LINC01525, WARS2-IT1, LINC01677, LINC01661, SLC6A17-AS1, LINC02884, PPM1J-DT, LINC01357, LOC105378933, LINC01780, CD2-LCR, LOC107161156, LOC107985184, LOC109029529, LOC109029530, LOC110121098, LOC110121184, LOC110121283, LOC110121285, LOC111365211, LOC111413047, LOC111721703, LOC111776218, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, NGF-AS1, MIR11399, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154886
2.
GRCh37:
Chr1:110299252-119192827
GRCh38:
Chr1:109756630-118650204
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058084
3.
GRCh37:
Chr1:115041949-115469044
GRCh38:
Chr1:114499327-114926423
AMPD1, NRAS, SYCP1, CSDE1, BCAS2, TRIM33, SIKE1, DENND2CSee casesUncertain significance
(Sep 21, 2012)
no assertion criteria providedVCV000150274
4.
GRCh37:
Chr1:115247215
GRCh38:
Chr1:114704594
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000876141
5.
GRCh37:
Chr1:115247216
GRCh38:
Chr1:114704595
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291939
6.
GRCh37:
Chr1:115247285
GRCh38:
Chr1:114704664
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876142
7.
GRCh37:
Chr1:115247311
GRCh38:
Chr1:114704690
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291940
8.
GRCh37:
Chr1:115247323
GRCh38:
Chr1:114704702
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291941
9.
GRCh37:
Chr1:115247331
GRCh38:
Chr1:114704710
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291942
10.
GRCh37:
Chr1:115247349
GRCh38:
Chr1:114704728
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291943
11.
GRCh37:
Chr1:115247353
GRCh38:
Chr1:114704732
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876279
12.
GRCh37:
Chr1:115247374
GRCh38:
Chr1:114704753
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876280
13.
GRCh37:
Chr1:115247409
GRCh38:
Chr1:114704788
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000876281
14.
GRCh37:
Chr1:115247496
GRCh38:
Chr1:114704875
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000291944
15.
GRCh37:
Chr1:115247612
GRCh38:
Chr1:114704991
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876282
16.
GRCh37:
Chr1:115247653
GRCh38:
Chr1:114705032
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291945
17.
GRCh37:
Chr1:115247695
GRCh38:
Chr1:114705074
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876283
18.
GRCh37:
Chr1:115247750
GRCh38:
Chr1:114705129
NRASNoonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000291946
19.
GRCh37:
Chr1:115247855
GRCh38:
Chr1:114705234
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291947
20.
GRCh37:
Chr1:115247871
GRCh38:
Chr1:114705250
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291948
21.
GRCh37:
Chr1:115247899
GRCh38:
Chr1:114705278
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000874294
22.
GRCh37:
Chr1:115247904
GRCh38:
Chr1:114705283
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874295
23.
GRCh37:
Chr1:115247910
GRCh38:
Chr1:114705289
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291949
24.
GRCh37:
Chr1:115247931
GRCh38:
Chr1:114705310
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291950
25.
GRCh37:
Chr1:115247948
GRCh38:
Chr1:114705327
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874296
26.
GRCh37:
Chr1:115248001
GRCh38:
Chr1:114705380
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291951
27.
GRCh37:
Chr1:115248038
GRCh38:
Chr1:114705417
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291952
28.
GRCh37:
Chr1:115248048
GRCh38:
Chr1:114705427
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291953
29.
GRCh37:
Chr1:115248053
GRCh38:
Chr1:114705432
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291954
30.
GRCh37:
Chr1:115248085
GRCh38:
Chr1:114705464
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291955
31.
GRCh37:
Chr1:115248097
GRCh38:
Chr1:114705476
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875227
32.
GRCh37:
Chr1:115248126
GRCh38:
Chr1:114705505
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875228
33.
GRCh37:
Chr1:115248169
GRCh38:
Chr1:114705548
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291956
34.
GRCh37:
Chr1:115248192
GRCh38:
Chr1:114705571
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875229
35.
GRCh37:
Chr1:115248198
GRCh38:
Chr1:114705577
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000876186
36.
GRCh37:
Chr1:115248200-115248205
GRCh38:
Chr1:114705579-114705584
NRASNoonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000291957
37.
GRCh37:
Chr1:115248202
GRCh38:
Chr1:114705581
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291958
38.
GRCh37:
Chr1:115248251
GRCh38:
Chr1:114705630
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291959
39.
