"GeneDx"[submitter] AND "CYLD"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 1225104	NC_000016.10:g.50741910G>T	CYLD, CYLD-AS1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1244068	NC_000016.10:g.50741954G>C	CYLD, CYLD-AS1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1274753	NM_001378743.1(CYLD):c.-204+132C>T	CYLD, CYLD-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280234	NM_001378743.1(CYLD):c.-123-59A>G	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 319497	NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)	CYLD (I20S)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 695378	NM_001378743.1(CYLD):c.87C>T (p.Ser29=)	CYLD	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2413090	NM_001378743.1(CYLD):c.176G>A (p.Arg59Lys)	CYLD (R59K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1220437	NM_001378743.1(CYLD):c.505-159A>G	CYLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428841	NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser)	CYLD (L212S)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +1 more	GUncertain significance
Select item 1292658	NM_001378743.1(CYLD):c.807+98_807+111del	CYLD	Microsatellite (intron variant)	not provided	GBenign
Select item 1207317	NM_001378743.1(CYLD):c.807+169C>G	CYLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511543	NM_001378743.1(CYLD):c.808-8A>G	CYLD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1217453	NM_001378743.1(CYLD):c.913+31G>A	CYLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177919	NM_001378743.1(CYLD):c.914-161A>G	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243847	NM_001378743.1(CYLD):c.923-188C>G	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2413065	NM_001378743.1(CYLD):c.932C>T (p.Thr311Met)	CYLD (T308M +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +2 more	GUncertain significance
Select item 1236003	NM_001378743.1(CYLD):c.1022-264T>A	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226336	NM_001378743.1(CYLD):c.1022-229G>A	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 267232	NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	CYLD (S371* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 1238755	NM_001378743.1(CYLD):c.1138+112G>A	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278450	NM_001378743.1(CYLD):c.1139-424T>C	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177883	NM_001378743.1(CYLD):c.1139-365G>A	CYLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329672	NM_001378743.1(CYLD):c.1356A>G (p.Ala452=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 319503	NM_001378743.1(CYLD):c.1473C>T (p.Ile491=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1274375	NM_001378743.1(CYLD):c.1518+42G>A	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199593	NM_001378743.1(CYLD):c.1518+74C>G	CYLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228963	NM_001378743.1(CYLD):c.1519-286A>T	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817054	NM_001378743.1(CYLD):c.1681_1682del (p.Leu561fs)	CYLD (L558fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1267104	NM_001378743.1(CYLD):c.1684+110C>T	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230226	NM_001378743.1(CYLD):c.1685-115A>C	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290309	NM_001378743.1(CYLD):c.1685-86A>G	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242064	NM_001378743.1(CYLD):c.1826+60GT[9]	CYLD	Microsatellite (intron variant)	not provided	GBenign
Select item 1281839	NM_001378743.1(CYLD):c.1826+283C>T	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260855	NM_001378743.1(CYLD):c.1827-308A>G	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315913	NM_001378743.1(CYLD):c.1853A>T (p.Asp618Val)	CYLD, CYLD-AS2 (D393V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370156	NM_001378743.1(CYLD):c.1949+5G>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1225930	NM_001378743.1(CYLD):c.1950-82dup	CYLD, CYLD-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1275227	NM_001378743.1(CYLD):c.2041+110G>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189168	NM_001378743.1(CYLD):c.2042-50G>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1800470	NM_001378743.1(CYLD):c.2108+51T>C	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 319505	NM_001378743.1(CYLD):c.2109-10G>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1244859	NM_001378743.1(CYLD):c.2241+41T>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292836	NM_001378743.1(CYLD):c.2242-46G>T	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5253	NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)	CYLD-AS2, CYLD (R758* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3364289	NM_001378743.1(CYLD):c.2273G>A (p.Arg758Gln)	CYLD, CYLD-AS2 (R533Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1236313	NM_001378743.1(CYLD):c.2350+326G>A	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242060	NM_001378743.1(CYLD):c.2351-240A>G	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572901	NM_001378743.1(CYLD):c.2402A>T (p.Glu801Val)	CYLD, CYLD-AS2 (E576V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319508	NM_001378743.1(CYLD):c.2412C>T (p.Asp804=)	CYLD, CYLD-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 1244811	NM_001378743.1(CYLD):c.2469+26A>G	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	Trichoepithelioma, multiple familial, 1 +3 more	GBenign
Select item 1200735	NM_001378743.1(CYLD):c.2469+234T>C	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220761	NM_001378743.1(CYLD):c.2470-273dup	CYLD, CYLD-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1201946	NM_001378743.1(CYLD):c.2469+274_2470-273dup	CYLD, CYLD-AS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1292829	NM_001378743.1(CYLD):c.2686+201_2686+202dup	CYLD, CYLD-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1180881	NM_001378743.1(CYLD):c.2686+202dup	CYLD, CYLD-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1197099	NM_001378743.1(CYLD):c.2687-225T>C	CYLD, CYLD-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3360386	NM_001378743.1(CYLD):c.254A>T (p.Asp85Val)	CYLD (D85V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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Items: 61