1540[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	LOC110120583, LOC110120584 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	LOC129390791, LOC129390792 +97 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 886478	NM_015247.2(CYLD):c.-414T>C	CYLD, CYLD-AS1 +1 more	Single nucleotide variant	Familial cylindromatosis +2 more	GUncertain significance
Select item 319494	NM_001378743.1(CYLD):c.-229G>C	CYLD, CYLD-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Brooke-Spiegler syndrome +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 1274753	NM_001378743.1(CYLD):c.-204+132C>T	CYLD, CYLD-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 319495	NM_001378743.1(CYLD):c.-124+1988A>G	CYLD	Single nucleotide variant (5 prime UTR variant +1 more)	Familial multiple trichoepitheliomata +2 more	GUncertain significance
Select item 1280234	NM_001378743.1(CYLD):c.-123-59A>G	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 319496	NM_001378743.1(CYLD):c.-23A>C	CYLD	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 2704441	NM_001378743.1(CYLD):c.24A>C (p.Gln8His)	CYLD (Q8H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681037	NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp)	CYLD (R19W)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
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 747828	NM_001378743.1(CYLD):c.66C>T (p.Tyr22=)	CYLD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2681074	NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe)	CYLD (L24F)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
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 2681043	NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu)	CYLD (P42L)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 319498	NM_001378743.1(CYLD):c.126G>A (p.Pro42=)	CYLD	Single nucleotide variant (synonymous variant +2 more)	Brooke-Spiegler syndrome +2 more	GBenign
Select item 2681042	NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys)	CYLD (R53C)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2885534	NM_001378743.1(CYLD):c.158G>A (p.Arg53His)	CYLD (R53H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 2681069	NM_001378743.1(CYLD):c.208A>G (p.Ile70Val)	CYLD (I70V)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +1 more	GUncertain significance
Select item 2681054	NM_001378743.1(CYLD):c.241G>T (p.Val81Phe)	CYLD (V81F)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681067	NM_001378743.1(CYLD):c.274A>G (p.Ile92Val)	CYLD (I92V)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681062	NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn)	CYLD (K95N)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 133956	NM_001378743.1(CYLD):c.344A>G (p.Asn115Ser)	CYLD (N115S)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 2681068	NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln)	CYLD (K141Q)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681040	NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys)	CYLD (R147C)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 1324200	NM_001378743.1(CYLD):c.454_455del (p.Leu152fs)	CYLD (L152fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2681058	NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys)	CYLD (R156K)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	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 1049555	NM_001378743.1(CYLD):c.505-8A>G	CYLD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1684935	NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys)	CYLD (R172C)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 2646513	NM_001378743.1(CYLD):c.534C>T (p.Asp178=)	CYLD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 319499	NM_001378743.1(CYLD):c.543C>T (p.Tyr181=)	CYLD	Single nucleotide variant (synonymous variant +2 more)	Brooke-Spiegler syndrome +2 more	GUncertain significance
Select item 5260	NM_001378743.1(CYLD):c.561dup (p.Gln188fs)	CYLD (Q188fs)	Duplication (frameshift variant +2 more)	Familial cylindromatosis	GPathogenic
Select item 2317302	NM_001378743.1(CYLD):c.589G>C (p.Val197Leu)	CYLD (V197L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2681050	NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala)	CYLD (E203A)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681072	NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro)	CYLD (L204P)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
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 2681056	NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly)	CYLD (S214G)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681064	NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr)	CYLD (A217T)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 133957	NM_001378743.1(CYLD):c.665C>A (p.Thr222Lys)	CYLD (T222K)	Single nucleotide variant (missense variant +2 more)	Familial cylindromatosis +2 more	GUncertain significance
