PIK3C3[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 155245	GRCh38/hg38 18q12.2-12.3(chr18:36972277-42228852)x3	CELF4, KC6 +31 more	Copy number gain	See cases	GLikely benign
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	LOC126862765, LOC126862766 +596 more	Copy number gain	See cases	GPathogenic
Select item 147341	GRCh38/hg38 18q12.2-12.3(chr18:39215213-41998951)x1	KC6, LINC01477 +12 more	Copy number loss	See cases	GUncertain significance
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 153264	GRCh38/hg38 18q12.3(chr18:41156104-42112882)x3	KC6, LOC130062399 +3 more	Copy number gain	See cases	GUncertain significance
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 2460676	NM_002647.4(PIK3C3):c.53A>G (p.Asn18Ser)	PIK3C3 (N18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325988	NM_002647.4(PIK3C3):c.217C>G (p.Pro73Ala)	PIK3C3 (P73A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279997	NM_002647.4(PIK3C3):c.220G>C (p.Val74Leu)	PIK3C3 (V74L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599545	NM_002647.4(PIK3C3):c.304A>G (p.Arg102Gly)	PIK3C3 (R102G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562386	NM_002647.4(PIK3C3):c.341A>G (p.Tyr114Cys)	PIK3C3 (Y51C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375101	NM_002647.4(PIK3C3):c.409C>T (p.Arg137Cys)	PIK3C3 (R137C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648685	NM_002647.4(PIK3C3):c.410G>A (p.Arg137His)	PIK3C3 (R137H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2206412	NM_002647.4(PIK3C3):c.476C>T (p.Thr159Ile)	PIK3C3 (T159I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367383	NM_002647.4(PIK3C3):c.521G>A (p.Arg174His)	PIK3C3 (R174H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621721	NM_002647.4(PIK3C3):c.977A>C (p.Gln326Pro)	PIK3C3 (Q263P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493273	NM_002647.4(PIK3C3):c.1152G>T (p.Leu384Phe)	PIK3C3 (L321F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783802	NM_002647.4(PIK3C3):c.1152G>A (p.Leu384=)	PIK3C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402020	NM_002647.4(PIK3C3):c.1164T>G (p.Asp388Glu)	PIK3C3 (D388E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689751	NM_002647.4(PIK3C3):c.1170+3G>A	PIK3C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 782554	NM_002647.4(PIK3C3):c.1170+14_1170+17del	PIK3C3	Microsatellite (intron variant)	not provided	GBenign
Select item 2276192	NM_002647.4(PIK3C3):c.1233A>G (p.Ile411Met)	PIK3C3 (I348M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288769	NM_002647.4(PIK3C3):c.1372C>G (p.Pro458Ala)	PIK3C3 (P395A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339276	NM_002647.4(PIK3C3):c.1681C>G (p.Arg561Gly)	PIK3C3 (R498G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544414	NM_002647.4(PIK3C3):c.1741G>A (p.Glu581Lys)	PIK3C3 (E581K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300462	NM_002647.4(PIK3C3):c.1810A>G (p.Ile604Val)	PIK3C3 (I541V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406474	NM_002647.4(PIK3C3):c.1843G>A (p.Ala615Thr)	PIK3C3 (A552T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689752	NM_002647.4(PIK3C3):c.1969-1G>A	PIK3C3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2328580	NM_002647.4(PIK3C3):c.2122G>T (p.Ala708Ser)	PIK3C3 (A708S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747993	NM_002647.4(PIK3C3):c.2176G>A (p.Val726Ile)	PIK3C3 (V663I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2307823	NM_002647.4(PIK3C3):c.2204T>G (p.Ile735Ser)	PIK3C3 (I735S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257217	NM_002647.4(PIK3C3):c.2302C>T (p.Arg768Trp)	PIK3C3 (R768W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596137	NM_002647.4(PIK3C3):c.2396G>C (p.Arg799Pro)	PIK3C3 (R736P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648686	NM_002647.4(PIK3C3):c.2516_2517del (p.Val839fs)	PIK3C3 (V776fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2392888	NM_002647.4(PIK3C3):c.2536T>C (p.Phe846Leu)	PIK3C3 (F783L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722305	NM_002647.4(PIK3C3):c.2586G>A (p.Leu862=)	PIK3C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063562	GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1	ARK2C, ARK2N +11 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340795	GRCh37/hg19 18q12.3(chr18:38661177-41507765)x1	PIK3C3, RIT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340187	GRCh37/hg19 18q12.3(chr18:39565952-42338070)x3	PIK3C3, RIT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 979696	GRCh37/hg19 18q12.3(chr18:39457608-39692846)x3	PIK3C3	Copy number gain	not provided	GLikely benign
Select item 979694	GRCh37/hg19 18q12.3(chr18:39379698-39791501)x3	PIK3C3	Copy number gain	not provided	GLikely benign
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 816008	GRCh37/hg19 18q12.2-12.3(chr18:35075741-42526183)x1	RIT2, SYT4 +3 more	Copy number loss	not provided	GPathogenic
Select item 816006	GRCh37/hg19 18q12.3(chr18:38040162-41956192)x1	RIT2, SYT4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816004	GRCh37/hg19 18q12.2-12.3(chr18:37132106-40414893)x3	PIK3C3, RIT2	Copy number gain	not provided	GUncertain significance
Select item 686295	GRCh37/hg19 18q12.3(chr18:39422882-39566113)x1	PIK3C3	Copy number loss	not provided	GUncertain significance
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 268064	GRCh37/hg19 18q12.3(chr18:38768209-39662517)x3	PIK3C3	Copy number gain	See cases	GUncertain significance
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 79