P3R3URF-PIK3R3[gene] - ClinVar

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Items: 20

	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	AKR1A1, CCDC163 +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 2638795	NM_001328655.2(P3R3URF):c.60C>T (p.Arg20=)	P3R3URF, P3R3URF-PIK3R3 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 20