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Links from MedGen

Items: 40

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:178938895
GRCh38:
Chr3:179221107
PIK3CAI713VMegalencephaly-capillary malformation-polymicrogyria syndromeUncertain significance
(Sep 2, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr3:178938931
GRCh38:
Chr3:179221143
PIK3CAD725NMegalencephaly-capillary malformation-polymicrogyria syndromeLikely pathogenic
(Nov 27, 2020)		criteria provided, single submitter
3.
GRCh37:
Chr3:178928068
GRCh38:
Chr3:179210280
PIK3CAP449LMegalencephaly-capillary malformation-polymicrogyria syndromePathogenic
(Feb 9, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr3:178947841
GRCh38:
Chr3:179230053
PIK3CAV906LMegalencephaly-capillary malformation-polymicrogyria syndromeUncertain significancecriteria provided, single submitter
5.
GRCh37:
Chr3:178952072
GRCh38:
Chr3:179234284
PIK3CAM1043LMegalencephaly-capillary malformation-polymicrogyria syndromeLikely pathogenic
(Jan 3, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr3:178928067
GRCh38:
Chr3:179210279
PIK3CAP449TMegalencephaly-capillary malformation-polymicrogyria syndromePathogenic/Likely pathogenic
(Jan 3, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:178952049
GRCh38:
Chr3:179234261
PIK3CAA1035VPIK3CA related overgrowth syndromePathogeniccriteria provided, single submitter
8.
GRCh37:
Chr3:178916957
GRCh38:
Chr3:179199169
PIK3CAR115PPIK3CA-related disorderLikely pathogenic
(May 5, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr3:178948044
GRCh38:
Chr3:179230256
PIK3CAD939GSegmental undergrowth associated with mainly venous malformation with capillary component, See cases, Megalencephaly-capillary malformation-polymicrogyria syndrome
Pathogenic/Likely pathogenic
(Dec 7, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:178922363
GRCh38:
Chr3:179204575
PIK3CAC378RMegalencephaly-capillary malformation-polymicrogyria syndrome, CLOVES syndromePathogeniccriteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:178928067
GRCh38:
Chr3:179210279
PIK3CAP449Snot provided, Megalencephaly-capillary malformation-polymicrogyria syndromePathogenic/Likely pathogenic
(Nov 29, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:178916614
GRCh38:
Chr3:179198826
PIK3CAM1VEpidermal nevus, Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome
Uncertain significance
(Oct 9, 2023)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:178922321
GRCh38:
Chr3:179204533
PIK3CAG364RMegalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome, not provided
Pathogenic/Likely pathogenic
(Oct 2, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:178917561
GRCh38:
Chr3:179199773
PIK3CAV146ICowden syndrome, Seborrheic keratosis, CLAPO syndrome,
CLOVES syndrome, Neoplasm of stomach, Congenital macrodactylia,
Epidermal nevus, Neoplasm of ovary, Carcinoma of colon,
Familial cancer of breast, Cowden syndrome 5Hepatocellular carcinoma,
Megalencephaly-capillary malformation-polymicrogyria syndrome, Lung carcinoma, not provided,
...see more		Uncertain significance
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:178947215
GRCh38:
Chr3:179229427
PIK3CAK884RCongenital macrodactylia, Seborrheic keratosis, Familial cancer of breast,
Stomach cancer, CLAPO syndrome, Cowden syndrome 5,
Hepatocellular carcinoma, Colorectal cancer, CLOVES syndrome,
Lung cancer, Megalencephaly-capillary malformation-polymicrogyria syndromeEpidermal nevus,
Neoplasm of ovary, Inborn genetic diseases, not specified,
Cowden syndrome, not provided, ...see more		Uncertain significance
(May 11, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:178922324
GRCh38:
Chr3:179204536
PIK3CAE365KMegalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA-related condition, Cowden syndrome,
Angioosteohypertrophic syndrome, not provided		Pathogenic
(Feb 2, 2023)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:178921566
GRCh38:
Chr3:179203778
PIK3CAD350NPIK3CA related overgrowth syndrome, not providedPathogenic/Likely pathogenic
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:178922361
GRCh38:
Chr3:179204573
PIK3CAP377RPIK3CA-related condition, Cowden syndrome, Seborrheic keratosis,
Megalencephaly-capillary malformation-polymicrogyria syndrome, CLAPO syndrome, CLOVES syndrome,
Neoplasm of stomach, Cowden syndrome 5, Familial cancer of breast,
Lung carcinoma, Congenital macrodactyliaHepatocellular carcinoma,
Epidermal nevus, Neoplasm of ovary, Carcinoma of colon,
...see more		Uncertain significance
(Nov 23, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:178921552
GRCh38:
Chr3:179203764
PIK3CAN345TMegalencephaly-capillary malformation-polymicrogyria syndrome, Noonan syndrome 8Pathogenic
(Sep 30, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr3:178916854
GRCh38:
Chr3:179199066
PIK3CAE81KCowden syndrome, not provided, CLOVES syndrome
Pathogenic
(Jun 8, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:178938934
GRCh38:
Chr3:179221146
PIK3CAE726KOvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesPathogenic
(Feb 12, 2022)		reviewed by expert panel
FDA Recognized Database
22.
