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Items: 1 to 100 of 8648

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:21894606
GRCh38:
Chr1:21568113
ALPLG220R, G143R, G165Rnot provided, Infantile hypophosphatasia, Noonan syndrome 1
Conflicting interpretations of pathogenicity
(Jul 28, 2022)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr1:22417945
GRCh38:
Chr1:22091452
CDC42E171KNoonan-like syndromePathogenic
(Nov 1, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr1:115247215
GRCh38:
Chr1:114704594
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr1:115247216
GRCh38:
Chr1:114704595
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr1:115247285
GRCh38:
Chr1:114704664
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr1:115247311
GRCh38:
Chr1:114704690
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:115247323
GRCh38:
Chr1:114704702
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr1:115247331
GRCh38:
Chr1:114704710
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:115247349
GRCh38:
Chr1:114704728
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr1:115247353
GRCh38:
Chr1:114704732
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr1:115247374
GRCh38:
Chr1:114704753
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr1:115247409
GRCh38:
Chr1:114704788
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr1:115247496
GRCh38:
Chr1:114704875
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr1:115247612
GRCh38:
Chr1:114704991
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:115247653
GRCh38:
Chr1:114705032
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:115247695
GRCh38:
Chr1:114705074
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr1:115247750
GRCh38:
Chr1:114705129
NRASNoonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:115247855
GRCh38:
Chr1:114705234
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr1:115247871
GRCh38:
Chr1:114705250
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr1:115247899
GRCh38:
Chr1:114705278
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr1:115247904
GRCh38:
Chr1:114705283
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr1:115247910
GRCh38:
Chr1:114705289
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr1:115247931
GRCh38:
Chr1:114705310
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr1:115247948
GRCh38:
Chr1:114705327
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr1:115248001
GRCh38:
Chr1:114705380
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr1:115248038
GRCh38:
Chr1:114705417
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr1:115248048
GRCh38:
Chr1:114705427
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr1:115248053
GRCh38:
Chr1:114705432
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr1:115248085
GRCh38:
Chr1:114705464
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr1:115248097
GRCh38:
Chr1:114705476
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr1:115248126
GRCh38:
Chr1:114705505
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr1:115248169
GRCh38:
Chr1:114705548
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr1:115248192
GRCh38:
Chr1:114705571
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr1:115248198
GRCh38:
Chr1:114705577
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr1:115248200-115248205
GRCh38:
Chr1:114705579-114705584
NRASNoonan syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:115248202
GRCh38:
Chr1:114705581
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr1:115248251
GRCh38:
Chr1:114705630
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr1:115248303
GRCh38:
Chr1:114705682
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr1:115248387
GRCh38:
Chr1:114705766
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr1:115248388
GRCh38:
Chr1:114705767
NRASNoonan syndrome 6Likely benign
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr1:115248489
GRCh38:
Chr1:114705868
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr1:115248527
GRCh38:
Chr1:114705906
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:115248537
GRCh38:
Chr1:114705916
NRASNoonan syndrome 6Uncertain significance
(Jun 20, 2020)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:115248741
GRCh38:
Chr1:114706120
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr1:115248779
GRCh38:
Chr1:114706158
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr1:115248801
GRCh38:
Chr1:114706180
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr1:115248828
GRCh38:
Chr1:114706207
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr1:115248870
GRCh38:
Chr1:114706249
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr1:115249059
GRCh38:
Chr1:114706438
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:115249072
GRCh38:
Chr1:114706451
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr1:115249086
GRCh38:
Chr1:114706465
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr1:115249144
GRCh38:
Chr1:114706523
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr1:115249206
GRCh38:
Chr1:114706585
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr1:115249249
GRCh38:
Chr1:114706628
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr1:115249333
GRCh38:
Chr1:114706712
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr1:115249610
