ClinVar for Gene (Select 129025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335352	NM_080740.5(ZNF280A):c.916G>A (p.Val306Ile)	IGL, ZNF280A (V306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335351	NM_080740.5(ZNF280A):c.1295T>C (p.Phe432Ser)	IGL, ZNF280A (F432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335350	NM_080740.5(ZNF280A):c.46A>C (p.Asn16His)	IGL, ZNF280A (N16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194860	NM_080740.5(ZNF280A):c.982G>A (p.Asp328Asn)	IGL, ZNF280A (D328N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194859	NM_080740.5(ZNF280A):c.746C>T (p.Ala249Val)	IGL, ZNF280A (A249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194858	NM_080740.5(ZNF280A):c.715C>T (p.Leu239Phe)	IGL, ZNF280A (L239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194857	NM_080740.5(ZNF280A):c.238C>T (p.Arg80Cys)	IGL, ZNF280A (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194856	NM_080740.5(ZNF280A):c.181A>C (p.Asn61His)	IGL, ZNF280A (N61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194854	NM_080740.5(ZNF280A):c.1376A>G (p.Gln459Arg)	IGL, ZNF280A (Q459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194853	NM_080740.5(ZNF280A):c.1219G>A (p.Ala407Thr)	IGL, ZNF280A (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194851	NM_080740.5(ZNF280A):c.1093G>C (p.Val365Leu)	IGL, ZNF280A (V365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194850	NM_080740.5(ZNF280A):c.1078A>G (p.Met360Val)	IGL, ZNF280A (M360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194849	NM_080740.5(ZNF280A):c.1021C>T (p.Arg341Trp)	IGL, ZNF280A (R341W)	Single nucleotide variant (missense variant)	not specified	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 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
Select item 2685673	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	CCDC116, GGT2 +19 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 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2652955	NM_080740.5(ZNF280A):c.48T>C (p.Asn16=)	IGL, ZNF280A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652954	NM_080740.5(ZNF280A):c.435T>C (p.Thr145=)	IGL, ZNF280A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652953	NM_080740.5(ZNF280A):c.819C>T (p.Ile273=)	IGL, ZNF280A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2565307	NM_080740.5(ZNF280A):c.1011G>C (p.Gln337His)	IGL, ZNF280A (Q337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535095	NM_080740.5(ZNF280A):c.1544C>T (p.Pro515Leu)	IGL, ZNF280A (P515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516233	NM_080740.5(ZNF280A):c.251C>T (p.Ala84Val)	IGL, ZNF280A (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495392	NM_080740.5(ZNF280A):c.1553C>G (p.Ser518Cys)	IGL, ZNF280A (S518C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464799	NM_080740.5(ZNF280A):c.1211C>T (p.Ser404Leu)	IGL, ZNF280A (S404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461322	NM_080740.5(ZNF280A):c.685C>T (p.Pro229Ser)	IGL, ZNF280A (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460160	NM_080740.5(ZNF280A):c.1132G>A (p.Val378Ile)	IGL, ZNF280A (V378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411536	NM_080740.5(ZNF280A):c.1177C>G (p.Pro393Ala)	IGL, ZNF280A (P393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397306	NM_080740.5(ZNF280A):c.566G>T (p.Gly189Val)	IGL, ZNF280A (G189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396988	NM_080740.5(ZNF280A):c.347C>A (p.Thr116Asn)	IGL, ZNF280A (T116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393492	NM_080740.5(ZNF280A):c.1540G>T (p.Asp514Tyr)	IGL, ZNF280A (D514Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382880	NM_080740.5(ZNF280A):c.298A>C (p.Ile100Leu)	IGL, ZNF280A (I100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358294	NM_080740.5(ZNF280A):c.692C>G (p.Ala231Gly)	IGL, ZNF280A (A231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343174	NM_080740.5(ZNF280A):c.1577C>T (p.Thr526Met)	IGL, ZNF280A (T526M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334846	NM_080740.5(ZNF280A):c.1492G>C (p.Val498Leu)	IGL, ZNF280A (V498L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318078	NM_080740.5(ZNF280A):c.1513A>T (p.Met505Leu)	IGL, ZNF280A (M505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290468	NM_080740.5(ZNF280A):c.127G>A (p.Asp43Asn)	IGL, ZNF280A (D43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236455	NM_080740.5(ZNF280A):c.1556C>T (p.Pro519Leu)	IGL, ZNF280A (P519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219196	NM_080740.5(ZNF280A):c.869C>T (p.Pro290Leu)	IGL, ZNF280A (P290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208695	NM_080740.5(ZNF280A):c.1016G>A (p.Cys339Tyr)	IGL, ZNF280A (C339Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207924	NM_080740.5(ZNF280A):c.851A>G (p.His284Arg)	IGL, ZNF280A (H284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808649	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GPathogenic
Select item 1807776	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 1706504	GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	See cases	GPathogenic
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 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1330164	GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3	MIR130B, CCDC116 +15 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	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 973580	NC_000022.10:g.21514655_22986816del	CCDC116, GGT2 +18 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 929328	GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3	CCDC116, MAPK1 +12 more	Copy number gain	See cases	GPathogenic
Select item 830215	NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del	CCDC116, GGTLC2 +16 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 816560	GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1	MAPK1, PPM1F +13 more	Copy number loss	not provided	GPathogenic
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 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 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 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 599193	NC_000022.10:g.21808950_22963000del1154051	CCDC116, MAPK1 +15 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
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 565024	GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 565017	GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1	CCDC116, HIC2 +16 more	Copy number loss	not provided	GPathogenic
Select item 565016	GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GUncertain significance
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 442574	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1	CCDC116, HIC2 +16 more	Copy number loss	See cases	GPathogenic
Select item 442278	GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3	CCDC116, GGTLC2 +17 more	Copy number gain	See cases	GUncertain significance
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 441808	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1	CCDC116, HIC2 +16 more	Copy number loss	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 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 253531	GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3	CCDC116, GGTLC2 +14 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 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 253360	GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1	CCDC116, MAPK1 +13 more	Copy number loss	See cases	GLikely pathogenic
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 155200	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	CCDC116, IGL +92 more	Copy number loss	See cases	GPathogenic
Select item 153062	GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	CCDC116, GGTLC2 +94 more	Copy number loss	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	AIFM3, ARVCF +378 more	Copy number loss	See cases	GPathogenic
Select item 151375	GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3	CCDC116, GGTLC2 +86 more	Copy number gain	See cases	GPathogenic
Select item 150486	GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1	CCDC116, FAM230B +99 more	Copy number loss	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	LOC130066994, LOC130066995 +287 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

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