23523[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 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 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 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 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 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 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 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 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 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 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 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	LOC130067094, LOC130067095 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 148096	GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3	ADORA2A, ADORA2A-AS1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3136218	NM_012295.4(CABIN1):c.8G>A (p.Arg3Gln)	CABIN1 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684766	NM_012295.4(CABIN1):c.45T>G (p.Asp15Glu)	CABIN1 (D15E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3262626	NM_012295.4(CABIN1):c.107C>T (p.Ala36Val)	CABIN1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357952	NM_012295.4(CABIN1):c.151C>T (p.Arg51Trp)	CABIN1 (R51W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3262627	NM_012295.4(CABIN1):c.171A>C (p.Lys57Asn)	CABIN1 (K57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737409	NM_012295.4(CABIN1):c.222C>T (p.Ser74=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136190	NM_012295.4(CABIN1):c.328A>G (p.Met110Val)	CABIN1 (M110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238381	NM_012295.4(CABIN1):c.345+326=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042399	NM_012295.4(CABIN1):c.346-8G>A	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related disorder	GLikely benign
Select item 2551973	NM_012295.4(CABIN1):c.430C>T (p.Arg144Cys)	CABIN1 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299732	NM_012295.4(CABIN1):c.431G>A (p.Arg144His)	CABIN1 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136199	NM_012295.4(CABIN1):c.455G>A (p.Arg152Gln)	CABIN1 (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345245	NM_012295.4(CABIN1):c.464C>A (p.Pro155His)	CABIN1 (P155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262618	NM_012295.4(CABIN1):c.484G>A (p.Asp162Asn)	CABIN1 (D162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262632	NM_012295.4(CABIN1):c.593A>G (p.Lys198Arg)	CABIN1 (K198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136211	NM_012295.4(CABIN1):c.622C>T (p.Leu208Phe)	CABIN1 (L208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529335	NM_012295.4(CABIN1):c.635C>T (p.Ser212Phe)	CABIN1 (S212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459037	NM_012295.4(CABIN1):c.665C>T (p.Ser222Leu)	CABIN1 (S222L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1250878	NM_012295.4(CABIN1):c.673G>A (p.Asp225Asn)	CABIN1 (D225N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2522245	NM_012295.4(CABIN1):c.740G>A (p.Arg247Lys)	CABIN1 (R247K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533197	NM_012295.4(CABIN1):c.749T>C (p.Leu250Pro)	CABIN1 (L250P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136215	NM_012295.4(CABIN1):c.766G>A (p.Glu256Lys)	CABIN1 (E256K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3049066	NM_012295.4(CABIN1):c.771G>A (p.Pro257=)	CABIN1	Single nucleotide variant (synonymous variant +1 more)	CABIN1-related disorder	GLikely benign
Select item 1251288	NM_012295.4(CABIN1):c.807-301=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2509990	NM_012295.4(CABIN1):c.839T>C (p.Met280Thr)	CABIN1 (M280T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025144	NM_012295.4(CABIN1):c.852C>T (p.Leu284=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136216	NM_012295.4(CABIN1):c.869C>G (p.Pro290Arg)	CABIN1 (P240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136217	NM_012295.4(CABIN1):c.872G>A (p.Arg291His)	CABIN1 (R241H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264212	NM_012295.4(CABIN1):c.886A>G (p.Lys296Glu)	CABIN1 (K296E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331201	NM_012295.4(CABIN1):c.895G>A (p.Asp299Asn)	CABIN1 (D249N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613140	NM_012295.4(CABIN1):c.925C>A (p.Pro309Thr)	CABIN1 (P259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547921	NM_012295.4(CABIN1):c.929T>C (p.Leu310Pro)	CABIN1 (L260P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207661	NM_012295.4(CABIN1):c.940A>G (p.Met314Val)	CABIN1 (M314V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 728695	NM_012295.4(CABIN1):c.975C>A (p.Ser325Arg)	CABIN1 (S275R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2399646	NM_012295.4(CABIN1):c.1000G>T (p.Ala334Ser)	CABIN1 (A284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606511	NM_012295.4(CABIN1):c.1051C>G (p.Pro351Ala)	CABIN1 (P301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408841	NM_012295.4(CABIN1):c.1062T>A (p.Ser354Arg)	CABIN1 (S304R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727055	NM_012295.4(CABIN1):c.1083C>T (p.Gly361=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2396587	NM_012295.4(CABIN1):c.1129G>T (p.Val377Leu)	CABIN1 (V377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735391	NM_012295.4(CABIN1):c.1182T>G (p.Ser394=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262624	NM_012295.4(CABIN1):c.1232A>G (p.Gln411Arg)	CABIN1 (Q361R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372860	NM_012295.4(CABIN1):c.1243A>G (p.Met415Val)	CABIN1 (M365V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3051043	NM_012295.4(CABIN1):c.1262+10A>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related disorder	GLikely benign
Select item 773096	NM_012295.4(CABIN1):c.1262+10A>G	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236549	NM_012295.4(CABIN1):c.1262+62=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265851	NM_012295.4(CABIN1):c.1399+79G>C	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3262635	NM_012295.4(CABIN1):c.1418A>G (p.Glu473Gly)	CABIN1 (E423G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035232	NM_012295.4(CABIN1):c.1443C>T (p.Asn481=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related disorder	GLikely benign
Select item 1684770	NM_012295.4(CABIN1):c.1468C>T (p.Arg490Cys)	CABIN1 (R440C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 722445	NM_012295.4(CABIN1):c.1486G>A (p.Gly496Ser)	CABIN1 (G446S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2292699	NM_012295.4(CABIN1):c.1510C>T (p.Pro504Ser)	CABIN1 (P504S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348829	NM_012295.4(CABIN1):c.1540G>A (p.Val514Ile)	CABIN1 (V464I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1267949	NM_012295.4(CABIN1):c.1617+104T>C	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2265906	NM_012295.4(CABIN1):c.1681G>A (p.Gly561Ser)	CABIN1 (G561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278820	NM_012295.4(CABIN1):c.1697-21C>T	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2323914	NM_012295.4(CABIN1):c.1703C>G (p.Pro568Arg)	CABIN1 (P568R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770012	NM_012295.4(CABIN1):c.1713C>T (p.Cys571=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2522864	NM_012295.4(CABIN1):c.1729A>G (p.Asn577Asp)	CABIN1 (N577D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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