"GeneDx"[submitter] AND "PIK3R2"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1267586	NM_005027.4(PIK3R2):c.-423-242_-423-241dup	PIK3R2	Duplication (intron variant)	not provided	GBenign
Select item 1229650	NM_005027.4(PIK3R2):c.-423-241dup	PIK3R2	Duplication (intron variant)	not provided	GBenign
Select item 1219807	NM_005027.4(PIK3R2):c.-18C>T	PIK3R2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2429569	NM_005027.4(PIK3R2):c.11_12del (p.Pro4fs)	PIK3R2 (P4fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 468317	NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)	PIK3R2 (V54M)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GBenign FDA Recognized database
Select item 1305078	NM_005027.4(PIK3R2):c.175G>A (p.Gly59Ser)	PIK3R2 (G59S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369663	NM_005027.4(PIK3R2):c.241_263del (p.Val81fs)	PIK3R2 (V81fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 423600	NM_005027.4(PIK3R2):c.278C>T (p.Pro93Leu)	PIK3R2 (P93L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 468324	NM_005027.4(PIK3R2):c.291C>T (p.Pro97=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign/Likely benign
Select item 969916	NM_005027.4(PIK3R2):c.302G>A (p.Arg101His)	PIK3R2 (R101H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1253685	NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp)	PIK3R2 (A104D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1305000	NM_005027.4(PIK3R2):c.313C>T (p.Pro105Ser)	PIK3R2 (P105S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1197528	NM_005027.4(PIK3R2):c.322+223C>T	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206787	NM_005027.4(PIK3R2):c.323-205A>C	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136042	NM_005027.4(PIK3R2):c.389A>C (p.Lys130Thr)	PIK3R2 (K130T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1267719	NM_005027.4(PIK3R2):c.415+35G>A	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 235784	NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser)	PIK3R2 (P151S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2662758	NM_005027.4(PIK3R2):c.476T>C (p.Leu159Pro)	PIK3R2 (L159P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2506717	NM_005027.4(PIK3R2):c.550C>T (p.Pro184Ser)	LOC130063979, PIK3R2 (P184S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1314320	NM_005027.4(PIK3R2):c.554T>C (p.Leu185Pro)	LOC130063979, PIK3R2 (L185P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1240500	NM_005027.4(PIK3R2):c.598+24G>A	LOC130063979, PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707257	NM_005027.4(PIK3R2):c.627G>A (p.Leu209=)	LOC130063979, PIK3R2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1170503	NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys)	LOC130063979, PIK3R2 (R231C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
Select item 1190673	NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp)	LOC130063979, PIK3R2 (A245D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3252715	NM_005027.4(PIK3R2):c.813C>G (p.Asp271Glu)	LOC130063979, PIK3R2 (D271E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575840	NM_005027.4(PIK3R2):c.816-4_819delinsACTC	PIK3R2	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 596881	NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)	PIK3R2 (S273C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 787854	NM_005027.4(PIK3R2):c.843G>A (p.Ala281=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 718195	NM_005027.4(PIK3R2):c.872A>G (p.His291Arg)	PIK3R2 (H291R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1252773	NM_005027.4(PIK3R2):c.902-40C>T	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320609	NM_005027.4(PIK3R2):c.902-35G>A	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 468326	NM_005027.4(PIK3R2):c.903G>A (p.Ala301=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
Select item 1308825	NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr)	PIK3R2 (P348T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1283740	NM_005027.4(PIK3R2):c.1109+94A>G	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246295	NM_005027.4(PIK3R2):c.1109+223T>A	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257270	NM_005027.4(PIK3R2):c.1110-145G>A	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 39808	NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	PIK3R2 (G373R)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 280374	NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu)	PIK3R2 (K376E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 729647	NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1296705	NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr)	PIK3R2 (A415T)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1305109	NM_005027.4(PIK3R2):c.1291-11C>G	PIK3R2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 620407	NM_005027.4(PIK3R2):c.1359C>A (p.Tyr453Ter)	PIK3R2 (Y453*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3372132	NM_005027.4(PIK3R2):c.1396G>A (p.Glu466Lys)	PIK3R2 (E466K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1220825	NM_005027.4(PIK3R2):c.1416+11C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
