PIK3R3[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	PRDX1, TESK2 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2309563	NM_003629.4(PIK3R3):c.1319A>G (p.His440Arg)	P3R3URF-PIK3R3, PIK3R3 (H381R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250510	NM_003629.4(PIK3R3):c.1232G>A (p.Arg411Gln)	P3R3URF-PIK3R3, PIK3R3 (R255Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508350	NM_003629.4(PIK3R3):c.1192G>A (p.Asp398Asn)	P3R3URF-PIK3R3, PIK3R3 (D339N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212990	NM_003629.4(PIK3R3):c.1160A>G (p.Lys387Arg)	P3R3URF-PIK3R3, PIK3R3 (K343R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496044	NM_003629.4(PIK3R3):c.1130A>T (p.Asp377Val)	P3R3URF-PIK3R3, PIK3R3 (D318V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212988	NM_003629.4(PIK3R3):c.1091A>G (p.Asn364Ser)	P3R3URF-PIK3R3, PIK3R3 (N364S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404776	NM_003629.4(PIK3R3):c.832G>C (p.Glu278Gln)	P3R3URF-PIK3R3, PIK3R3 (E234Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 221574	NM_003629.4(PIK3R3):c.797G>A (p.Arg266His)	P3R3URF-PIK3R3, PIK3R3 (R266H +5 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 1299992	NM_003629.4(PIK3R3):c.764+2dup	P3R3URF-PIK3R3, PIK3R3	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2621183	NM_003629.4(PIK3R3):c.548A>G (p.Glu183Gly)	P3R3URF-PIK3R3, PIK3R3 (E139G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292666	NM_003629.4(PIK3R3):c.425A>G (p.His142Arg)	P3R3URF-PIK3R3, PIK3R3 (H142R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295408	NM_003629.4(PIK3R3):c.421C>G (p.His141Asp)	P3R3URF-PIK3R3, PIK3R3 (H141D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212991	NM_003629.4(PIK3R3):c.275C>G (p.Ala92Gly)	P3R3URF-PIK3R3, PIK3R3 (A138G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261274	NM_003629.4(PIK3R3):c.269G>A (p.Arg90Gln)	P3R3URF-PIK3R3, PIK3R3 (R136Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296596	NM_003629.4(PIK3R3):c.250G>A (p.Asp84Asn)	P3R3URF-PIK3R3, PIK3R3 (D40N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1808307	GRCh37/hg19 1p34.1(chr1:46233623-46668497)x3	MAST2, PIK3R3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1526960	GRCh37/hg19 1p34.1(chr1:46083531-46738006)	CCDC17, GPBP1L1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1340080	GRCh37/hg19 1p34.1(chr1:46098762-46668497)x3	PIK3R3, GPBP1L1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980383	GRCh37/hg19 1p34.1(chr1:46195374-46533373)x3	IPP, PIK3R3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814072	GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3	LURAP1, TSPAN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 806422	GRCh37/hg19 1p34.1(chr1:46505812-46598708)x3	PIK3R3	Copy number gain	not provided	GUncertain significance
Select item 689330	GRCh37/hg19 1p34.1(chr1:46057301-46552564)x3	CCDC17, GPBP1L1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688724	GRCh37/hg19 1p34.1(chr1:46541327-46668698)x3	PIK3R3, POMGNT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	RAD54L, TSPAN1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395157	GRCh37/hg19 1p34.1(chr1:46335187-46546272)x3	MAST2, PIK3R3	Copy number gain	See cases	GBenign
Select item 394255	GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3	CCDC17, GPBP1L1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253691	GRCh37/hg19 1p34.1(chr1:46104013-46598046)x3	GPBP1L1, IPP +3 more	Copy number gain	See cases	GUncertain significance

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Items: 38