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

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1903684	NM_001873.4(CPE):c.43G>A (p.Ala15Thr)	CPE, LOC129993339 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742048	NM_001873.4(CPE):c.207G>A (p.Gln69=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610581	NM_001873.4(CPE):c.215C>T (p.Ala72Val)	CPE (A72V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1626832	NM_001873.4(CPE):c.381G>A (p.Leu127=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487579	NM_001873.4(CPE):c.383C>T (p.Ala128Val)	CPE (A128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645773	NM_001873.4(CPE):c.505-3dup	CPE	Duplication (intron variant)	BDV syndrome +1 more	GBenign/Likely benign
Select item 1533547	NM_001873.4(CPE):c.672+6G>A	CPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2695602	NM_001873.4(CPE):c.696C>A (p.Val232=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1941036	NM_001873.4(CPE):c.719C>G (p.Pro240Arg)	CPE (P240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194543	NM_001873.4(CPE):c.768T>A (p.Tyr256Ter)	CPE (Y256*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2912410	NM_001873.4(CPE):c.771A>G (p.Pro257=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721258	NM_001873.4(CPE):c.783G>A (p.Thr261=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2160231	NM_001873.4(CPE):c.784C>T (p.Arg262Trp)	CPE (R262W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2907074	NM_001873.4(CPE):c.790+10C>A	CPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784680	NM_001873.4(CPE):c.791-4C>G	CPE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599126	NM_001873.4(CPE):c.801C>T (p.His267=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1435885	NM_001873.4(CPE):c.809G>C (p.Ser270Thr)	CPE (S270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044776	NM_001873.4(CPE):c.811T>G (p.Ser271Ala)	CPE (S271A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714897	NM_001873.4(CPE):c.825C>T (p.Asp275=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561096	NM_001873.4(CPE):c.887A>G (p.Asn296Ser)	CPE (N296S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456912	NM_001873.4(CPE):c.889C>T (p.Arg297Trp)	CPE (R297W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2766066	NM_001873.4(CPE):c.945C>T (p.Asn315=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 649127	NM_001873.4(CPE):c.994del (p.Ser333fs)	CPE (S333fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2122689	NM_001873.4(CPE):c.1068C>T (p.Thr356=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609456	NM_001873.4(CPE):c.1138G>A (p.Val380Ile)	CPE (V380I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1607228	NM_001873.4(CPE):c.1177A>G (p.Ile393Val)	CPE (I393V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2804507	NM_001873.4(CPE):c.1263T>G (p.Leu421=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707890	NM_001873.4(CPE):c.1268C>T (p.Ala423Val)	CPE (A423V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1529835	NM_001873.4(CPE):c.1296A>C (p.Thr432=)	CPE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1394547	NM_001873.4(CPE):c.1309G>A (p.Val437Ile)	CPE (V437I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1572366	NM_001873.4(CPE):c.1422A>G (p.Leu474=)	CPE	Single nucleotide variant (synonymous variant)	BDV syndrome +1 more	GBenign/Likely benign

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Items: 31