CCBE1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 147767	GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3	CCBE1, CPLX4 +30 more	Copy number gain	See cases	GUncertain significance
Select item 327582	NM_133459.4(CCBE1):c.*4956A>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327583	NM_133459.4(CCBE1):c.*4945C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327584	NM_133459.4(CCBE1):c.*4940A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890054	NM_133459.4(CCBE1):c.*4934G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 890055	NM_133459.4(CCBE1):c.*4877C>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327585	NM_133459.4(CCBE1):c.*4846G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 890056	NM_133459.4(CCBE1):c.*4818G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327586	NM_133459.4(CCBE1):c.*4799G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327588	NM_133459.4(CCBE1):c.*4796G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327587	NM_133459.4(CCBE1):c.*4796G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327589	NM_133459.4(CCBE1):c.*4788T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 327590	NM_133459.4(CCBE1):c.*4773C>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891603	NM_133459.4(CCBE1):c.*4755A>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327591	NM_133459.4(CCBE1):c.*4749C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 891869	NM_133459.4(CCBE1):c.*4738G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327592	NM_133459.4(CCBE1):c.*4715T>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891870	NM_133459.4(CCBE1):c.*4710G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327593	NM_133459.4(CCBE1):c.*4550AAT[1]	CCBE1	Microsatellite (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 891871	NM_133459.4(CCBE1):c.*4525T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327594	NM_133459.4(CCBE1):c.*4504G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 327595	NM_133459.4(CCBE1):c.*4498T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 327596	NM_133459.4(CCBE1):c.*4426del	CCBE1	Deletion (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 327597	NM_133459.4(CCBE1):c.*4398C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 327598	NM_133459.4(CCBE1):c.*4375T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889420	NM_133459.4(CCBE1):c.*4282G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327599	NM_133459.4(CCBE1):c.*4246C>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 889421	NM_133459.4(CCBE1):c.*4215A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327600	NM_133459.4(CCBE1):c.*4180A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 889422	NM_133459.4(CCBE1):c.*4173A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 889423	NM_133459.4(CCBE1):c.*3931G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 890097	NM_133459.4(CCBE1):c.*3922T>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327601	NM_133459.4(CCBE1):c.*3893C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327602	NM_133459.4(CCBE1):c.*3883G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890098	NM_133459.4(CCBE1):c.*3862G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890099	NM_133459.4(CCBE1):c.*3853C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 890100	NM_133459.4(CCBE1):c.*3809C>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327603	NM_133459.4(CCBE1):c.*3805T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 890676	NM_133459.4(CCBE1):c.*3801G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 890677	NM_133459.4(CCBE1):c.*3800G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327604	NM_133459.4(CCBE1):c.*3788T>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327605	NM_133459.4(CCBE1):c.3784_3787del	CCBE1	Deletion (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327606	NM_133459.4(CCBE1):c.*3780A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 890678	NM_133459.4(CCBE1):c.*3777A>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 327607	NM_133459.4(CCBE1):c.*3710A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 890679	NM_133459.4(CCBE1):c.*3704C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327608	NM_133459.4(CCBE1):c.*3703G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327609	NM_133459.4(CCBE1):c.3668_3676del	CCBE1	Deletion (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327610	NM_133459.4(CCBE1):c.*3623A>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327611	NM_133459.4(CCBE1):c.*3533C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 327612	NM_133459.4(CCBE1):c.*3475G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 891926	NM_133459.4(CCBE1):c.*3430T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327613	NM_133459.4(CCBE1):c.*3257A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891927	NM_133459.4(CCBE1):c.*3239G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891928	NM_133459.4(CCBE1):c.*3231G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 891929	NM_133459.4(CCBE1):c.*3182T>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 327614	NM_133459.4(CCBE1):c.*3162T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 889482	NM_133459.4(CCBE1):c.*3147T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327615	NM_133459.4(CCBE1):c.*3143T>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327616	NM_133459.4(CCBE1):c.*3140G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327617	NM_133459.4(CCBE1):c.*3080A>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 327618	NM_133459.4(CCBE1):c.*3036C>G	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more	GBenign
Select item 327619	NM_133459.4(CCBE1):c.*2978T>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 889483	NM_133459.4(CCBE1):c.*2953C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327621	NM_133459.4(CCBE1):c.2951_2952dup	CCBE1	Duplication (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GLikely benign
Select item 327620	NM_133459.4(CCBE1):c.*2952dup	CCBE1	Duplication (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign
Select item 327622	NM_133459.4(CCBE1):c.2951_2952insC	CCBE1	Insertion (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327623	NM_133459.4(CCBE1):c.*2912G>T	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327624	NM_133459.4(CCBE1):c.*2903G>C	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327625	NM_133459.4(CCBE1):c.*2901T>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327626	NM_133459.4(CCBE1):c.*2891G>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 327627	NM_133459.4(CCBE1):c.*2833C>A	CCBE1	Single nucleotide variant (3 prime UTR variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GBenign

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