Select item 2681078	NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro)	CYLD (L227P +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681057	NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser)	CYLD (P229S +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681076	NM_001378743.1(CYLD):c.694A>G (p.Ile232Val)	CYLD (I10V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681045	NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala)	CYLD (T21A +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681071	NM_001378743.1(CYLD):c.761T>G (p.Val254Gly)	CYLD (V254G +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2646514	NM_001378743.1(CYLD):c.777A>G (p.Glu259=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 267228	NM_001378743.1(CYLD):c.831_834del (p.Asp277fs)	CYLD (D277fs +1 more)	Deletion (frameshift variant +1 more)	Familial cylindromatosis	GPathogenic
Select item 2681063	NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn)	CYLD (D281N +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 3038693	NM_001378743.1(CYLD):c.867G>A (p.Ala289=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	CYLD-related condition	GLikely benign
Select item 3067806	NM_001378743.1(CYLD):c.890_892delinsGT (p.Leu297fs)	CYLD (L297fs +1 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 735980	NM_001378743.1(CYLD):c.891G>A (p.Leu297=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637074	NM_001378743.1(CYLD):c.899A>G (p.Asn300Ser)	CYLD (N300S +1 more)	Single nucleotide variant (missense variant +1 more)	CYLD-related condition	GUncertain significance
Select item 267229	NM_001378743.1(CYLD):c.911dup (p.Ala305fs)	CYLD (A305fs +2 more)	Duplication (frameshift variant +1 more)	Familial cylindromatosis	GPathogenic
Select item 885521	NM_001378743.1(CYLD):c.913+5G>T	CYLD	Single nucleotide variant (intron variant)	Familial cylindromatosis +2 more	GBenign
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 319500	NM_001378743.1(CYLD):c.922+9C>A	CYLD	Single nucleotide variant (intron variant)	Familial multiple trichoepitheliomata +2 more	GBenign
Select item 1243847	NM_001378743.1(CYLD):c.923-188C>G	CYLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2720929	NM_001378743.1(CYLD):c.924G>T (p.Glu308Asp)	CYLD (E305D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413065	NM_001378743.1(CYLD):c.932C>T (p.Thr311Met)	CYLD (T308M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2263951	NM_001378743.1(CYLD):c.946C>T (p.Pro316Ser)	CYLD (P316S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2681077	NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg)	CYLD (L316R +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 267230	NM_001378743.1(CYLD):c.968_977del (p.Ser323fs)	CYLD (S323fs +2 more)	Deletion (frameshift variant +1 more)	Brooke-Spiegler syndrome	GPathogenic
Select item 267231	NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs)	CYLD (G330fs +2 more)	Duplication (frameshift variant +1 more)	Familial cylindromatosis	GPathogenic
Select item 133958	NM_001378743.1(CYLD):c.988G>C (p.Gly330Arg)	CYLD (G330R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 2445285	NM_001378743.1(CYLD):c.1004A>G (p.Asn335Ser)	CYLD (N110S +2 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2681075	NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn)	CYLD (K111N +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2681044	NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val)	CYLD (A114V +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	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 746617	NM_001378743.1(CYLD):c.1071C>T (p.Thr357=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2681059	NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg)	CYLD (G135R +2 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2646515	NM_001378743.1(CYLD):c.1110A>G (p.Lys370=)	CYLD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2681079	NM_001378743.1(CYLD):c.1111del (p.Ser371fs)	CYLD (S146fs +2 more)	Deletion (frameshift variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GLikely pathogenic
Select item 267232	NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	CYLD (S371* +2 more)	Single nucleotide variant (nonsense +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +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 3029119	NM_001378743.1(CYLD):c.1139-3dup	CYLD	Duplication (intron variant)	CYLD-related condition	GLikely benign
Select item 2681041	NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser)	CYLD (A156S +2 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 2440669	NM_001378743.1(CYLD):c.1142C>T (p.Ala381Val)	CYLD (A156V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681073	NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu)	CYLD (P159L +2 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	GUncertain significance
Select item 319501	NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg)	CYLD (T389R +2 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 +3 more	GUncertain significance

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