ClinVar for Gene (Select 266747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153601	NM_153615.2(RGL4):c.915G>C (p.Glu305Asp)	RGL4 (E305D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153600	NM_153615.2(RGL4):c.845T>C (p.Leu282Pro)	RGL4 (L282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153599	NM_153615.2(RGL4):c.713T>C (p.Val238Ala)	RGL4 (V238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153598	NM_153615.2(RGL4):c.533C>T (p.Pro178Leu)	RGL4 (P178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153597	NM_153615.2(RGL4):c.400G>A (p.Ala134Thr)	RGL4 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153596	NM_153615.2(RGL4):c.259C>T (p.Arg87Trp)	RGL4 (R87W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153595	NM_153615.2(RGL4):c.248G>A (p.Arg83Gln)	RGL4 (R83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153594	NM_153615.2(RGL4):c.178C>T (p.Arg60Cys)	RGL4 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153593	NM_153615.2(RGL4):c.1172C>T (p.Pro391Leu)	RGL4 (P12L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153592	NM_153615.2(RGL4):c.1027A>G (p.Lys343Glu)	RGL4 (K343E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
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 2652967	NM_153615.2(RGL4):c.1125C>G (p.Pro375=)	RGL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604083	NM_153615.2(RGL4):c.1406A>G (p.Glu469Gly)	RGL4 (E469G +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2599896	NM_153615.2(RGL4):c.908C>T (p.Ala303Val)	RGL4 (A303V)	Single nucleotide variant (missense variant)	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 2545919	NM_153615.2(RGL4):c.587C>T (p.Ser196Phe)	RGL4 (S196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520700	NM_153615.2(RGL4):c.560T>C (p.Val187Ala)	RGL4 (V187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512374	NM_153615.2(RGL4):c.869G>A (p.Arg290Gln)	RGL4 (R290Q)	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 2471419	NM_153615.2(RGL4):c.1052A>C (p.Lys351Thr)	RGL4 (K351T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466602	NM_153615.2(RGL4):c.1244C>A (p.Thr415Asn)	RGL4 (T36N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376136	NM_153615.2(RGL4):c.176T>C (p.Leu59Ser)	RGL4 (L59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373580	NM_153615.2(RGL4):c.1128G>C (p.Gln376His)	LOC130067094, RGL4 (Q376H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359710	NM_153615.2(RGL4):c.695C>T (p.Ala232Val)	RGL4 (A232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354445	NM_153615.2(RGL4):c.769G>A (p.Glu257Lys)	RGL4 (E257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286035	NM_153615.2(RGL4):c.487G>C (p.Gly163Arg)	RGL4 (G163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282476	NM_153615.2(RGL4):c.1324C>T (p.Pro442Ser)	RGL4 (P442S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257914	NM_153615.2(RGL4):c.1049A>G (p.Lys350Arg)	RGL4 (K350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228499	NM_153615.2(RGL4):c.1070G>C (p.Arg357Thr)	RGL4 (R357T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221884	NM_153615.2(RGL4):c.1148G>A (p.Arg383Gln)	LOC130067094, RGL4 (R383Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212592	NM_153615.2(RGL4):c.751G>C (p.Gly251Arg)	RGL4 (G251R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212590	NM_153615.2(RGL4):c.136T>C (p.Tyr46His)	RGL4 (Y46H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212589	NM_153615.2(RGL4):c.1337T>C (p.Phe446Ser)	RGL4 (F446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212588	NM_153615.2(RGL4):c.1058C>T (p.Thr353Ile)	RGL4 (T353I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212587	NM_153615.2(RGL4):c.1030G>C (p.Glu344Gln)	RGL4 (E344Q)	Single nucleotide variant (missense 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 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 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	SLC2A11, ZNF70 +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 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 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 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 442258	GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1	C22orf15, CABIN1 +18 more	Copy number loss	See cases	GPathogenic
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 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

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