5594[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	LOC130066994, LOC130066995 +287 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145536	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57261	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 154610	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	CCDC116, FAM230B +94 more	Copy number gain	See cases	GUncertain significance
Select item 148420	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1	CCDC116, FAM230B +102 more	Copy number loss	See cases	GPathogenic
Select item 148419	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3	CCDC116, FAM230B +102 more	Copy number gain	See cases	GUncertain significance
Select item 57332	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 150486	GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 59253	GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	BCR, CCDC116 +180 more	Copy number loss	See cases	GPathogenic
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 147610	GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1	CCDC116, HIC2 +90 more	Copy number loss	See cases	GPathogenic
Select item 153062	GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	CCDC116, GGTLC2 +94 more	Copy number loss	See cases	GPathogenic
Select item 146777	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic
Select item 146776	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3	CCDC116, IGL +89 more	Copy number gain	See cases	GPathogenic
Select item 155200	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	CCDC116, IGL +92 more	Copy number loss	See cases	GPathogenic
Select item 148699	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	LOC129929044, LOC129929045 +176 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 146442	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	BCR, CCDC116 +179 more	Copy number loss	See cases	GPathogenic
Select item 59327	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	BCR, CCDC116 +179 more	Copy number gain	See cases	GPathogenic
Select item 32689	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 151375	GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3	CCDC116, GGTLC2 +86 more	Copy number gain	See cases	GPathogenic
Select item 145114	GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3	CCDC116, LOC110121474 +29 more	Copy number gain	See cases	GUncertain significance
Select item 57444	GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1	CCDC116, IGL +80 more	Copy number loss	See cases	GPathogenic
Select item 59328	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3	CCDC116, GGTLC2 +84 more	Copy number gain	See cases	GPathogenic
Select item 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 59282	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1	CCDC116, IGL +83 more	Copy number loss	See cases	GPathogenic
Select item 59038	GRCh38/hg38 22q11.22(chr22:21728091-21762392)x3	LOC132090639, MAPK1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1708868	NM_002745.5(MAPK1):c.1071A>G (p.Gly357=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1804343	NM_002745.5(MAPK1):c.1054G>T (p.Ala352Ser)	MAPK1 (A352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663656	NM_002745.5(MAPK1):c.987C>G (p.Phe329Leu)	MAPK1 (F329L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253018	NM_002745.5(MAPK1):c.968C>A (p.Pro323His)	MAPK1 (P323H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 917749	NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg)	MAPK1 (P323R)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	Abnormal facial shape +6 more	GPathogenic
Select item 376450	NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys)	MAPK1 (E322K)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +3 more	GLikely pathogenic OLikely oncogenic
Select item 733407	NM_002745.5(MAPK1):c.963C>T (p.Asp321=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1695839	NM_002745.5(MAPK1):c.959G>T (p.Ser320Ile)	MAPK1 (S320I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029212	NM_002745.5(MAPK1):c.957G>A (p.Pro319=)	MAPK1	Single nucleotide variant (synonymous variant)	MAPK1-related disorder	GLikely benign
Select item 1704734	NM_002745.5(MAPK1):c.956C>T (p.Pro319Leu)	MAPK1 (P319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 3029555	NM_002745.5(MAPK1):c.951C>T (p.Tyr317=)	MAPK1	Single nucleotide variant (synonymous variant)	MAPK1-related disorder	GLikely benign
Select item 1804005	NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)	MAPK1 (Y316H)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 1307140	NM_002745.5(MAPK1):c.914A>G (p.Glu305Gly)	MAPK1 (E305G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571153	NM_002745.5(MAPK1):c.888C>T (p.Phe296=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652948	NM_002745.5(MAPK1):c.868T>C (p.Leu290=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672898	NM_002745.5(MAPK1):c.790T>C (p.Leu264=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299571	NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)	MAPK1 (I255V)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 2636465	NM_002745.5(MAPK1):c.725-4A>G	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GUncertain significance
Select item 2627243	NM_002745.5(MAPK1):c.679A>G (p.Ile227Val)	MAPK1 (I227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048373	NM_002745.5(MAPK1):c.610-9C>T	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GLikely benign
Select item 2577796	NM_002745.5(MAPK1):c.525T>A (p.Asp175Glu)	MAPK1 (D175E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 3351320	NM_002745.5(MAPK1):c.492+10G>A	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GLikely benign
Select item 2545949	NM_002745.5(MAPK1):c.490A>C (p.Lys164Gln)	MAPK1 (K164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652949	NM_002745.5(MAPK1):c.480C>T (p.Thr160=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208698	NM_002745.5(MAPK1):c.404G>C (p.Arg135Thr)	MAPK1 (R135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1710541	NM_002745.5(MAPK1):c.358C>A (p.His120Asn)	MAPK1 (H120N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652950	NM_002745.5(MAPK1):c.330A>G (p.Thr110=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2582179	NM_002745.5(MAPK1):c.307A>G (p.Ile103Val)	MAPK1 (I103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057799	NM_002745.5(MAPK1):c.280A>G (p.Thr94Ala)	MAPK1 (T94A)	Single nucleotide variant (missense variant)	MAPK1-related disorder	GLikely benign
Select item 3029021	NM_002745.5(MAPK1):c.241G>A (p.Glu81Lys)	MAPK1 (E81K)	Single nucleotide variant (missense variant)	MAPK1-related disorder	GLikely pathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 1699351	NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp)	MAPK1 (A52D)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GUncertain significance
Select item 3038296	NM_002745.5(MAPK1):c.120-20CT[5]	MAPK1	Microsatellite (intron variant)	MAPK1-related disorder	GLikely benign
Select item 2663452	NM_002745.5(MAPK1):c.103G>A (p.Ala35Thr)	MAPK1 (A35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723682	NM_002745.5(MAPK1):c.79A>G (p.Asn27Asp)	MAPK1 (N27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025167	NM_002745.5(MAPK1):c.63G>A (p.Val21=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809653	NM_002745.5(MAPK1):c.5CGG[8] (p.Ala7_Gly8insAlaAla)	MAPK1	Microsatellite (inframe_indel +2 more)	MAPK1-related disorder +1 more	GUncertain significance
Select item 1174634	NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup)	MAPK1	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 3056129	NM_002745.5(MAPK1):c.5CGG[5] (p.Ala7del)	MAPK1 (A7del)	Microsatellite (inframe_indel +2 more)	MAPK1-related disorder	GBenign
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
Select item 2685673	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	CCDC116, GGT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2684932	GRCh37/hg19 22q11.21-11.22(chr22:22043937-22728895)x3	MAPK1, PPIL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1808649	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GPathogenic
Select item 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 1807776	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 1706504	GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1340186	GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3	CCDC116, MAPK1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1330164	GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3	MIR130B, CCDC116 +15 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980810	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic

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