ClinVar for Gene (Select 4282) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	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 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 3126460	NM_002415.2(MIF):c.220C>G (p.Arg74Gly)	MIF, MIF-AS1 (R74G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3060033	NM_002415.2(MIF):c.282-6C>G	MIF, MIF-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MIF-related disorder	GBenign
Select item 3049829	NM_002415.2(MIF):c.224C>T (p.Ser75Phe)	MIF, MIF-AS1 (S75F)	Single nucleotide variant (non-coding transcript variant +1 more)	MIF-related disorder	GLikely benign
Select item 3035802	NM_002415.2(MIF):c.204C>A (p.Ile68=)	MIF, MIF-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MIF-related disorder	GLikely benign
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 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 2652976	NM_002415.2(MIF):c.5C>G (p.Pro2Arg)	MIF, MIF-AS1 (P2R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2598734	NM_002415.2(MIF):c.195C>G (p.Ile65Met)	MIF, MIF-AS1 (I65M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2543416	NM_002415.2(MIF):c.221G>T (p.Arg74Leu)	MIF, MIF-AS1 (R74L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537629	NM_002415.2(MIF):c.142A>G (p.Met48Val)	MIF, MIF-AS1 (M48V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2424624	NC_000022.10:g.(?_24130008)_(24237293_?)dup	DERL3, MIF +2 more	Duplication	not provided	GUncertain significance
Select item 2388879	NM_002415.2(MIF):c.100C>A (p.Pro34Thr)	MIF, MIF-AS1 (P34T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207622	NM_002415.2(MIF):c.83C>T (p.Ala28Val)	MIF, MIF-AS1 (A28V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 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 1807958	GRCh37/hg19 22q11.23(chr22:24134808-24271732)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
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 1442392	NC_000022.10:g.(?_23915453)_(24237293_?)del	C22orf15, MIF +10 more	Deletion	Agammaglobulinemia 2, autosomal recessive	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 1340018	GRCh37/hg19 22q11.23(chr22:24134356-24271818)x3	DERL3, MIF +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 1328446	GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3	DDT, ADORA2A +25 more	Copy number gain	not provided	GUncertain significance
Select item 1004379	NC_000022.10:g.(?_23915453)_(24921762_?)dup	ADORA2A, DRICH1 +21 more	Duplication	not provided	GUncertain significance
Select item 997818	Single allele	DERL3, DRICH1 +25 more	Duplication	Epilepsy +1 more	GPathogenic
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 983159	GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3	GGT5, ZNF70 +25 more	Copy number gain	See cases	GUncertain significance
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 979600	GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3	LRRC75B, MIF +26 more	Copy number gain	not provided	GPathogenic
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 830686	NC_000022.10:g.(?_24129357)_(24836024_?)del	DDTL, DERL3 +12 more	Deletion	not provided	GPathogenic
Select item 830423	NC_000022.10:g.(?_24129357)_(24836024_?)dup	ADORA2A, CABIN1 +12 more	Duplication	not provided	GUncertain significance
Select item 816211	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	ADORA2A, DDTL +26 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 781909	NM_002415.2(MIF):c.282-9C>T	MIF, MIF-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 712657	NM_002415.2(MIF):c.282-7C>A	MIF, MIF-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 689054	GRCh37/hg19 22q11.23(chr22:24171304-24258403)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 688980	GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 688543	GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GPathogenic
Select item 688127	GRCh37/hg19 22q11.23(chr22:24134356-24354513)x3	DDT, DDTL +6 more	Copy number gain	not provided	GUncertain significance
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 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 685223	GRCh37/hg19 22q11.23(chr22:24173393-24261143)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 684928	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	GSTT2, IGLL1 +26 more	Copy number gain	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 684543	Single allele	DDTL, DERL3 +4 more	Duplication	not provided	Gnot provided
Select item 636297	GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	22q11.2 distal duplication syndrome	GUncertain significance
Select item 635766	GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3	VPREB3, ZNF70 +33 more	Copy number gain	Global developmental delay	GLikely pathogenic
Select item 625627	GRCh37/hg19 22q11.23(chr22:23653987-25158391)	ADORA2A, BCR +27 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 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 565019	GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3	ADORA2A, UPB1 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 546911	NM_002415.2(MIF):c.172G>A (p.Ala58Thr)	MIF, MIF-AS1 (A58T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523242	GRCh37/hg19 22q11.23(chr22:23720171-25065576)	ADORA2A, C22orf15 +25 more	Copy number gain	Cerebellar ataxia	GUncertain significance
Select item 443888	GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 443476	GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GUncertain significance
Select item 443145	GRCh37/hg19 22q11.23(chr22:24174144-24261143)x3	DERL3, MIF +2 more	Copy number gain	See cases	GUncertain significance
Select item 443019	GRCh37/hg19 22q11.23(chr22:24134807-24271732)x3	DERL3, MIF +2 more	Copy number gain	See cases	GUncertain significance
Select item 442572	GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GUncertain significance
Select item 442428	GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3	ADORA2A, C22orf15 +25 more	Copy number gain	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 442258	GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1	C22orf15, CABIN1 +18 more	Copy number loss	See cases	GPathogenic
Select item 442087	GRCh37/hg19 22q11.23(chr22:24174144-24258392)x3	DERL3, MIF +2 more	Copy number gain	See cases	GUncertain significance
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
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 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 395052	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3	CABIN1, ADORA2A +29 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 253981	GRCh37/hg19 22q11.23(chr22:23950632-24276233)x4	C22orf15, DERL3 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253913	GRCh37/hg19 22q11.23(chr22:24132414-24256480)x3	SLC2A11, SMARCB1 +2 more	Copy number gain	See cases	GUncertain significance
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 253435	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3	RSPH14, SNRPD3 +29 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 219016	GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3	MIF, MMP11 +25 more	Copy number gain	See cases	GLikely pathogenic
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 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 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 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 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	GUncertain significance

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