ClinVar for MedGen (Select 860487) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15251441.	NM_133459.4(CCBE1):c.654+5G>C GRCh37: Chr18:57122078 GRCh38: Chr18:59454846	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13835362.	NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) GRCh37: Chr18:57115326 GRCh38: Chr18:59448094	CCBE1	L222F	Hennekam lymphangiectasia-lymphedema syndrome 1, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11926523.	NM_133459.4(CCBE1):c.266-63G>T GRCh37: Chr18:57136902 GRCh38: Chr18:59469670	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11926244.	NM_133459.4(CCBE1):c.775+82A>G GRCh37: Chr18:57115133 GRCh38: Chr18:59447901	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11926235.	NM_133459.4(CCBE1):c.776-164G>A GRCh37: Chr18:57107212 GRCh38: Chr18:59439980	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10311186.	NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp) GRCh37: Chr18:57106923 GRCh38: Chr18:59439691	CCBE1	R301W	Inborn genetic diseases, not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10311177.	NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln) GRCh37: Chr18:57106979 GRCh38: Chr18:59439747	CCBE1	R282Q	Hennekam lymphangiectasia-lymphedema syndrome 1, not provided	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10311168.	NM_133459.4(CCBE1):c.274G>A (p.Val92Ile) GRCh37: Chr18:57136831 GRCh38: Chr18:59469599	CCBE1	V92I	Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8921009.	NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp) GRCh37: Chr18:57136732 GRCh38: Chr18:59469500	CCBE1	R125W	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89209910.	NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln) GRCh37: Chr18:57136725 GRCh38: Chr18:59469493	CCBE1	R127Q	not provided, Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89209811.	NM_133459.4(CCBE1):c.460T>G (p.Leu154Val) GRCh37: Chr18:57134064 GRCh38: Chr18:59466832	CCBE1	L154V	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89209712.	NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile) GRCh37: Chr18:57133979 GRCh38: Chr18:59466747	CCBE1	N182I	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89206313.	NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln) GRCh37: Chr18:57103282 GRCh38: Chr18:59436050	CCBE1	R360Q	not provided, not specified, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 89206214.	NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro) GRCh37: Chr18:57103213 GRCh38: Chr18:59435981	CCBE1	L383P	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89206115.	NM_133459.4(CCBE1):c.*20G>A GRCh37: Chr18:57103120 GRCh38: Chr18:59435888	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89206016.	NM_133459.4(CCBE1):c.*126G>A GRCh37: Chr18:57103014 GRCh38: Chr18:59435782	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89201717.	NM_133459.4(CCBE1):c.*1257T>C GRCh37: Chr18:57101883 GRCh38: Chr18:59434651	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89201618.	NM_133459.4(CCBE1):c.*1401G>C GRCh37: Chr18:57101739 GRCh38: Chr18:59434507	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89201519.	NM_133459.4(CCBE1):c.*1489G>T GRCh37: Chr18:57101651 GRCh38: Chr18:59434419	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89197320.	NM_133459.4(CCBE1):c.*2340T>C GRCh37: Chr18:57100800 GRCh38: Chr18:59433568	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89192921.	NM_133459.4(CCBE1):c.*3182T>G GRCh37: Chr18:57099958 GRCh38: Chr18:59432726	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89192822.	NM_133459.4(CCBE1):c.*3231G>A GRCh37: Chr18:57099909 GRCh38: Chr18:59432677	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89192723.	NM_133459.4(CCBE1):c.*3239G>C GRCh37: Chr18:57099901 GRCh38: Chr18:59432669	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89192624.	NM_133459.4(CCBE1):c.*3430T>C GRCh37: Chr18:57099710 GRCh38: Chr18:59432478	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Feb 16, 2018)	criteria provided, single submitter
