PIK3CB[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
Select item 155613	GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3	CEP70, ESYT3 +19 more	Copy number gain	See cases	GLikely benign
Select item 148956	GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3	CEP70, FAIM +22 more	Copy number gain	See cases	GUncertain significance
Select item 148711	GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3	BPESC1, CEP70 +23 more	Copy number gain	See cases	GUncertain significance
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 731809	NM_006219.3(PIK3CB):c.3205A>C (p.Arg1069=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548891	NM_006219.3(PIK3CB):c.3188C>T (p.Thr1063Ile)	PIK3CB (T1063I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532328	NM_006219.3(PIK3CB):c.3038C>G (p.Pro1013Arg)	PIK3CB (P1013R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482212	NM_006219.3(PIK3CB):c.3017T>G (p.Leu1006Arg)	PIK3CB (L1006R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 798869	NM_006219.3(PIK3CB):c.3015G>C (p.Ala1005=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212955	NM_006219.3(PIK3CB):c.2995C>G (p.Leu999Val)	PIK3CB (L511V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259019	NM_006219.3(PIK3CB):c.2992A>T (p.Asn998Tyr)	PIK3CB (N510Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 638630	NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp)	PIK3CB (E499D +1 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 743970	NM_006219.3(PIK3CB):c.2943-9C>T	PIK3CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3212954	NM_006219.3(PIK3CB):c.2900T>C (p.Val967Ala)	PIK3CB (V479A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756748	NM_006219.3(PIK3CB):c.2796+8G>T	PIK3CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745706	NM_006219.3(PIK3CB):c.2687G>T (p.Arg896Leu)	PIK3CB (R408L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 749757	NM_006219.3(PIK3CB):c.2672+10T>C	PIK3CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2354152	NM_006219.3(PIK3CB):c.2656A>G (p.Lys886Glu)	PIK3CB (K398E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597063	NM_006219.3(PIK3CB):c.2540G>A (p.Arg847His)	PIK3CB (R847H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371961	NM_006219.3(PIK3CB):c.2489C>T (p.Ala830Val)	PIK3CB (A830V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740906	NM_006219.3(PIK3CB):c.2454A>G (p.Gln818=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722053	NM_006219.3(PIK3CB):c.2433A>G (p.Arg811=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757591	NM_006219.3(PIK3CB):c.2425+9T>G	PIK3CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2315840	NM_006219.3(PIK3CB):c.2299A>T (p.Ile767Phe)	PIK3CB (I767F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306611	NM_006219.3(PIK3CB):c.2175A>T (p.Leu725Phe)	PIK3CB (L237F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717584	NM_006219.3(PIK3CB):c.2150A>G (p.Asn717Ser)	PIK3CB (N717S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2359374	NM_006219.3(PIK3CB):c.2099G>A (p.Arg700Gln)	PIK3CB (R212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717285	NM_006219.3(PIK3CB):c.1980A>G (p.Leu660=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723991	NM_006219.3(PIK3CB):c.1932A>G (p.Gln644=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3212953	NM_006219.3(PIK3CB):c.1883G>A (p.Arg628Gln)	PIK3CB (R140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709670	NM_006219.3(PIK3CB):c.1854C>T (p.Tyr618=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388677	NM_006219.3(PIK3CB):c.1804C>T (p.Pro602Ser)	PIK3CB (P602S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322659	NM_006219.3(PIK3CB):c.1742A>G (p.Lys581Arg)	PIK3CB (K581R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212952	NM_006219.3(PIK3CB):c.1568G>A (p.Ser523Asn)	PIK3CB (S523N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212951	NM_006219.3(PIK3CB):c.1562G>A (p.Ser521Asn)	PIK3CB (S521N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732483	NM_006219.3(PIK3CB):c.1524C>T (p.Phe508=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727373	NM_006219.3(PIK3CB):c.1449A>G (p.Pro483=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733340	NM_006219.3(PIK3CB):c.1431A>G (p.Gly477=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732402	NM_006219.3(PIK3CB):c.1302+10T>C	PIK3CB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791954	NM_006219.3(PIK3CB):c.1302+9A>G	PIK3CB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2302397	NM_006219.3(PIK3CB):c.1258A>G (p.Ile420Val)	PIK3CB (I420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306615	NM_006219.3(PIK3CB):c.1224G>T (p.Leu408Phe)	PIK3CB (L408F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590353	NM_006219.3(PIK3CB):c.1140T>G (p.Ile380Met)	PIK3CB (I380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406670	NM_006219.3(PIK3CB):c.1087C>A (p.Leu363Ile)	PIK3CB (L363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212950	NM_006219.3(PIK3CB):c.1049A>T (p.Lys350Ile)	PIK3CB (K350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560046	NM_006219.3(PIK3CB):c.1045G>A (p.Val349Ile)	PIK3CB (V349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306610	NM_006219.3(PIK3CB):c.1012G>A (p.Val338Ile)	PIK3CB (V338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306613	NM_006219.3(PIK3CB):c.926C>G (p.Ser309Cys)	PIK3CB (S309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262724	NM_006219.3(PIK3CB):c.891G>T (p.Met297Ile)	PIK3CB (M297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723237	NM_006219.3(PIK3CB):c.870G>A (p.Lys290=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227155	NM_006219.3(PIK3CB):c.731A>G (p.Tyr244Cys)	PIK3CB (Y244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542436	NM_006219.3(PIK3CB):c.712G>A (p.Glu238Lys)	PIK3CB (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306608	NM_006219.3(PIK3CB):c.696G>T (p.Leu232Phe)	PIK3CB (L232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347253	NM_006219.3(PIK3CB):c.694T>G (p.Leu232Val)	PIK3CB (L232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306381	NM_006219.3(PIK3CB):c.686A>G (p.Gln229Arg)	PIK3CB (Q229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592249	NM_006219.3(PIK3CB):c.667G>A (p.Val223Ile)	PIK3CB (V223I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604190	NM_006219.3(PIK3CB):c.663C>G (p.Ile221Met)	PIK3CB (I221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733881	NM_006219.3(PIK3CB):c.622-10C>T	PIK3CB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2394550	NM_006219.3(PIK3CB):c.595G>A (p.Val199Ile)	PIK3CB (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748822	NM_006219.3(PIK3CB):c.594C>T (p.Ile198=)	PIK3CB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2458931	NM_006219.3(PIK3CB):c.469G>A (p.Glu157Lys)	PIK3CB (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599215	NM_006219.3(PIK3CB):c.458G>T (p.Arg153Leu)	PIK3CB (R153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349868	NM_006219.3(PIK3CB):c.457C>T (p.Arg153Cys)	PIK3CB (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337562	NM_006219.3(PIK3CB):c.412G>C (p.Asp138His)	PIK3CB (D138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306612	NM_006219.3(PIK3CB):c.233A>G (p.Tyr78Cys)	PIK3CB (Y78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306609	NM_006219.3(PIK3CB):c.217A>G (p.Met73Val)	PIK3CB (M73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377763	NM_006219.3(PIK3CB):c.77C>A (p.Ser26Tyr)	PIK3CB (S26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321852	NM_006219.3(PIK3CB):c.38A>G (p.Asp13Gly)	PIK3CB (D13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814482	GRCh37/hg19 3q22.3(chr3:138203261-138669628)x3	FOXL2, CEP70 +3 more	Copy number gain	not provided	GLikely benign
Select item 687625	GRCh37/hg19 3q22.3-23(chr3:138220588-138777135)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 686965	GRCh37/hg19 3q22.3(chr3:138439305-138660471)x3	PIK3CB	Copy number gain	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 685423	GRCh37/hg19 3q22.3-23(chr3:138253995-138769278)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442405	GRCh37/hg19 3q22.3-23(chr3:138413416-139096053)x3	COPB2, FOXL2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 98