ClinVar for Gene (Select 3537) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285596	NM_001178126.2(IGLL5):c.440C>A (p.Thr147Lys)	IGL, IGLC1 +1 more (T147K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3108766	NM_001178126.2(IGLL5):c.637T>C (p.Cys213Arg)	IGL, IGLC1 +1 more (C213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108764	NM_001178126.2(IGLL5):c.587A>G (p.Gln196Arg)	IGL, IGLC1 +1 more (Q121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108763	NM_001178126.2(IGLL5):c.469G>A (p.Val157Ile)	IGL, IGLC1 +1 more (V157I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108762	NM_001178126.2(IGLL5):c.427C>T (p.Pro143Ser)	IGL, IGLC1 +1 more (P68S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108761	NM_001178126.2(IGLL5):c.344C>T (p.Pro115Leu)	IGL, IGLC1 +1 more (P40L +1 more)	Single nucleotide variant (missense variant)	not specified	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 2532594	NM_001178126.2(IGLL5):c.610G>A (p.Val204Met)	IGL, IGLC1 +1 more (V129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519453	NM_001178126.2(IGLL5):c.445G>A (p.Ala149Thr)	IGL, IGLC1 +1 more (A149T +1 more)	Single nucleotide variant (missense variant)	not specified	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 2412076	NM_001178126.2(IGLL5):c.548C>T (p.Thr183Met)	IGL, IGLC1 +1 more (T183M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331353	NM_001178126.2(IGLL5):c.524C>T (p.Ala175Val)	IGL, IGLC1 +1 more (A100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295918	NM_001178126.2(IGLL5):c.508A>C (p.Ser170Arg)	IGL, IGLC1 +1 more (S95R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258788	NM_001178126.2(IGLL5):c.494A>C (p.Lys165Thr)	IGL, IGLC1 +1 more (K165T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1340227	GRCh37/hg19 22q11.22(chr22:22953515-23410918)x3	GGTLC2, IGLC1 +2 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 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, BCR +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
Select item 635766	GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3	CHCHD10, CABIN1 +33 more	Copy number gain	Global developmental delay	GLikely pathogenic
Select item 625626	GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)	BCR, CCDC116 +23 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 625624	GRCh37/hg19 22q11.22(chr22:22255329-23321856)	GGTLC2, IGLC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625623	GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)	CCDC116, GGTLC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565040	GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	AIFM3, BCR +39 more	Copy number loss	not provided	GPathogenic
Select item 565032	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 565031	GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3	DDT, ZNF70 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 565029	GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3	GSTT2B, GNAZ +32 more	Copy number gain	not provided	GPathogenic
Select item 565007	GRCh37/hg19 22q11.22-11.23(chr22:22953514-23654007)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 565006	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1	IGLL5, GNAZ +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 545273	NC_000022.11:g.(?_22638171)_(23320336_?)del	IGLL5, IGLV2-11 +85 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443421	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	See cases	GPathogenic
Select item 443325	GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3	BCR, CCDC116 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442926	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1	BCR, GNAZ +4 more	Copy number loss	See cases	GUncertain significance
Select item 442419	GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3	ADORA2A, BCR +31 more	Copy number gain	See cases	GUncertain significance
Select item 442158	GRCh37/hg19 22q11.22-11.23(chr22:22997803-23654064)x3	BCR, GNAZ +4 more	Copy number gain	See cases	GLikely benign
Select item 442064	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649562)x1	BCR, GNAZ +4 more	Copy number loss	See cases	GLikely benign
Select item 441811	GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3	CCDC116, ADORA2A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 402121	GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1	GGTLC2, GNAZ +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253528	GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	AIFM3, BCR +40 more	Copy number loss	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253499	GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3	CHCHD10, RAB36 +17 more	Copy number gain	See cases	GPathogenic
Select item 253485	GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3	GSTT2B, VPREB3 +32 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253433	GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3	BCR, CCDC116 +25 more	Copy number gain	See cases	GPathogenic
Select item 221770	GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1	DGCR6, GSC2 +105 more	Copy number loss	Premature ovarian failure	GBenign
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 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 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

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