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Links from Gene

Items: 10

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:18273263
GRCh38:
Chr19:18162453
PIK3R2F352LMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1Likely pathogenic
(Dec 3, 2018)
criteria provided, single submitterVCV000625283
2.
GRCh37:
Chr19:18280085
GRCh38:
Chr19:18169275
PIK3R2P723Rnot providedUncertain significance
(Sep 30, 2018)
criteria provided, single submitterVCV000624131
3.
GRCh37:
Chr19:18272260-18272262
GRCh38:
Chr19:18161450-18161452
PIK3R2P261delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591729
4.
GRCh37:
Chr19:18272265-18272266
GRCh38:
Chr19:18161455-18161456
PIK3R2not providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591490
5.
GRCh37:
Chr19:18280100
GRCh38:
Chr19:18169290
PIK3R2R728Hnot providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000493250
6.
GRCh37:
Chr19:18278128
GRCh38:
Chr19:18167318
PIK3R2not providedLikely benign
(May 4, 2017)
criteria provided, single submitterVCV000445572
7.
GRCh37:
Chr19:18271996
GRCh38:
Chr19:18161186
PIK3R2not providedUncertain significance
(May 31, 2017)
criteria provided, single submitterVCV000444458
8.
GRCh37:
Chr19:18266883
GRCh38:
Chr19:18156073
PIK3R2R65Qnot providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitterVCV000444457
9.
GRCh37:
Chr19:18278061
GRCh38:
Chr19:18167251
PIK3R2N561DEndometrial Endometrioid Adenocarcinoma, Variant with Squamous DifferentiationLikely pathogenic
(Dec 26, 2014)
no assertion criteria providedVCV000376165
10.
GRCh37:
Chr19:18273961
GRCh38:
Chr19:18163151
PIK3R2not providedUncertain significance
(May 6, 2016)
criteria provided, single submitterVCV000235355
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