GRCh37:
Chr1:115248303
GRCh38:
Chr1:114705682
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876187
40.
GRCh37:
Chr1:115248387
GRCh38:
Chr1:114705766
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876188
41.
GRCh37:
Chr1:115248388
GRCh38:
Chr1:114705767
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000291960
42.
GRCh37:
Chr1:115248489
GRCh38:
Chr1:114705868
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876189
43.
GRCh37:
Chr1:115248527
GRCh38:
Chr1:114705906
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876190
44.
GRCh37:
Chr1:115248537
GRCh38:
Chr1:114705916
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291961
45.
GRCh37:
Chr1:115248741
GRCh38:
Chr1:114706120
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876327
46.
GRCh37:
Chr1:115248779
GRCh38:
Chr1:114706158
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876328
47.
GRCh37:
Chr1:115248801
GRCh38:
Chr1:114706180
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876329
48.
GRCh37:
Chr1:115248828
GRCh38:
Chr1:114706207
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876330
49.
GRCh37:
Chr1:115248870
GRCh38:
Chr1:114706249
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876331
50.
GRCh37:
Chr1:115249059
GRCh38:
Chr1:114706438
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291962
51.
GRCh37:
Chr1:115249072
GRCh38:
Chr1:114706451
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291963
52.
GRCh37:
Chr1:115249086
GRCh38:
Chr1:114706465
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874356
53.
GRCh37:
Chr1:115249144
GRCh38:
Chr1:114706523
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874357
54.
GRCh37:
Chr1:115249206
GRCh38:
Chr1:114706585
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874358
55.
GRCh37:
Chr1:115249249
GRCh38:
Chr1:114706628
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874359
56.
GRCh37:
Chr1:115249333
GRCh38:
Chr1:114706712
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000291964
57.
GRCh37:
Chr1:115249610
GRCh38:
Chr1:114706989
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874360
58.
GRCh37:
Chr1:115249652-115249653
GRCh38:
Chr1:114707031-114707032
NRASNoonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000291965
59.
GRCh37:
Chr1:115249779-115249780
GRCh38:
Chr1:114707158-114707159
NRASNoonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000291966
60.
GRCh37:
Chr1:115249843
GRCh38:
Chr1:114707222
NRASNoonan syndrome 6Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000291967
61.
GRCh37:
Chr1:115249941
GRCh38:
Chr1:114707320
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291968
62.
GRCh37:
Chr1:115249975
GRCh38:
Chr1:114707354
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291969
63.
GRCh37:
Chr1:115250028
GRCh38:
Chr1:114707407
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875279
64.
GRCh37:
Chr1:115250064
GRCh38:
Chr1:114707443
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875280
65.
GRCh37:
Chr1:115250132
GRCh38:
Chr1:114707511
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291970
66.
GRCh37:
Chr1:115250179
GRCh38:
Chr1:114707558
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291971
67.
GRCh37:
Chr1:115250299
GRCh38:
Chr1:114707678
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291972
68.
GRCh37:
Chr1:115250369
GRCh38:
Chr1:114707748
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000291973
69.
GRCh37:
Chr1:115250371
GRCh38:
Chr1:114707750
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291974
70.
GRCh37:
Chr1:115250375
GRCh38:
Chr1:114707754
NRASNoonan syndrome 6Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000876239
71.
GRCh37:
Chr1:115250604
GRCh38:
Chr1:114707983
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000291975
72.
GRCh37:
Chr1:115250755
GRCh38:
Chr1:114708134
NRASnot providedLikely benign
(Dec 29, 2016)
criteria provided, single submitterVCV000381903
73.
GRCh37:
Chr1:115250813
GRCh38:
Chr1:114708192
NRASnot specifiedLikely benign
(Dec 31, 2015)
criteria provided, single submitterVCV000378279
74.
GRCh37:
Chr1:115251151-115251187
GRCh38:
Chr1:114708530-114708566
NRASRasopathyUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV001010637
75.
GRCh37:
Chr1:115251161
GRCh38:
Chr1:114708540
NRASM189Vnot providedUncertain significance
(Jul 6, 2018)
criteria provided, single submitterVCV000561354
76.
GRCh37:
Chr1:115251164
GRCh38:
Chr1:114708543
NRASV188Mnot providedUncertain significance
(Jan 15, 2015)
no assertion criteria providedVCV000180717
77.
GRCh37:
Chr1:115251165
GRCh38:
Chr1:114708544
NRASRasopathyUncertain significance
(Jul 16, 2018)
criteria provided, single submitterVCV000644733
78.