GRCh38:
Chr1:114706989
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr1:115249652-115249653
GRCh38:
Chr1:114707031-114707032
NRASNoonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr1:115249779-115249780
GRCh38:
Chr1:114707158-114707159
NRASNoonan syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr1:115249843
GRCh38:
Chr1:114707222
NRASNoonan syndrome 6Benign
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr1:115249941
GRCh38:
Chr1:114707320
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr1:115249975
GRCh38:
Chr1:114707354
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr1:115250028
GRCh38:
Chr1:114707407
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:115250064
GRCh38:
Chr1:114707443
NRASNoonan syndrome 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr1:115250132
GRCh38:
Chr1:114707511
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr1:115250179
GRCh38:
Chr1:114707558
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr1:115250299
GRCh38:
Chr1:114707678
NRASNoonan syndrome 6Likely benign
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr1:115250369
GRCh38:
Chr1:114707748
NRASNoonan syndrome 6Benign
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr1:115250371
GRCh38:
Chr1:114707750
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr1:115250375
GRCh38:
Chr1:114707754
NRASNoonan syndrome 6Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr1:115250604
GRCh38:
Chr1:114707983
NRASNoonan syndrome 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr1:115251151-115251187
GRCh38:
Chr1:114708530-114708566
NRASRASopathyUncertain significance
(Aug 20, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr1:115251162
GRCh38:
Chr1:114708541
NRASRASopathy, Cardiovascular phenotypeLikely benign
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:115251164
GRCh38:
Chr1:114708543
NRASV188LRASopathyUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr1:115251165
GRCh38:
Chr1:114708544
NRASRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:115251173
GRCh38:
Chr1:114708552
NRASP185Snot specified, RASopathy, Noonan syndrome 6
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr1:115251182
GRCh38:
Chr1:114708561
NRASM182LRASopathyUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:115251195
GRCh38:
Chr1:114708574
NRASRASopathyLikely benign
(Feb 18, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr1:115251196-115251197
GRCh38:
Chr1:114708575-114708576
NRASRASopathyUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:115251207
GRCh38:
Chr1:114708586
NRASRASopathyLikely benign
(Jul 13, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:115251223
GRCh38:
Chr1:114708602
NRASM168Knot specifiedUncertain significance
(Feb 8, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:115251227
GRCh38:
Chr1:114708606
NRASR167*RASopathyUncertain significance
(Aug 19, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr1:115251236
GRCh38:
Chr1:114708615
NRASR164CRASopathy, Neurodevelopmental disorderConflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr1:115251248
GRCh38:
Chr1:114708627
NRASV160IRASopathy, not providedUncertain significance
(Nov 27, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:115251261
GRCh38:
Chr1:114708640
NRASRASopathyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:115251262
GRCh38:
Chr1:114708641
NRASA155Vnot provided, RASopathyUncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:115251265
GRCh38:
Chr1:114708644
NRASD154GRASopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr1:115251269
GRCh38:
Chr1:114708648
NRASE153KNoonan syndromeUncertain significanceno assertion criteria provided
88.
GRCh37:
Chr1:115251272
GRCh38:
Chr1:114708651
NRASV152FRASopathyUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:115251285
GRCh38:
Chr1:114708664
NRASRASopathyLikely benign
(Jul 23, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:115251286
GRCh38:
Chr1:114708665
NRASRASopathyLikely benign
(Nov 24, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr1:115251287
GRCh38:
Chr1:114708666
NRASRASopathyLikely benign
(Oct 9, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr1:115251289
GRCh38:
Chr1:114708668
NRASRASopathyLikely benign
(Nov 20, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:115251292
GRCh38:
Chr1:114708671
NRASRASopathyLikely benign
(Jun 29, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:115251293-115251294
GRCh38:
Chr1:114708672-114708673
NRASRASopathyBenign
(Apr 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:115251294-115251296
GRCh38:
Chr1:114708673-114708675
NRASnot provided, RASopathy, not specified
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:115252172
GRCh38:
Chr1:114709551
NRASnot provided, RASopathyBenign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr1:115252183
GRCh38:
Chr1:114709562
NRASRASopathyLikely benign
(Aug 16, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:115252184
GRCh38:
Chr1:114709563
NRASRASopathyUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:115252184
GRCh38:
Chr1:114709563
NRASRASopathyUncertain significance
(May 18, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:115252190
GRCh38:
Chr1:114709569
NRASQ150HRASopathyUncertain significance
(Oct 30, 2022)
criteria provided, single submitter
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