"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PLXNA3" - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777847	NM_017514.5(PLXNA3):c.12C>G (p.Val4=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720976	NM_017514.5(PLXNA3):c.71G>A (p.Arg24His)	PLXNA3 (R24H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749131	NM_017514.5(PLXNA3):c.138C>T (p.Phe46=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773622	NM_017514.5(PLXNA3):c.172C>T (p.Pro58Ser)	PLXNA3 (P58S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727527	NM_017514.5(PLXNA3):c.266G>A (p.Arg89His)	PLXNA3 (R89H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727176	NM_017514.5(PLXNA3):c.320G>A (p.Arg107His)	PLXNA3 (R107H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741242	NM_017514.5(PLXNA3):c.402G>A (p.Pro134=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789685	NM_017514.5(PLXNA3):c.744G>A (p.Thr248=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791145	NM_017514.5(PLXNA3):c.786C>T (p.Ile262=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752400	NM_017514.5(PLXNA3):c.825C>T (p.Tyr275=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788633	NM_017514.5(PLXNA3):c.882C>T (p.Ser294=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714122	NM_017514.5(PLXNA3):c.933G>A (p.Pro311=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741535	NM_017514.5(PLXNA3):c.1150G>A (p.Gly384Ser)	PLXNA3 (G384S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724571	NM_017514.5(PLXNA3):c.1237G>A (p.Gly413Ser)	PLXNA3 (G413S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728839	NM_017514.5(PLXNA3):c.1255G>A (p.Ala419Thr)	PLXNA3 (A419T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717565	NM_017514.5(PLXNA3):c.1296G>A (p.Thr432=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782075	NM_017514.5(PLXNA3):c.1298G>A (p.Arg433His)	PLXNA3 (R433H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724410	NM_017514.5(PLXNA3):c.1510G>A (p.Gly504Arg)	PLXNA3 (G504R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2050006	NM_017514.5(PLXNA3):c.1585C>G (p.Pro529Ala)	PLXNA3 (P529A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730504	NM_017514.5(PLXNA3):c.1628G>A (p.Arg543Gln)	PLXNA3 (R543Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727528	NM_017514.5(PLXNA3):c.1639A>G (p.Asn547Asp)	PLXNA3 (N547D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 732729	NM_017514.5(PLXNA3):c.1737G>A (p.Ala579=)	PLXNA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 762542	NM_017514.5(PLXNA3):c.1740G>A (p.Ala580=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740729	NM_017514.5(PLXNA3):c.1878G>A (p.Val626=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734975	NM_017514.5(PLXNA3):c.1896C>T (p.Asp632=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790296	NM_017514.5(PLXNA3):c.1958C>T (p.Pro653Leu)	PLXNA3 (P653L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723875	NM_017514.5(PLXNA3):c.2044-4G>A	PLXNA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748529	NM_017514.5(PLXNA3):c.2202C>T (p.Ala734=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729594	NM_017514.5(PLXNA3):c.2245-7C>T	PLXNA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769189	NM_017514.5(PLXNA3):c.2289T>C (p.Phe763=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712883	NM_017514.5(PLXNA3):c.2342-8G>A	PLXNA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733390	NM_017514.5(PLXNA3):c.2469G>A (p.Pro823=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769190	NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp)	PLXNA3 (E863D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 726401	NM_017514.5(PLXNA3):c.2721G>C (p.Pro907=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791105	NM_017514.5(PLXNA3):c.3219C>T (p.Asn1073=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738144	NM_017514.5(PLXNA3):c.3405G>A (p.Val1135=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750459	NM_017514.5(PLXNA3):c.3441+5G>A	PLXNA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769206	NM_017514.5(PLXNA3):c.3462T>G (p.Ala1154=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719163	NM_017514.5(PLXNA3):c.3513G>A (p.Pro1171=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769207	NM_017514.5(PLXNA3):c.3723C>G (p.Ala1241=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769191	NM_017514.5(PLXNA3):c.4001G>A (p.Gly1334Glu)	PLXNA3 (G1334E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790297	NM_017514.5(PLXNA3):c.4077C>T (p.Arg1359=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760230	NM_017514.5(PLXNA3):c.5301G>A (p.Gly1767=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723018	NM_017514.5(PLXNA3):c.5478G>A (p.Ala1826=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752968	NM_017514.5(PLXNA3):c.5598C>T (p.Leu1866=)	PLXNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244008	NC_000023.10:g.(?_153592370)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Creatine transporter deficiency +6 more	GPathogenic
Select item 2424174	NC_000023.10:g.(?_153585782)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422368	NC_000023.10:g.(?_153640181)_(153775961_?)dup	ATP6AP1, DNASE1L1 +10 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	SLC10A3, TKTL1 +73 more	Deletion	Spastic paraplegia +8 more	GPathogenic
Select item 658992	NC_000023.10:g.(?_152954020)_(154096327_?)del	ATP6AP1, AVPR2 +43 more	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 536592	NC_000023.10:g.(?_153295726)_(153786885_?)dup	ATP6AP1, DNASE1L1 +19 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic

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Items: 54