ClinVar for Gene (Select 10815) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269189	NM_006651.4(CPLX1):c.336G>C (p.Glu112Asp)	CPLX1 (E112D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250708	NM_006651.4(CPLX1):c.223A>G (p.Lys75Glu)	CPLX1 (K75E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246746	NC_000004.11:g.(?_818260)_(1020391_?)del	CPLX1, DGKQ +5 more	Deletion	not provided	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 3076717	NM_006651.4(CPLX1):c.247C>G (p.Gln83Glu)	CPLX1 (Q83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3076715	NM_006651.4(CPLX1):c.191A>C (p.Gln64Pro)	CPLX1 (Q64P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
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 3044908	NM_006651.4(CPLX1):c.177C>A (p.Arg59=)	CPLX1	Single nucleotide variant (synonymous variant)	CPLX1-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CTBP1, CYTL1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3012379	NM_006651.4(CPLX1):c.207+16G>T	CPLX1	Single nucleotide variant (intron 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 2841172	NM_006651.4(CPLX1):c.75G>A (p.Glu25=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788136	NM_006651.4(CPLX1):c.51G>A (p.Gly17=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685955	GRCh37/hg19 4p16.3(chr4:607649-929424)x3	ATP5ME, CPLX1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2655235	GRCh37/hg19 4p16.3(chr4:619416-1107252)x3	ATP5ME, CPLX1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	PPP2R2C, PROM1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
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 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +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	FAM53A, MAEA +25 more	Deletion	not provided	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 2373124	NM_006651.4(CPLX1):c.367T>C (p.Tyr123His)	CPLX1 (Y123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2299850	NM_006651.4(CPLX1):c.342G>C (p.Glu114Asp)	CPLX1 (E114D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2202060	NM_006651.4(CPLX1):c.208-3C>T	CPLX1	Single nucleotide variant (intron variant)	not provided	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 2182025	NM_006651.4(CPLX1):c.207+10G>A	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2174483	NM_006651.4(CPLX1):c.208-8C>A	CPLX1	Single nucleotide variant (intron variant)	CPLX1-related disorder +1 more	GLikely benign
Select item 2172736	NM_006651.4(CPLX1):c.375C>T (p.Pro125=)	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 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 2076054	NM_006651.4(CPLX1):c.177C>T (p.Arg59=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2058567	NM_006651.4(CPLX1):c.184G>A (p.Val62Met)	CPLX1 (V62M)	Single nucleotide variant (missense variant)	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 2047405	NM_006651.4(CPLX1):c.210C>G (p.Tyr70Ter)	CPLX1 (Y70*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2016992	NM_006651.4(CPLX1):c.32-9C>T	CPLX1	Single nucleotide variant (intron 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 1961631	NM_006651.4(CPLX1):c.405G>A (p.Ter135=)	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 1959581	NM_006651.4(CPLX1):c.207+12G>A	CPLX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1947376	NM_006651.4(CPLX1):c.72G>A (p.Glu24=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1926950	NM_006651.4(CPLX1):c.251C>T (p.Ala84Val)	CPLX1 (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919626	NM_006651.4(CPLX1):c.208-22_208-11dup	CPLX1	Duplication (intron 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 1906589	NM_006651.4(CPLX1):c.132G>A (p.Ala44=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906296	NM_006651.4(CPLX1):c.219G>A (p.Lys73=)	CPLX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
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 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1703660	GRCh37/hg19 4p16.3(chr4:68345-1512353)	CRIPAK, CTBP1 +23 more	Copy number loss	Global developmental delay	GLikely pathogenic
Select item 1703575	Single allele	FAM53A, PIGG +29 more	Complex	Heart, malformation of	GPathogenic
Select item 1673621	NM_006651.4(CPLX1):c.207+18C>G	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 +1 more	GLikely benign
Select item 1587654	NM_006651.4(CPLX1):c.183C>T (p.Ala61=)	CPLX1	Single nucleotide variant (synonymous 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 1502160	NM_006651.4(CPLX1):c.218A>C (p.Lys73Thr)	CPLX1 (K73T)	Single nucleotide variant (missense variant)	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	TACC3, TMEM129 +46 more	Deletion	Fibrous dysplasia of jaw	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 1411489	NM_006651.4(CPLX1):c.311G>A (p.Gly104Asp)	CPLX1 (G104D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341163	GRCh37/hg19 4p16.3(chr4:68345-1675143)x1	ATP5ME, CPLX1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340570	GRCh37/hg19 4p16.3(chr4:813393-1001282)x3	CPLX1, DGKQ +4 more	Copy number gain	not provided	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 1185526	NM_006651.4(CPLX1):c.*3G>C	CPLX1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1185313	NM_006651.4(CPLX1):c.32-112A>G	CPLX1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 18	GBenign
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1176794	NM_006651.4(CPLX1):c.45C>T (p.Asp15=)	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 1070482	NC_000004.11:g.(?_493125)_(998181_?)del	DGKQ, GAK +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic

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