GRCh37:
Chr3:178928079
GRCh38:
Chr3:179210291
PIK3CAE453Knot provided, Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome,
Cowden syndrome, PIK3CA-related disorder, CLOVES syndrome
Pathogenic
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:178952090
GRCh38:
Chr3:179234302
PIK3CAG1049Snot provided, Megalencephaly-capillary malformation-polymicrogyria syndromePathogenic
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:178936074
GRCh38:
Chr3:179218286
PIK3CAP539RMegalencephaly-capillary malformation-polymicrogyria syndromeLikely pathogenic
(Oct 2, 2021)		criteria provided, single submitter
25.
GRCh37:
Chr3:178921553
GRCh38:
Chr3:179203765
PIK3CAN345Knot provided, Familial cancer of breast, Congenital macrodactylia,
Hepatocellular carcinoma, Colorectal cancer, Stomach cancer,
Seborrheic keratosis, Megalencephaly-capillary malformation-polymicrogyria syndrome, Neoplasm of ovary,
Lung cancer, CLAPO syndromeCLOVES syndrome,
Epidermal nevus, Cowden syndrome 5, ...see more		Pathogenic
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:178916876
GRCh38:
Chr3:179199088
PIK3CAR88QCowden syndrome, PIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome,
not provided		Pathogenic
(Jan 10, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:178916936
GRCh38:
Chr3:179199148
PIK3CAR108HSee cases, not provided, Cowden syndrome,
not specified, Megalencephaly-capillary malformation-polymicrogyria syndrome		Conflicting interpretations of pathogenicity
(May 14, 2023)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr1:155874166
GRCh38:
Chr1:155904375
RIT1R122L, R139L, R86Lnot provided, Megalencephaly-capillary malformation-polymicrogyria syndrome, Noonan syndrome 8,
Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8		Conflicting interpretations of pathogenicity
(Aug 8, 2023)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr3:178916948
GRCh38:
Chr3:179199160
PIK3CAI112NMegalencephaly-capillary malformation-polymicrogyria syndromePathogenic
(Oct 1, 2015)		no assertion criteria provided
30.
GRCh37:
Chr3:178936093
GRCh38:
Chr3:179218305
PIK3CAE545DMegalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndromePathogenic/Likely pathogenic
(Jun 24, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:178952074
GRCh38:
Chr3:179234286
PIK3CAM1043IMegalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome, not provided,
Non-small cell lung carcinoma		Pathogenic/Likely pathogenic
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:243776983
GRCh38:
Chr1:243613681
AKT3N229SMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-capillary malformation-polymicrogyria syndromePathogenic
(Nov 1, 2015)		no assertion criteria provided
33.
GRCh37:
Chr19:18273784
GRCh38:
Chr19:18162974
PIK3R2G373ROvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesPathogenic
(Feb 17, 2022)		reviewed by expert panel
FDA Recognized Database
34.
GRCh37:
Chr3:178928078-178928080
GRCh38:
Chr3:179210290-179210292
PIK3CAE453delnot providedPathogenic
(Apr 1, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:178952084
GRCh38:
Chr3:179234296
PIK3CAH1047YPIK3CA related overgrowth syndrome, Congenital macrodactylia, Epidermal nevus,
Neoplasm of ovary, CLOVES syndrome, Familial cancer of breast,
Neoplasm of stomach, Megalencephaly-capillary malformation-polymicrogyria syndrome, Lung carcinoma,
CLAPO syndrome, Hepatocellular carcinomaSeborrheic keratosis,
Carcinoma of colon, Cowden syndrome 5, Cowden syndrome,
not provided, Megalencephaly-capillary malformation-polymicrogyria syndrome, CLOVES syndrome,
Non-small cell lung carcinoma, Segmental undergrowth associated with mainly venous malformation with capillary component, ...see more		Pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:178922364
GRCh38:
Chr3:179204576
PIK3CAC378YPIK3CA related overgrowth syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA-related condition,
Cowden syndrome		Pathogenic
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:178947865
GRCh38:
Chr3:179230077
PIK3CAG914ROvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesPathogenic
(Feb 12, 2022)		reviewed by expert panel
FDA Recognized Database
38.
GRCh37:
Chr3:178936091
GRCh38:
Chr3:179218303
PIK3CAE545KEccrine Angiomatous Hamartoma, PIK3CA related overgrowth syndrome, not provided,
CLOVES syndrome, Segmental undergrowth associated with lymphatic malformation		Pathogenic/Likely pathogenic
(Jan 23, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr3:178952085
GRCh38:
Chr3:179234297
PIK3CAH1047LColorectal cancer, not provided, Megalencephaly-capillary malformation-polymicrogyria syndrome,
Hemihypertrophy, Cowden syndrome 1, Stroke,
Macrodactyly of toe		Pathogenic
(Apr 27, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr3:178952085
GRCh38:
Chr3:179234297
PIK3CAH1047ROvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesPathogenic
(Feb 11, 2022)		reviewed by expert panel
FDA Recognized Database
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