CPLX1[gene] and "single gene"[properties] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185526	NM_006651.4(CPLX1):c.*3G>C	CPLX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3051056	NM_006651.4(CPLX1):c.*1C>A	CPLX1	Single nucleotide variant (3 prime UTR variant)	CPLX1-related disorder	GLikely benign
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 2373124	NM_006651.4(CPLX1):c.367T>C (p.Tyr123His)	CPLX1 (Y123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	CPLX1-related disorder +1 more	GLikely benign
Select item 2299850	NM_006651.4(CPLX1):c.342G>C (p.Glu114Asp)	CPLX1 (E114D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1908164	NM_006651.4(CPLX1):c.339_341dup (p.Asp113_Glu114insAsp)	CPLX1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2539181	NM_006651.4(CPLX1):c.340G>A (p.Glu114Lys)	CPLX1 (E114K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2058566	NM_006651.4(CPLX1):c.339C>G (p.Asp113Glu)	CPLX1 (D113E)	Single nucleotide variant (missense variant)	not provided	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)	not provided +1 more	GUncertain significance
Select item 871379	NM_006651.4(CPLX1):c.322G>C (p.Glu108Gln)	CPLX1 (E108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402136	NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)	CPLX1 (E108*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63 +1 more	GLikely pathogenic
Select item 523649	NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)	CPLX1 (C105*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63	GPathogenic/Likely pathogenic
Select item 1411489	NM_006651.4(CPLX1):c.311G>A (p.Gly104Asp)	CPLX1 (G104D)	Single nucleotide variant (missense variant)	not provided	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 2277799	NM_006651.4(CPLX1):c.274G>T (p.Gly92Trp)	CPLX1 (G92W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252476	NM_006651.4(CPLX1):c.271G>A (p.Glu91Lys)	CPLX1 (E91K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194462	NM_006651.4(CPLX1):c.264C>A (p.Ala88=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329149	NM_006651.4(CPLX1):c.262G>C (p.Ala88Pro)	CPLX1 (A88P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3076717	NM_006651.4(CPLX1):c.247C>G (p.Gln83Glu)	CPLX1 (Q83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	not provided +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)	CPLX1-related disorder +1 more	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 3076716	NM_006651.4(CPLX1):c.206A>G (p.Lys69Arg)	CPLX1 (K69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335555	NM_006651.4(CPLX1):c.198C>A (p.Ile66=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1588653	NM_006651.4(CPLX1):c.195C>A (p.Gly65=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3076715	NM_006651.4(CPLX1):c.191A>C (p.Gln64Pro)	CPLX1 (Q64P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234946	NM_006651.4(CPLX1):c.188G>A (p.Arg63His)	CPLX1 (R63H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 63	GUncertain significance
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 3044908	NM_006651.4(CPLX1):c.177C>A (p.Arg59=)	CPLX1	Single nucleotide variant (synonymous variant)	CPLX1-related disorder	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 1705441	NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)	CPLX1 (D23fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 63	GLikely pathogenic
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)	not provided +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 1185313	NM_006651.4(CPLX1):c.32-112A>G	CPLX1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 18	GBenign
Select item 710424	NM_006651.4(CPLX1):c.31+9C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1429723	NC_000004.11:g.(?_780289)_(780506_?)dup	CPLX1	Duplication	not provided	GUncertain significance

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Items: 67