PIK3R2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
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 3045637	NM_005027.4(PIK3R2):c.-5C>T	PIK3R2	Single nucleotide variant (5 prime UTR variant +1 more)	PIK3R2-related disorder	GLikely benign
Select item 707439	NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser)	PIK3R2 (P4S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
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 1032968	NM_005027.4(PIK3R2):c.29G>A (p.Arg10His)	PIK3R2 (R10H)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2799840	NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)	PIK3R2 (A11S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2547435	NM_005027.4(PIK3R2):c.34C>G (p.Leu12Val)	PIK3R2 (L12V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1559061	NM_005027.4(PIK3R2):c.36G>A (p.Leu12=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1590556	NM_005027.4(PIK3R2):c.42G>C (p.Pro14=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 808503	NM_005027.4(PIK3R2):c.42G>A (p.Pro14=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3014077	NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)	PIK3R2 (R16G)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1565321	NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys)	PIK3R2 (R16C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3350766	NM_005027.4(PIK3R2):c.48C>T (p.Arg16=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	PIK3R2-related disorder	GLikely benign
Select item 2038641	NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)	PIK3R2 (R19W)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 287470	NM_005027.4(PIK3R2):c.55C>A (p.Arg19=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1037102	NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln)	PIK3R2 (R19Q)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2699052	NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1015086	NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu)	PIK3R2 (P20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2048024	NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 930706	NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs)	PIK3R2 (V30fs)	Duplication (frameshift variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 3032108	NM_005027.4(PIK3R2):c.72G>A (p.Glu24=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	PIK3R2-related disorder	GLikely benign
Select item 1417925	NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser)	PIK3R2 (G28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2041564	NM_005027.4(PIK3R2):c.87C>T (p.Asp29=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2730868	NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)	PIK3R2 (R35W)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1503275	NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln)	PIK3R2 (R35Q)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 859412	NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val)	PIK3R2 (A36V)	Single nucleotide variant (non-coding transcript variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1110512	NM_005027.4(PIK3R2):c.108G>A (p.Ala36=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2137569	NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)	PIK3R2 (A40V)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1983421	NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1404826	NM_005027.4(PIK3R2):c.126C>T (p.Gly42=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2154485	NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2417964	NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 851028	NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys)	PIK3R2 (R49C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2228098	NM_005027.4(PIK3R2):c.149G>A (p.Cys50Tyr)	PIK3R2 (C50Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1334637	NM_005027.4(PIK3R2):c.151C>G (p.Pro51Ala)	PIK3R2 (P51A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000834	NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)	PIK3R2 (Q52K)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 1915454	NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
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 2999536	NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
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 1594727	NM_005027.4(PIK3R2):c.177C>T (p.Gly59=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2649566	NM_005027.4(PIK3R2):c.184G>A (p.Glu62Lys)	PIK3R2 (E62K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062855	NM_005027.4(PIK3R2):c.186G>A (p.Glu62=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2672751	NM_005027.4(PIK3R2):c.193C>T (p.Arg65Trp)	PIK3R2 (R65W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 444457	NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln)	PIK3R2 (R65Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1369322	NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter)	PIK3R2 (R67*)	Single nucleotide variant (nonsense +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2421211	NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1674066	NM_005027.4(PIK3R2):c.240C>T (p.Pro80=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2498767	NM_005027.4(PIK3R2):c.241G>A (p.Val81Met)	PIK3R2 (V81M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2689753	NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)	PIK3R2 (G87fs)	Microsatellite (frameshift variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2312088	NM_005027.4(PIK3R2):c.254G>A (p.Arg85Gln)	PIK3R2 (R85Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 737916	NM_005027.4(PIK3R2):c.258C>T (p.Pro86=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2072868	NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)	PIK3R2 (G87S)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1534490	NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys)	PIK3R2 (R89C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2729697	NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)	PIK3R2 (R89H)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2018760	NM_005027.4(PIK3R2):c.267C>T (p.Arg89=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1392796	NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp)	PIK3R2 (R91W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2113810	NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)	PIK3R2 (G92C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 3031605	NM_005027.4(PIK3R2):c.275G>T (p.Gly92Val)	PIK3R2 (G92V)	Single nucleotide variant (missense variant +1 more)	PIK3R2-related disorder	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 2561133	NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)	PIK3R2 (R94C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2470134	NM_005027.4(PIK3R2):c.284C>T (p.Pro95Leu)	PIK3R2 (P95L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212987	NM_005027.4(PIK3R2):c.286C>G (p.Leu96Val)	PIK3R2 (L96V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2632216	NM_005027.4(PIK3R2):c.292G>T (p.Ala98Ser)	PIK3R2 (A98S)	Single nucleotide variant (missense variant +1 more)	PIK3R2-related disorder	GUncertain significance
Select item 2058988	NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)	PIK3R2 (A98T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1534767	NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys)	PIK3R2 (R101C)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely 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 1166925	NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn)	PIK3R2 (D102N)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 2262556	NM_005027.4(PIK3R2):c.305A>C (p.Asp102Ala)	PIK3R2 (D102A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1296987	NM_005027.4(PIK3R2):c.320C>T (p.Pro107Leu)	PIK3R2 (P107L)	Single nucleotide variant (missense variant +1 more)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 767212	NM_005027.4(PIK3R2):c.322+7A>G	PIK3R2	Single nucleotide variant (intron variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GLikely benign FDA Recognized database
Select item 2038610	NM_005027.4(PIK3R2):c.322+18G>C	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1610487	NM_005027.4(PIK3R2):c.322+18G>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
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 1629692	NM_005027.4(PIK3R2):c.323-16_323-15del	PIK3R2	Deletion (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 1674972	NM_005027.4(PIK3R2):c.323-15del	PIK3R2	Deletion (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GBenign
Select item 1901410	NM_005027.4(PIK3R2):c.323-8C>T	PIK3R2	Single nucleotide variant (intron variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2611332	NM_005027.4(PIK3R2):c.325C>T (p.Leu109Phe)	PIK3R2 (L109F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2887225	NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 1715916	NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)	PIK3R2 (T110A)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2715313	NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)	PIK3R2 (T110R)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2474819	NM_005027.4(PIK3R2):c.329C>T (p.Thr110Ile)	PIK3R2 (T110I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 596377	NM_005027.4(PIK3R2):c.336C>T (p.Pro112=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2434860	NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala)	PIK3R2 (D113A)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2130237	NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 2046407	NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)	PIK3R2 (E116K)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1951759	NM_005027.4(PIK3R2):c.372T>C (p.Ala124=)	PIK3R2	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign
Select item 684555	NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)	PIK3R2 (L127F)	Single nucleotide variant (missense variant +1 more)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GLikely benign

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