GRCh37:
Chr1:115251173
GRCh38:
Chr1:114708552
NRASP185SNoonan syndrome, not specified, Noonan syndrome 6,
Rasopathy
Conflicting interpretations of pathogenicity
(Dec 26, 2018)
criteria provided, conflicting interpretationsVCV000179025
79.
GRCh37:
Chr1:115251195
GRCh38:
Chr1:114708574
NRASRasopathyLikely benign
(Feb 18, 2019)
criteria provided, single submitterVCV001090778
80.
GRCh37:
Chr1:115251201
GRCh38:
Chr1:114708580
NRASnot providedLikely benign
(Dec 29, 2016)
criteria provided, single submitterVCV000392204
81.
GRCh37:
Chr1:115251222
GRCh38:
Chr1:114708601
NRASM168Inot specified, not providedUncertain significance
(Aug 30, 2017)
criteria provided, single submitterVCV000134991
82.
GRCh37:
Chr1:115251223
GRCh38:
Chr1:114708602
NRASM168Knot specifiedUncertain significance
(Feb 8, 2021)
criteria provided, single submitterVCV000997897
83.
GRCh37:
Chr1:115251236
GRCh38:
Chr1:114708615
NRASR164Cnot provided, Neurodevelopmental disorderConflicting interpretations of pathogenicity
(Mar 1, 2021)
criteria provided, conflicting interpretationsVCV001064816
84.
GRCh37:
Chr1:115251262
GRCh38:
Chr1:114708641
NRASA155Vnot providedUncertain significance
(Jan 13, 2020)
criteria provided, single submitterVCV000450081
85.
GRCh37:
Chr1:115251265
GRCh38:
Chr1:114708644
NRASD154GRasopathyUncertain significance
(Apr 20, 2017)
criteria provided, single submitterVCV000477665
86.
GRCh37:
Chr1:115251269
GRCh38:
Chr1:114708648
NRASE153KNoonan syndromeUncertain significanceno assertion criteria providedVCV000981573
87.
GRCh37:
Chr1:115251294-115251296
GRCh38:
Chr1:114708673-114708675
NRASnot providedLikely benign
(Oct 24, 2017)
criteria provided, single submitterVCV000418807
88.
GRCh37:
Chr1:115251319
GRCh38:
Chr1:114708698
NRASnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561382
89.
GRCh37:
Chr1:115251475
GRCh38:
Chr1:114708854
NRASnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000561430
90.
GRCh37:
Chr1:115251609
GRCh38:
Chr1:114708988
NRASnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561884
91.
GRCh37:
Chr1:115252172
GRCh38:
Chr1:114709551
NRASnot providedBenign
(Nov 22, 2016)
criteria provided, single submitterVCV000378278
92.
GRCh37:
Chr1:115252178
GRCh38:
Chr1:114709557
NRASnot providedLikely benignno assertion criteria providedVCV001284606
93.
GRCh37:
Chr1:115252183
GRCh38:
Chr1:114709562
NRASRasopathyLikely benign
(Jan 21, 2020)
criteria provided, single submitterVCV001099851
94.
GRCh37:
Chr1:115252196
GRCh38:
Chr1:114709575
NRASnot providedLikely benign
(Jun 7, 2018)
criteria provided, single submitterVCV000761147
95.
GRCh37:
Chr1:115252197
GRCh38:
Chr1:114709576
NRAST148INoonan syndromeLikely benignno assertion criteria providedVCV000981572
96.
GRCh37:
Chr1:115252198
GRCh38:
Chr1:114709577
NRAST148Anot providedUncertain significance
(Apr 4, 2018)
criteria provided, single submitterVCV000181461
97.
GRCh37:
Chr1:115252206
GRCh38:
Chr1:114709585
NRASS145LRasopathyUncertain significance
(Jul 4, 2019)
criteria provided, single submitterVCV000543964
98.
GRCh37:
Chr1:115252208
GRCh38:
Chr1:114709587
NRASnot specifiedLikely benign
(Feb 27, 2018)
criteria provided, single submitterVCV000515883
99.
GRCh37:
Chr1:115252229
GRCh38:
Chr1:114709608
NRASRasopathyLikely benign
(May 11, 2020)
criteria provided, single submitterVCV001096908
100.
GRCh37:
Chr1:115252247
GRCh38:
Chr1:114709626
NRASRasopathyLikely benign
(May 30, 2017)
criteria provided, single submitterVCV000477664
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