ClinVar for MedGen (Select 346703) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803149	NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)	CYLD, CYLD-AS2 (C684fs +3 more)	Duplication (frameshift variant +1 more)	Brooke-Spiegler syndrome	GLikely pathogenic
Select item 1801315	NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)	CYLD, CYLD-AS2	Deletion (frameshift variant +2 more)	Brooke-Spiegler syndrome	GLikely pathogenic
Select item 1327096	NM_001378743.1(CYLD):c.170A>G (p.His57Arg)	CYLD (H57R)	Single nucleotide variant (missense variant +2 more)	Brooke-Spiegler syndrome	GUncertain significance
Select item 1244811	NM_001378743.1(CYLD):c.2469+26A>G	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	Familial cylindromatosis +3 more	GBenign
Select item 888241	NM_001378743.1(CYLD):c.*3851T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 888054	NM_001378743.1(CYLD):c.*2147T>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 888053	NM_001378743.1(CYLD):c.*2113A>G	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 887868	NM_001378743.1(CYLD):c.*29T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 887795	NM_001378743.1(CYLD):c.1271C>A (p.Thr424Asn)	CYLD (T421N +3 more)	Single nucleotide variant (missense variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 887102	NM_001378743.1(CYLD):c.*5327C>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 887035	NM_001378743.1(CYLD):c.*4530G>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 886903	NM_001378743.1(CYLD):c.*3151T>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 886839	NM_001378743.1(CYLD):c.*2521G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 886776	NM_001378743.1(CYLD):c.*2026G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 886616	NM_001378743.1(CYLD):c.2589T>C (p.Ala863=)	CYLD, CYLD-AS2	Single nucleotide variant (synonymous variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 886479	NM_001378743.1(CYLD):c.-215C>G	CYLD, CYLD-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 886478	NM_015247.2(CYLD):c.-414T>C	CYLD, CYLD-AS1 +1 more	Single nucleotide variant	Familial cylindromatosis +2 more	GUncertain significance
Select item 886098	NM_001378743.1(CYLD):c.*5060G>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 886040	NM_001378743.1(CYLD):c.*4514C>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 885845	NM_001378743.1(CYLD):c.*2424C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 885715	NM_001378743.1(CYLD):c.*1191C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 885714	NM_001378743.1(CYLD):c.*1191C>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 885654	NM_001378743.1(CYLD):c.*280A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 885521	NM_001378743.1(CYLD):c.913+5G>T	CYLD	Single nucleotide variant (intron variant)	Familial cylindromatosis +2 more	GBenign
Select item 885133	NM_001378743.1(CYLD):c.*3865C>T	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 885051	NM_001378743.1(CYLD):c.*3589C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 885050	NM_001378743.1(CYLD):c.*3462A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 884989	NM_001378743.1(CYLD):c.*2848A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 884839	NM_001378743.1(CYLD):c.*1651G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 884774	NM_001378743.1(CYLD):c.*1034C>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 884773	NM_001378743.1(CYLD):c.*1033T>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 884717	NM_001378743.1(CYLD):c.*206A>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 884716	NM_001378743.1(CYLD):c.*139G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GBenign
Select item 884715	NM_001378743.1(CYLD):c.*59T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 884650	NM_001378743.1(CYLD):c.1294A>C (p.Ser432Arg)	CYLD (S432R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 731466	NM_001378743.1(CYLD):c.2469+10C>T	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 319574	NM_001378743.1(CYLD):c.*5384A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319573	NM_001378743.1(CYLD):c.*5272C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319572	NM_001378743.1(CYLD):c.*5086A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319571	NM_001378743.1(CYLD):c.*4947G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319570	NM_001378743.1(CYLD):c.4888_4889del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	Trichoepithelioma, multiple familial, 2 +2 more	GBenign