Select item 89187125.	NM_133459.4(CCBE1):c.*4525T>C GRCh37: Chr18:57098615 GRCh38: Chr18:59431383	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89187026.	NM_133459.4(CCBE1):c.*4710G>A GRCh37: Chr18:57098430 GRCh38: Chr18:59431198	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89186927.	NM_133459.4(CCBE1):c.*4738G>A GRCh37: Chr18:57098402 GRCh38: Chr18:59431170	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89160328.	NM_133459.4(CCBE1):c.*4755A>C GRCh37: Chr18:57098385 GRCh38: Chr18:59431153	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89086629.	NM_133459.4(CCBE1):c.552T>C (p.Thr184=) GRCh37: Chr18:57133972 GRCh38: Chr18:59466740	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89086530.	NM_133459.4(CCBE1):c.557A>G (p.His186Arg) GRCh37: Chr18:57122180 GRCh38: Chr18:59454948	CCBE1	H186R	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89086431.	NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser) GRCh37: Chr18:57115319 GRCh38: Chr18:59448087	CCBE1	N224S	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89086332.	NM_133459.4(CCBE1):c.733C>G (p.Leu245Val) GRCh37: Chr18:57115257 GRCh38: Chr18:59448025	CCBE1	L245V	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89082533.	NM_133459.4(CCBE1):c.*182C>A GRCh37: Chr18:57102958 GRCh38: Chr18:59435726	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89082434.	NM_133459.4(CCBE1):c.*203A>G GRCh37: Chr18:57102937 GRCh38: Chr18:59435705	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89082335.	NM_133459.4(CCBE1):c.*504T>C GRCh37: Chr18:57102636 GRCh38: Chr18:59435404	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89077736.	NM_133459.4(CCBE1):c.*1724C>T GRCh37: Chr18:57101416 GRCh38: Chr18:59434184	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89077637.	NM_133459.4(CCBE1):c.*1861C>T GRCh37: Chr18:57101279 GRCh38: Chr18:59434047	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89073438.	NM_133459.4(CCBE1):c.*2389C>G GRCh37: Chr18:57100751 GRCh38: Chr18:59433519	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89073339.	NM_133459.4(CCBE1):c.*2411C>T GRCh37: Chr18:57100729 GRCh38: Chr18:59433497	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89073240.	NM_133459.4(CCBE1):c.*2635A>G GRCh37: Chr18:57100505 GRCh38: Chr18:59433273	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89073141.	NM_133459.4(CCBE1):c.*2728A>G GRCh37: Chr18:57100412 GRCh38: Chr18:59433180	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89067942.	NM_133459.4(CCBE1):c.*3704C>A GRCh37: Chr18:57099436 GRCh38: Chr18:59432204	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89067843.	NM_133459.4(CCBE1):c.*3777A>T GRCh37: Chr18:57099363 GRCh38: Chr18:59432131	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89067744.	NM_133459.4(CCBE1):c.*3800G>A GRCh37: Chr18:57099340 GRCh38: Chr18:59432108	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89067645.	NM_133459.4(CCBE1):c.*3801G>A GRCh37: Chr18:57099339 GRCh38: Chr18:59432107	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89036046.	NM_133459.4(CCBE1):c.-27G>T GRCh37: Chr18:57364601 GRCh38: Chr18:59697369	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89035947.	NM_133459.4(CCBE1):c.60G>C (p.Leu20=) GRCh37: Chr18:57364515 GRCh38: Chr18:59697283	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89035848.	NM_133459.4(CCBE1):c.83C>T (p.Ala28Val) GRCh37: Chr18:57364492 GRCh38: Chr18:59697260	CCBE1	A28V	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89035749.	NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) GRCh37: Chr18:57364474 GRCh38: Chr18:59697242	CCBE1	T34N	not provided, Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89030250.	NM_133459.4(CCBE1):c.810C>T (p.Pro270=) GRCh37: Chr18:57107014 GRCh38: Chr18:59439782	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 89030151.	NM_133459.4(CCBE1):c.853A>G (p.Met285Val) GRCh37: Chr18:57106971 GRCh38: Chr18:59439739	CCBE1	M285V	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89030052.	NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu) GRCh37: Chr18:57106955 GRCh38: Chr18:59439723	CCBE1	P290L	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89029953.	NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln) GRCh37: Chr18:57106922 GRCh38: Chr18:59439690	CCBE1	R301Q	not provided, Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89025554.	NM_133459.4(CCBE1):c.*781A>T GRCh37: Chr18:57102359 GRCh38: Chr18:59435127	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89020355.	NM_133459.4(CCBE1):c.*1969A>G GRCh37: Chr18:57101171 GRCh38: Chr18:59433939	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89010056.	NM_133459.4(CCBE1):c.*3809C>T GRCh37: Chr18:57099331 GRCh38: Chr18:59432099	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89009957.	NM_133459.4(CCBE1):c.*3853C>T GRCh37: Chr18:57099287 GRCh38: Chr18:59432055	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89009858.	NM_133459.4(CCBE1):c.*3862G>A GRCh37: Chr18:57099278 GRCh38: Chr18:59432046	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89009759.	NM_133459.4(CCBE1):c.*3922T>A GRCh37: Chr18:57099218 GRCh38: Chr18:59431986	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89005660.	NM_133459.4(CCBE1):c.*4818G>A GRCh37: Chr18:57098322 GRCh38: Chr18:59431090	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89005561.	NM_133459.4(CCBE1):c.*4877C>G GRCh37: Chr18:57098263 GRCh38: Chr18:59431031	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89005462.	NM_133459.4(CCBE1):c.*4934G>T GRCh37: Chr18:57098206 GRCh38: Chr18:59430974	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88961063.	NM_133459.4(CCBE1):c.*938G>T GRCh37: Chr18:57102202 GRCh38: Chr18:59434970	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88960964.	NM_133459.4(CCBE1):c.*1021T>A GRCh37: Chr18:57102119 GRCh38: Chr18:59434887	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88960865.	NM_133459.4(CCBE1):c.*1190C>T GRCh37: Chr18:57101950 GRCh38: Chr18:59434718	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88954466.	NM_133459.4(CCBE1):c.*2121C>T GRCh37: Chr18:57101019 GRCh38: Chr18:59433787	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88948367.	NM_133459.4(CCBE1):c.*2953C>A GRCh37: Chr18:57100187 GRCh38: Chr18:59432955	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88948268.	NM_133459.4(CCBE1):c.*3147T>C GRCh37: Chr18:57099993 GRCh38: Chr18:59432761	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88942369.	NM_133459.4(CCBE1):c.*3931G>A GRCh37: Chr18:57099209 GRCh38: Chr18:59431977	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88942270.	NM_133459.4(CCBE1):c.*4173A>G GRCh37: Chr18:57098967 GRCh38: Chr18:59431735	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88942171.	NM_133459.4(CCBE1):c.*4215A>T GRCh37: Chr18:57098925 GRCh38: Chr18:59431693	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88942072.	NM_133459.4(CCBE1):c.*4282G>A GRCh37: Chr18:57098858 GRCh38: Chr18:59431626	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88865673.	NM_133459.4(CCBE1):c.131+10G>A GRCh37: Chr18:57364434 GRCh38: Chr18:59697202	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 88865574.	NM_133459.4(CCBE1):c.171C>T (p.Tyr57=) GRCh37: Chr18:57363902 GRCh38: Chr18:59696670	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Mar 7, 2022)	criteria provided, conflicting interpretations
Select item 88865475.	NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser) GRCh37: Chr18:57147424 GRCh38: Chr18:59480192	CCBE1	P87S	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88865376.	NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly) GRCh37: Chr18:57136818 GRCh38: Chr18:59469586	CCBE1	A96G	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88865277.	NM_133459.4(CCBE1):c.342T>C (p.Tyr114=) GRCh37: Chr18:57136763 GRCh38: Chr18:59469531	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Jun 10, 2022)	criteria provided, conflicting interpretations
