2781[Gene ID] - 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 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 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 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 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 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 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545273	NC_000022.11:g.(?_22638171)_(23320336_?)del	IGLL5, IGLV2-11 +85 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 59284	GRCh38/hg38 22q11.22-11.23(chr22:22651209-23299955)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GPathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 155394	GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154210	GRCh38/hg38 22q11.22-11.23(chr22:22655458-23308687)x1	LOC129929045, LOC130067057 +81 more	Copy number loss	See cases	GUncertain significance
Select item 59285	GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GPathogenic
Select item 155280	GRCh38/hg38 22q11.22-11.23(chr22:22660239-23312035)x3	BCR, GNAZ +82 more	Copy number gain	See cases	GUncertain significance
Select item 154918	GRCh38/hg38 22q11.22-11.23(chr22:22660239-23306603)x1	BCR, GNAZ +81 more	Copy number loss	See cases	GLikely benign
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 154587	GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x1	BCR, GNAZ +80 more	Copy number loss	See cases	GUncertain significance
Select item 147327	GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x3	BCR, GNAZ +80 more	Copy number gain	See cases	GUncertain significance
Select item 146012	GRCh38/hg38 22q11.22-11.23(chr22:22669543-23300977)x3	BCR, GNAZ +80 more	Copy number gain	See cases	GPathogenic
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 150643	GRCh38/hg38 22q11.22-11.23(chr22:22669599-23312050)x1	LOC130067089, LOC130067090 +81 more	Copy number loss	See cases	GPathogenic
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	DRICH1, FAM230I +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	IGLV3-22, IGLV3-25 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59286	GRCh38/hg38 22q11.22-11.23(chr22:22686122-23315617)x1	BCR, GNAZ +82 more	Copy number loss	See cases	GPathogenic
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 59287	GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1	BCR, GNAZ +73 more	Copy number loss	See cases	GPathogenic
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	GUncertain significance
Select item 2323924	NM_002073.4(GNAZ):c.32A>C (p.Glu11Ala)	GNAZ, RSPH14 (E11A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410877	NM_002073.4(GNAZ):c.62G>A (p.Arg21His)	GNAZ, RSPH14 (R21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100583	NM_002073.4(GNAZ):c.428G>A (p.Arg143His)	GNAZ, RSPH14 (R143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100584	NM_002073.4(GNAZ):c.493G>A (p.Ala165Thr)	GNAZ, RSPH14 (A165T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720633	NM_002073.4(GNAZ):c.654C>T (p.Gly218=)	GNAZ, RSPH14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2454715	NM_002073.4(GNAZ):c.901G>A (p.Ala301Thr)	GNAZ, RSPH14 (A301T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100585	NM_002073.4(GNAZ):c.904G>A (p.Val302Ile)	RSPH14, GNAZ (V302I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100586	NM_002073.4(GNAZ):c.921G>C (p.Gln307His)	GNAZ, RSPH14 (Q307H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3062454	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	not specified	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 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2578929	GRCh37/hg19 22q11.22-11.23(chr22:22989224-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2506549	GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)	BCR, C22orf15 +16 more	Copy number loss	Schwannomatosis 1	GPathogenic
Select item 1879569	GRCh37/hg19 22q11.22-11.23(chr22:22988816-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807704	GRCh37/hg19 22q11.22-11.23(chr22:22997929-23650871)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GLikely pathogenic
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 1341126	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
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 1340419	GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3	GGTLC2, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 1330169	GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3	BCR, C22orf15 +16 more	Copy number gain	Generalized-onset seizure +1 more	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
Select item 979599	GRCh37/hg19 22q11.22-11.23(chr22:22898364-23653963)x3	IGLC1, BCR +6 more	Copy number gain	not provided	GUncertain significance
Select item 979598	GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3	DDTL, GUCD1 +29 more	Copy number gain	not provided	GPathogenic
Select item 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 more	Copy number gain	not provided	GPathogenic
Select item 816209	GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3	GSTT1, CHCHD10 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 688599	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 688301	GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1	BCR, CCDC116 +20 more	Copy number loss	not provided	GPathogenic
Select item 688150	GRCh37/hg19 22q11.22-11.23(chr22:23004886-23757078)x3	BCR, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 687963	GRCh37/hg19 22q11.22-11.23(chr22:22997928-23652512)x3	BCR, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 687759	GRCh37/hg19 22q11.22-11.23(chr22:22997928-23649052)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GPathogenic
Select item 687642	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GPathogenic
Select item 687375	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 687352	GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652512)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687011	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 686993	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 686931	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3	SMARCB1, SNRPD3 +32 more	Copy number gain	not provided	GPathogenic
Select item 686676	GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652562)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686625	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GPathogenic
Select item 686226	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649907)x3	BCR, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 686040	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 685920	GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685586	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 684901	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3	GUCD1, IGLC1 +33 more	Copy number gain	not provided	GPathogenic
Select item 638672	GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)	IGLC1, IGLL5 +5 more	Copy number loss	Ventricular septal defect +2 more	GPathogenic
Select item 636296	GRCh37/hg19 22q11.22-11.23(chr22:22997928-23654007)x3	BCR, GNAZ +4 more	Copy number gain	22q11.2 distal duplication syndrome	GUncertain significance

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