Select item 319569	NM_001378743.1(CYLD):c.*4885A>T	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319568	NM_001378743.1(CYLD):c.*4841G>A	CYLD, CYLD-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319567	NM_001378743.1(CYLD):c.*4702C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319566	NM_001378743.1(CYLD):c.*4691A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319565	NM_001378743.1(CYLD):c.*4567C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319564	NM_001378743.1(CYLD):c.*4561G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319563	NM_001378743.1(CYLD):c.*4494G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319562	NM_001378743.1(CYLD):c.*4485G>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319561	NM_001378743.1(CYLD):c.*4470C>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319560	NM_001378743.1(CYLD):c.*4388C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319559	NM_001378743.1(CYLD):c.*3739C>G	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319558	NM_001378743.1(CYLD):c.*3736G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 319557	NM_001378743.1(CYLD):c.*3731C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319556	NM_001378743.1(CYLD):c.*3722T>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319555	NM_001378743.1(CYLD):c.*3679T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319554	NM_001378743.1(CYLD):c.*3614C>A	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319553	NM_001378743.1(CYLD):c.*3469T>C	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 319552	NM_001378743.1(CYLD):c.*3384G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319551	NM_001378743.1(CYLD):c.*3305A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319550	NM_001378743.1(CYLD):c.*3229C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319549	NM_001378743.1(CYLD):c.*3148T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +3 more	GConflicting classifications of pathogenicity
Select item 319548	NM_001378743.1(CYLD):c.*3119del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 319547	NM_001378743.1(CYLD):c.*3070A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319546	NM_001378743.1(CYLD):c.*3000C>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319545	NM_001378743.1(CYLD):c.*2975C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319544	NM_001378743.1(CYLD):c.*2856T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319543	NM_001378743.1(CYLD):c.*2710C>T	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319542	NM_001378743.1(CYLD):c.*2646G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319541	NM_001378743.1(CYLD):c.*2615A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319540	NM_001378743.1(CYLD):c.*2556A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319539	NM_001378743.1(CYLD):c.*2438G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319538	NM_001378743.1(CYLD):c.*2369G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319537	NM_001378743.1(CYLD):c.*2335T>C	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319536	NM_001378743.1(CYLD):c.*2305A>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319535	NM_001378743.1(CYLD):c.*2236C>T	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GBenign
Select item 319534	NM_001378743.1(CYLD):c.*2150A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GBenign
Select item 319533	NM_001378743.1(CYLD):c.2121_2122del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319532	NM_001378743.1(CYLD):c.*2122del	CYLD, CYLD-AS2	Deletion (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319531	NM_001378743.1(CYLD):c.*1983T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319530	NM_001378743.1(CYLD):c.*1831G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319529	NM_001378743.1(CYLD):c.*1810A>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319528	NM_001378743.1(CYLD):c.*1746C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319527	NM_001378743.1(CYLD):c.*1727T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319526	NM_001378743.1(CYLD):c.*1667G>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319525	NM_001378743.1(CYLD):c.*1590T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 319524	NM_001378743.1(CYLD):c.*1587dup	CYLD, CYLD-AS2	Duplication (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319523	NM_001378743.1(CYLD):c.*1575G>A	CYLD-AS2, CYLD	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +3 more	GBenign/Likely benign
Select item 319522	NM_001378743.1(CYLD):c.*1341T>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319521	NM_001378743.1(CYLD):c.*1308A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319520	NM_001378743.1(CYLD):c.*1245T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 319519	NM_001378743.1(CYLD):c.*1102G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319518	NM_001378743.1(CYLD):c.*841G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GBenign
Select item 319517	NM_001378743.1(CYLD):c.*837A>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 319516	NM_001378743.1(CYLD):c.*831C>T	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GBenign
Select item 319515	NM_001378743.1(CYLD):c.*779G>A	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 319514	NM_001378743.1(CYLD):c.*698T>G	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GBenign
Select item 319513	NM_001378743.1(CYLD):c.*468A>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 319512	NM_001378743.1(CYLD):c.*403T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 319511	NM_001378743.1(CYLD):c.*382T>C	CYLD, CYLD-AS2	Single nucleotide variant (3 prime UTR variant +1 more)	Brooke-Spiegler syndrome +2 more	GBenign

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