3543[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 337

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067011, LOC130067012 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +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	LOC130067137, LOC130067138 +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	IGLV4-3, LINC01659 +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	ADORA2A, ADORA2A-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	LOC130067089, LOC130067090 +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	LOC130067070, LOC130067071 +124 more	Copy number gain	See cases	GUncertain significance
Select item 59039	GRCh38/hg38 22q11.23(chr22:23247480-23670363)x3	BCR, DRICH1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +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	ADORA2A, ADORA2A-AS1 +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	LOC130067107, LOC130067108 +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	ADORA2A, ADORA2A-AS1 +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 1279530	NC_000022.11:g.23573056C>T	IGLL1	Single nucleotide variant	not provided	GBenign
Select item 1246977	NC_000022.11:g.23573072del	IGLL1	Deletion	not provided	GBenign
Select item 1262879	NM_020070.4(IGLL1):c.*113A>C	IGLL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1273962	NM_020070.4(IGLL1):c.*83C>T	IGLL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 661192	NC_000022.10:g.(?_23915433)_(23922397_?)dup	IGLL1	Duplication	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2979429	NM_020070.4(IGLL1):c.633A>G (p.Glu211=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2739482	NM_020070.4(IGLL1):c.624C>T (p.Ala208=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 947731	NM_020070.4(IGLL1):c.619G>A (p.Val207Met)	IGLL1 (V207M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 538832	NM_020070.4(IGLL1):c.618G>A (p.Thr206=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1057687	NM_020070.4(IGLL1):c.617C>T (p.Thr206Met)	IGLL1 (T206M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 439824	NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)	IGLL1 (T206S +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GConflicting classifications of pathogenicity
Select item 2231360	NM_020070.4(IGLL1):c.614A>T (p.Lys205Met)	IGLL1 (K206M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1103950	NM_020070.4(IGLL1):c.609G>A (p.Val203=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 575852	NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala)	IGLL1 (V203A +1 more)	Indel (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1393015	NM_020070.4(IGLL1):c.608T>C (p.Val203Ala)	IGLL1 (V204A +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1044631	NM_020070.4(IGLL1):c.606_607del (p.Val203fs)	IGLL1 (V204fs +1 more)	Deletion (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 538827	NM_020070.4(IGLL1):c.607G>A (p.Val203Met)	IGLL1 (V203M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1960388	NM_020070.4(IGLL1):c.606C>G (p.Thr202=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1121010	NM_020070.4(IGLL1):c.606C>T (p.Thr202=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1497677	NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser)	IGLL1 (T203S +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 2913061	NM_020070.4(IGLL1):c.595G>A (p.Glu199Lys)	IGLL1 (E200K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1021143	NM_020070.4(IGLL1):c.594C>A (p.His198Gln)	IGLL1 (H198Q +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 712794	NM_020070.4(IGLL1):c.594C>T (p.His198=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GLikely benign
Select item 1363505	NM_020070.4(IGLL1):c.590T>G (p.Met197Arg)	IGLL1 (M197R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 861363	NM_020070.4(IGLL1):c.590T>C (p.Met197Thr)	IGLL1 (M197T +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1146425	NM_020070.4(IGLL1):c.588C>T (p.Val196=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1504082	NM_020070.4(IGLL1):c.585G>T (p.Gln195His)	IGLL1 (Q195H +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2132714	NM_020070.4(IGLL1):c.584A>G (p.Gln195Arg)	IGLL1 (Q195R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 487215	NM_020070.4(IGLL1):c.566G>A (p.Arg189His)	IGLL1 (R189H +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 2192035	NM_020070.4(IGLL1):c.560G>A (p.Arg187Lys)	IGLL1 (R188K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2885815	NM_020070.4(IGLL1):c.559A>C (p.Arg187=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 580757	NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter)	IGLL1 (Q185* +1 more)	Single nucleotide variant (nonsense +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2031043	NM_020070.4(IGLL1):c.551dup (p.Gln185fs)	IGLL1 (Q186fs +1 more)	Duplication (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1054982	NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys)	IGLL1 (E184K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 478775	NM_020070.4(IGLL1):c.549C>T (p.Pro183=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GBenign
Select item 1149720	NM_020070.4(IGLL1):c.546G>C (p.Thr182=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1134563	NM_020070.4(IGLL1):c.546G>A (p.Thr182=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1376930	NM_020070.4(IGLL1):c.545C>T (p.Thr182Met)	IGLL1 (T183M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2739744	NM_020070.4(IGLL1):c.542T>C (p.Leu181Pro)	IGLL1 (L182P +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2739614	NM_020070.4(IGLL1):c.536T>G (p.Leu179Arg)	IGLL1 (L179R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 664919	NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)	IGLL1 (S176N +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1149042	NM_020070.4(IGLL1):c.525C>T (p.Ala175=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 742186	NM_020070.4(IGLL1):c.522G>A (p.Ala174=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2501751	NM_020070.4(IGLL1):c.521delinsAT (p.Ala174fs)	IGLL1 (A174fs +1 more)	Indel (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 580208	NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)	IGLL1 (A174V +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 538826	NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)	IGLL1 (A175M +1 more)	Indel (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign/Likely benign
Select item 1345788	NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser)	IGLL1 (A175S +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 773791	NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr)	IGLL1 (A175T +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 2989147	NM_020070.4(IGLL1):c.519C>T (p.Tyr173=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GLikely benign
Select item 2920457	NM_020070.4(IGLL1):c.507CAA[2] (p.Asn171del)	IGLL1 (N171del +1 more)	Microsatellite (inframe_deletion +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2112409	NM_020070.4(IGLL1):c.515A>G (p.Lys172Arg)	IGLL1 (K172R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2713681	NM_020070.4(IGLL1):c.513C>G (p.Asn171Lys)	IGLL1 (N172K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 439822	NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser)	IGLL1 (N171S +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 471478	NM_020070.4(IGLL1):c.507C>T (p.Ser169=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2053155	NM_020070.4(IGLL1):c.497C>G (p.Ser166Cys)	IGLL1 (S167C +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1614589	NM_020070.4(IGLL1):c.495C>T (p.Pro165=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 743661	NM_020070.4(IGLL1):c.492G>A (p.Thr164=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 2156375	NM_020070.4(IGLL1):c.491C>T (p.Thr164Met)	IGLL1 (T165M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance

<< First< Prev

Page of 4