Select item 1241465	NM_005027.4(PIK3R2):c.1416+15G>A	PIK3R2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1191050	NM_005027.4(PIK3R2):c.1416+86T>C	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289216	NM_005027.4(PIK3R2):c.1417-114T>C	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232672	NM_005027.4(PIK3R2):c.1417-87C>G	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579559	NM_005027.4(PIK3R2):c.1454A>G (p.Asn485Ser)	PIK3R2 (N485S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303803	NM_005027.4(PIK3R2):c.1458G>C (p.Glu486Asp)	PIK3R2 (E486D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283476	NM_005027.4(PIK3R2):c.1559+94G>A	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189178	NM_005027.4(PIK3R2):c.1560-213T>G	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178034	NM_005027.4(PIK3R2):c.1560-17C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign/Likely benign
Select item 468318	NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val)	PIK3R2 (A548V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1344841	NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr)	PIK3R2 (D557Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1307678	NM_005027.4(PIK3R2):c.1669G>A (p.Asp557Asn)	PIK3R2 (D557N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 424553	NM_005027.4(PIK3R2):c.1669G>C (p.Asp557His)	PIK3R2 (D557H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1302636	NM_005027.4(PIK3R2):c.1680G>C (p.Met560Ile)	PIK3R2 (M560I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280388	NM_005027.4(PIK3R2):c.1690A>G (p.Lys564Glu)	PIK3R2 (K564E)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2446157	NM_005027.4(PIK3R2):c.1694C>T (p.Pro565Leu)	PIK3R2 (P565L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 429932	NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg)	PIK3R2 (P565R)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1304688	NM_005027.4(PIK3R2):c.1707G>T (p.Gln569His)	PIK3R2 (Q569H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445572	NM_005027.4(PIK3R2):c.1736+12C>T	PIK3R2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1190559	NM_005027.4(PIK3R2):c.1737-146G>C	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219214	NM_005027.4(PIK3R2):c.1737-67G>A	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311187	NM_005027.4(PIK3R2):c.1802C>A (p.Thr601Asn)	LOC130063980, PIK3R2 (T601N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1266719	NM_005027.4(PIK3R2):c.1809-17A>G	PIK3R2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278823	NM_005027.4(PIK3R2):c.1809-7A>C	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311007	NM_005027.4(PIK3R2):c.1816G>T (p.Ala606Ser)	PIK3R2 (A606S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369674	NM_005027.4(PIK3R2):c.1836C>G (p.Asp612Glu)	PIK3R2 (D612E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 518294	NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 707750	NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 431911	NM_005027.4(PIK3R2):c.1948A>G (p.Ser650Gly)	PIK3R2 (S650G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 715106	NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
Select item 1228259	NM_005027.4(PIK3R2):c.1980-81A>G	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254121	NM_005027.4(PIK3R2):c.1980-36C>T	PIK3R2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186351	NM_005027.4(PIK3R2):c.1980-28C>T	PIK3R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229199	NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
Select item 3343396	NM_005027.4(PIK3R2):c.2000A>G (p.His667Arg)	PIK3R2 (H667R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 468321	NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more	GBenign
Select item 2444849	NM_005027.4(PIK3R2):c.2111A>G (p.His704Arg)	PIK3R2 (H704R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 518295	NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 468322	NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1194732	NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu)	PIK3R2 (P723L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 468323	NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr)	PIK3R2 (A727T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1707972	NM_005027.4(PIK3R2):c.2183G>T (p.Arg728Leu)	PIK3R2 (R728L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205105	NM_005027.4(PIK3R2):c.*6G>A	PIK3R2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1232324	NM_005027.4(PIK3R2):c.*126T>A	PIK3R2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3361271	NM_005027.4(PIK3R2):c.1931del (p.Phe644fs)	PIK3R2 (F644fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3360043	NM_005027.4(PIK3R2):c.1556A>G (p.Gln519Arg)	PIK3R2 (Q519R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359404	NM_005027.4(PIK3R2):c.598+2T>C	PIK3R2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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Items: 91