ClinVar for Gene (Select 388886) - 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 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 3120960	NM_207644.3(LRRC75B):c.94G>T (p.Val32Leu)	GGT1, LRRC75B (V32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120959	NM_207644.3(LRRC75B):c.862G>A (p.Ala288Thr)	GGT1, LRRC75B (A288T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120958	NM_207644.3(LRRC75B):c.832G>C (p.Glu278Gln)	GGT1, LRRC75B (E278Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120957	NM_207644.3(LRRC75B):c.821C>T (p.Pro274Leu)	GGT1, LRRC75B (P274L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120956	NM_207644.3(LRRC75B):c.691G>T (p.Ala231Ser)	GGT1, LRRC75B (A231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120955	NM_207644.3(LRRC75B):c.533A>G (p.His178Arg)	GGT1, LRRC75B (H178R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120954	NM_207644.3(LRRC75B):c.364A>G (p.Thr122Ala)	GGT1, LRRC75B (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120952	NM_207644.3(LRRC75B):c.242C>A (p.Pro81Gln)	GGT1, LRRC75B (P81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120951	NM_207644.3(LRRC75B):c.142G>C (p.Glu48Gln)	GGT1, LRRC75B (E48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120950	NM_207644.3(LRRC75B):c.142G>A (p.Glu48Lys)	GGT1, LRRC75B (E48K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120949	NM_207644.3(LRRC75B):c.109G>A (p.Glu37Lys)	GGT1, LRRC75B (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	GGTLC2, GNAZ +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2653000	NM_207644.3(LRRC75B):c.921C>T (p.Pro307=)	GGT1, LRRC75B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2556499	NM_207644.3(LRRC75B):c.372C>G (p.His124Gln)	GGT1, LRRC75B (H124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533983	NM_207644.3(LRRC75B):c.232T>A (p.Phe78Ile)	GGT1, LRRC75B (F78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479948	NM_207644.3(LRRC75B):c.85G>A (p.Glu29Lys)	GGT1, LRRC75B (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478786	NM_207644.3(LRRC75B):c.365C>T (p.Thr122Ile)	GGT1, LRRC75B (T122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368092	NM_207644.3(LRRC75B):c.431G>C (p.Ser144Thr)	GGT1, LRRC75B (S144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366471	NM_207644.3(LRRC75B):c.626G>A (p.Arg209His)	GGT1, LRRC75B (R209H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354983	NM_207644.3(LRRC75B):c.571G>C (p.Gly191Arg)	GGT1, LRRC75B (G191R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353882	NM_207644.3(LRRC75B):c.235C>G (p.Leu79Val)	GGT1, LRRC75B (L79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348871	NM_207644.3(LRRC75B):c.656G>A (p.Arg219Gln)	GGT1, LRRC75B (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347196	NM_207644.3(LRRC75B):c.400C>T (p.Arg134Cys)	GGT1, LRRC75B (R134C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2336783	NM_207644.3(LRRC75B):c.807G>C (p.Gln269His)	GGT1, LRRC75B (Q269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324479	NM_207644.3(LRRC75B):c.844C>A (p.Leu282Ile)	GGT1, LRRC75B (L282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308132	NM_207644.3(LRRC75B):c.284G>A (p.Arg95Gln)	GGT1, LRRC75B (R95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306696	NM_207644.3(LRRC75B):c.37G>A (p.Ala13Thr)	GGT1, LRRC75B (A13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289799	NM_207644.3(LRRC75B):c.106C>T (p.Arg36Cys)	GGT1, LRRC75B (R36C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258986	NM_207644.3(LRRC75B):c.784G>A (p.Gly262Ser)	GGT1, LRRC75B (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254354	NM_207644.3(LRRC75B):c.325T>C (p.Ser109Pro)	GGT1, LRRC75B (S109P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226320	NM_207644.3(LRRC75B):c.502G>A (p.Val168Met)	GGT1, LRRC75B (V168M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 1808423	GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3	ADORA2A, CABIN1 +12 more	Copy number gain	not provided	GUncertain significance
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 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 1328446	GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3	DDT, ADORA2A +25 more	Copy number gain	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 816492	GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3	GGT1, DDT +19 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
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 441055	GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3	ADORA2A, CRYBB2 +12 more	Copy number gain	not provided	Gnot provided
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 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253500	GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3	ADORA2A, SPECC1L +8 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 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
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 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
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 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance

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