Select item 88860178.	NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala) GRCh37: Chr18:57103361 GRCh38: Chr18:59436129	CCBE1	S334A	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88860079.	NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu) GRCh37: Chr18:57103358 GRCh38: Chr18:59436126	CCBE1	F335L	Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88859980.	NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys) GRCh37: Chr18:57103325 GRCh38: Chr18:59436093	CCBE1	R346C	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88859881.	NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly) GRCh37: Chr18:57103309 GRCh38: Chr18:59436077	CCBE1	E351G	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88859782.	NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr) GRCh37: Chr18:57103297 GRCh38: Chr18:59436065	CCBE1	K355T	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 81136083.	NM_133459.4(CCBE1):c.966G>A (p.Ala322=) GRCh37: Chr18:57105364 GRCh38: Chr18:59438132	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1, not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 80350584.	NM_133459.4(CCBE1):c.266-104C>T GRCh37: Chr18:57136943 GRCh38: Chr18:59469711	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 77493585.	NM_133459.4(CCBE1):c.195G>A (p.Glu65=) GRCh37: Chr18:57363878 GRCh38: Chr18:59696646	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76224786.	NM_133459.4(CCBE1):c.519A>G (p.Thr173=) GRCh37: Chr18:57134005 GRCh38: Chr18:59466773	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 75811587.	NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly) GRCh37: Chr18:57103198 GRCh38: Chr18:59435966	CCBE1	D388G	Hennekam lymphangiectasia-lymphedema syndrome 1, not provided	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 73557188.	NM_133459.4(CCBE1):c.843A>T (p.Pro281=) GRCh37: Chr18:57106981 GRCh38: Chr18:59439749	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 72041189.	NM_133459.4(CCBE1):c.1017A>G (p.Leu339=) GRCh37: Chr18:57103344 GRCh38: Chr18:59436112	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 63180790.	NM_133459.4(CCBE1):c.916-2A>G GRCh37: Chr18:57106812 GRCh38: Chr18:59439580	CCBE1		Inborn genetic diseases, not specified, Hennekam lymphangiectasia-lymphedema syndrome 1, not provided	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 62590591.	NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) GRCh37: Chr18:57147423 GRCh38: Chr18:59480191	CCBE1	P87Q	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59854092.	NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val) GRCh37: Chr4:126371400 GRCh38: Chr4:125450245	FAT4	I3079V, I3077V	not provided	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58759193.	NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met) GRCh37: Chr4:126411370 GRCh38: Chr4:125490215	FAT4	V4465M, V4467M, V4466M	Hennekam lymphangiectasia-lymphedema syndrome 1, Van Maldergem syndrome 2	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 52301294.	NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe) GRCh37: Chr4:126238479 GRCh38: Chr4:125317324	FAT4	I305F	Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Dec 18, 2017)	criteria provided, single submitter
Select item 51535895.	NM_133459.4(CCBE1):c.654+5G>A GRCh37: Chr18:57122078 GRCh38: Chr18:59454846	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 32771196.	NM_133459.4(CCBE1):c.-30G>C GRCh37: Chr18:57364604 GRCh38: Chr18:59697372	CCBE1		Hennekam lymphangiectasia-lymphedema syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32771097.	NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) GRCh37: Chr18:57364452 GRCh38: Chr18:59697220	CCBE1	D41E	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32770998.	NM_133459.4(CCBE1):c.156C>T (p.Ile52=) GRCh37: Chr18:57363917 GRCh38: Chr18:59696685	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32770899.	NM_133459.4(CCBE1):c.265+8A>C GRCh37: Chr18:57147410 GRCh38: Chr18:59480178	CCBE1		not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 327707100.	NM_133459.4(CCBE1):c.431C>T (p.Thr144Met) GRCh37: Chr18:57134093 GRCh38: Chr18:59466861	CCBE1	T144M	not provided, Hennekam lymphangiectasia-lymphedema syndrome 1	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations

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