ClinVar for Gene (Select 23759) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217218	NM_014337.4(PPIL2):c.977G>A (p.Arg326Gln)	PPIL2 (R326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217217	NM_014337.4(PPIL2):c.949G>A (p.Asp317Asn)	PPIL2 (D317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217216	NM_014337.4(PPIL2):c.779C>T (p.Thr260Ile)	PPIL2 (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217215	NM_014337.4(PPIL2):c.574G>A (p.Asp192Asn)	PPIL2 (D192N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217214	NM_014337.4(PPIL2):c.454C>T (p.Arg152Trp)	PPIL2 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217213	NM_014337.4(PPIL2):c.152A>C (p.Tyr51Ser)	PPIL2 (Y51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217211	NM_014337.4(PPIL2):c.14A>G (p.Gln5Arg)	PPIL2 (Q5R)	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 2684932	GRCh37/hg19 22q11.21-11.22(chr22:22043937-22728895)x3	MAPK1, PPIL2 +5 more	Copy number gain	not provided	GUncertain significance
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 2591751	NM_014337.4(PPIL2):c.169G>A (p.Asp57Asn)	PPIL2 (D57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568677	NM_014337.4(PPIL2):c.379G>A (p.Ala127Thr)	PPIL2 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555181	NM_014337.4(PPIL2):c.1181A>T (p.His394Leu)	PPIL2 (H394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552238	NM_014337.4(PPIL2):c.1019C>T (p.Thr340Met)	PPIL2 (T340M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548944	NM_014337.4(PPIL2):c.598A>G (p.Thr200Ala)	PPIL2 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548933	NM_014337.4(PPIL2):c.1121A>G (p.Asn374Ser)	PPIL2 (N374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548717	NM_014337.4(PPIL2):c.718C>A (p.His240Asn)	PPIL2 (H240N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542455	NM_014337.4(PPIL2):c.482C>T (p.Pro161Leu)	PPIL2 (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526381	NM_014337.4(PPIL2):c.1004C>T (p.Pro335Leu)	PPIL2 (P335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485189	NM_014337.4(PPIL2):c.649G>C (p.Gly217Arg)	PPIL2 (G217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455409	NM_014337.4(PPIL2):c.289A>G (p.Ser97Gly)	PPIL2 (S97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393002	NM_014337.4(PPIL2):c.1262G>A (p.Arg421His)	PPIL2 (R421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368726	NM_014337.4(PPIL2):c.815G>A (p.Arg272His)	PPIL2 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342444	NM_014337.4(PPIL2):c.1535G>A (p.Arg512Gln)	PPIL2 (R512Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317157	NM_014337.4(PPIL2):c.1216G>A (p.Val406Ile)	PPIL2 (V406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309158	NM_014337.4(PPIL2):c.332C>G (p.Thr111Ser)	PPIL2 (T111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296797	NM_014337.4(PPIL2):c.1303G>A (p.Val435Met)	PPIL2 (V435M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295783	NM_014337.4(PPIL2):c.218A>G (p.Tyr73Cys)	PPIL2 (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273201	NM_014337.4(PPIL2):c.976C>T (p.Arg326Trp)	PPIL2 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269318	NM_014337.4(PPIL2):c.761C>T (p.Ala254Val)	PPIL2 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266405	NM_014337.4(PPIL2):c.1013C>A (p.Thr338Lys)	PPIL2 (T338K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263036	NM_014337.4(PPIL2):c.511A>G (p.Asn171Asp)	PPIL2 (N171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253605	NM_014337.4(PPIL2):c.862A>G (p.Lys288Glu)	PPIL2 (K288E)	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 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 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 1701448	GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1	HIC2, LZTR1 +15 more	Copy number loss	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 1340186	GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3	CCDC116, MAPK1 +9 more	Copy number gain	not provided	GUncertain significance
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 980808	GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3	AIFM3, ARVCF +60 more	Copy number gain	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 816562	GRCh37/hg19 22q11.21-11.22(chr22:22044995-22335910)x3	PPM1F-AS1, YPEL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816561	GRCh37/hg19 22q11.21(chr22:22030439-22053776)x1	PPIL2, YPEL1	Copy number loss	not provided	GUncertain significance
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 816205	GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1	HIC2, YDJC +23 more	Copy number loss	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 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 769150	NM_014337.4(PPIL2):c.372C>T (p.Asn124=)	PPIL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688960	GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3	CCDC116, MAPK1 +10 more	Copy number gain	not provided	GUncertain significance
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 686829	GRCh37/hg19 22q11.21(chr22:22043338-22173092)x3	MAPK1, PPIL2 +1 more	Copy number gain	not provided	GUncertain significance
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 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 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 443513	GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1	AIFM3, CCDC116 +23 more	Copy number loss	See cases	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 395490	GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3	AIFM3, CCDC116 +23 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 154610	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	CCDC116, FAM230B +94 more	Copy number gain	See cases	GUncertain significance

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