"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CPLX1"[ - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1961631	NM_006651.4(CPLX1):c.405G>A (p.Ter135=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1938806	NM_006651.4(CPLX1):c.399G>C (p.Lys133Asn)	CPLX1 (K133N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743585	NM_006651.4(CPLX1):c.396C>G (p.Leu132=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523650	NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	CPLX1 (L128M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 63 +1 more	GConflicting classifications of pathogenicity
Select item 2069940	NM_006651.4(CPLX1):c.380C>A (p.Pro127Gln)	CPLX1 (P127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172736	NM_006651.4(CPLX1):c.375C>T (p.Pro125=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416656	NM_006651.4(CPLX1):c.353A>G (p.Asp118Gly)	CPLX1 (D118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790827	NM_006651.4(CPLX1):c.349C>T (p.Leu117=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908164	NM_006651.4(CPLX1):c.339_341dup (p.Asp113_Glu114insAsp)	CPLX1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2058566	NM_006651.4(CPLX1):c.339C>G (p.Asp113Glu)	CPLX1 (D113E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 739058	NM_006651.4(CPLX1):c.333G>A (p.Glu111=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084875	NM_006651.4(CPLX1):c.326T>C (p.Val109Ala)	CPLX1 (V109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411489	NM_006651.4(CPLX1):c.311G>A (p.Gly104Asp)	CPLX1 (G104D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 736367	NM_006651.4(CPLX1):c.308C>T (p.Pro103Leu)	CPLX1 (P103L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2194462	NM_006651.4(CPLX1):c.264C>A (p.Ala88=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926950	NM_006651.4(CPLX1):c.251C>T (p.Ala84Val)	CPLX1 (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906296	NM_006651.4(CPLX1):c.219G>A (p.Lys73=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502160	NM_006651.4(CPLX1):c.218A>C (p.Lys73Thr)	CPLX1 (K73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047405	NM_006651.4(CPLX1):c.210C>G (p.Tyr70Ter)	CPLX1 (Y70*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63 +1 more	GUncertain significance
Select item 2202060	NM_006651.4(CPLX1):c.208-3C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1417975	NM_006651.4(CPLX1):c.208-5C>A	CPLX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2174483	NM_006651.4(CPLX1):c.208-8C>A	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919626	NM_006651.4(CPLX1):c.208-22_208-11dup	CPLX1	Duplication (intron variant)	not provided	GLikely benign
Select item 1673621	NM_006651.4(CPLX1):c.207+18C>G	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533773	NM_006651.4(CPLX1):c.207+17C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012379	NM_006651.4(CPLX1):c.207+16G>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959581	NM_006651.4(CPLX1):c.207+12G>A	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182025	NM_006651.4(CPLX1):c.207+10G>A	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746313	NM_006651.4(CPLX1):c.207+9C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588653	NM_006651.4(CPLX1):c.195C>A (p.Gly65=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058567	NM_006651.4(CPLX1):c.184G>A (p.Val62Met)	CPLX1 (V62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587654	NM_006651.4(CPLX1):c.183C>T (p.Ala61=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076054	NM_006651.4(CPLX1):c.177C>T (p.Arg59=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1960003	NM_006651.4(CPLX1):c.170C>T (p.Ala57Val)	CPLX1 (A57V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906589	NM_006651.4(CPLX1):c.132G>A (p.Ala44=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152203	NM_006651.4(CPLX1):c.97A>G (p.Lys33Glu)	CPLX1 (K33E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176565	NM_006651.4(CPLX1):c.86A>C (p.Asp29Ala)	CPLX1 (D29A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956607	NM_006651.4(CPLX1):c.79G>A (p.Asp27Asn)	CPLX1 (D27N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841172	NM_006651.4(CPLX1):c.75G>A (p.Glu25=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947376	NM_006651.4(CPLX1):c.72G>A (p.Glu24=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002270	NM_006651.4(CPLX1):c.64G>T (p.Gly22Cys)	CPLX1 (G22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788136	NM_006651.4(CPLX1):c.51G>A (p.Gly17=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176794	NM_006651.4(CPLX1):c.45C>T (p.Asp15=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961807	NM_006651.4(CPLX1):c.39C>A (p.Thr13=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166785	NM_006651.4(CPLX1):c.32-5A>G	CPLX1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 63 +1 more	GBenign
Select item 2016992	NM_006651.4(CPLX1):c.32-9C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710424	NM_006651.4(CPLX1):c.31+9C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3246746	NC_000004.11:g.(?_818260)_(1020391_?)del	GAK, IDUA +5 more	Deletion	not provided	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2423740	NC_000004.11:g.(?_520808)_(1020391_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1429723	NC_000004.11:g.(?_780289)_(780506_?)dup	CPLX1	Duplication	not provided	GUncertain significance
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	DOK7, FAM193A +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1070482	NC_000004.11:g.(?_493125)_(998181_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55