PLPP3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 149037	GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3	C8A, C8B +16 more	Copy number gain	See cases	GUncertain significance
Select item 2331356	NM_003713.5(PLPP3):c.845C>T (p.Thr282Met)	PLPP3 (T282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279218	NM_003713.5(PLPP3):c.811G>A (p.Val271Ile)	PLPP3 (V271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343581	NM_003713.5(PLPP3):c.671G>A (p.Arg224His)	PLPP3 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205399	NM_003713.5(PLPP3):c.650G>A (p.Arg217His)	PLPP3 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479326	NM_003713.5(PLPP3):c.526A>G (p.Ile176Val)	PLPP3 (I176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215386	NM_003713.5(PLPP3):c.377T>C (p.Leu126Pro)	PLPP3 (L126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215384	NM_003713.5(PLPP3):c.376C>T (p.Leu126Phe)	PLPP3 (L126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316899	NM_003713.5(PLPP3):c.319C>T (p.Arg107Trp)	PLPP3 (R107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485872	NM_003713.5(PLPP3):c.317A>G (p.Tyr106Cys)	PLPP3 (Y106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215383	NM_003713.5(PLPP3):c.305C>T (p.Thr102Met)	PLPP3 (T102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486953	NM_003713.5(PLPP3):c.232A>C (p.Lys78Gln)	PLPP3 (K78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215382	NM_003713.5(PLPP3):c.215G>A (p.Ser72Asn)	PLPP3 (S72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482464	NM_003713.5(PLPP3):c.97C>T (p.Arg33Trp)	PLPP3 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215387	NM_003713.5(PLPP3):c.56G>T (p.Ser19Ile)	PLPP3 (S19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527004	GRCh37/hg19 1p32.2(chr1:56897995-57698341)	C8A, C8B +4 more	Copy number gain	not specified	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 814084	GRCh37/hg19 1p32.2(chr1:56844621-58438748)x1	PLPP3, C8A +4 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 27