ClinVar for Gene (Select 91227) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281341	NM_199127.3(GGTLC2):c.314C>T (p.Pro105Leu)	GGTLC2, IGL (P105L)	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 3099694	NM_199127.3(GGTLC2):c.640G>A (p.Glu214Lys)	GGTLC2, IGL (E214K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099693	NM_199127.3(GGTLC2):c.589G>A (p.Val197Ile)	GGTLC2, IGL (V197I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099692	NM_199127.3(GGTLC2):c.556G>A (p.Ala186Thr)	GGTLC2, IGL (A220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099691	NM_199127.3(GGTLC2):c.536G>A (p.Arg179Gln)	GGTLC2, IGL (R179Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099690	NM_199127.3(GGTLC2):c.535C>T (p.Arg179Trp)	GGTLC2, IGL (R179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099689	NM_199127.3(GGTLC2):c.503T>C (p.Ile168Thr)	GGTLC2, IGL (I168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099688	NM_199127.3(GGTLC2):c.498A>C (p.Arg166Ser)	GGTLC2, IGL (R166S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099687	NM_199127.3(GGTLC2):c.46G>C (p.Asp16His)	GGTLC2, IGL (D16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099686	NM_199127.3(GGTLC2):c.368G>C (p.Ser123Thr)	GGTLC2, IGL (S123T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099685	NM_199127.3(GGTLC2):c.314C>G (p.Pro105Arg)	GGTLC2, IGL (P105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099684	NM_199127.3(GGTLC2):c.262G>A (p.Glu88Lys)	GGTLC2, IGL (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099683	NM_199127.3(GGTLC2):c.205A>G (p.Ser69Gly)	GGTLC2, IGL (S69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062454	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3025577	NM_199127.3(GGTLC2):c.176+4G>A	GGTLC2, IGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2652956	NM_199127.3(GGTLC2):c.103G>T (p.Gly35Trp)	GGTLC2, IGL (G35W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2594520	NM_199127.3(GGTLC2):c.592C>T (p.Arg198Cys)	GGTLC2, IGL (R198C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590819	NM_199127.3(GGTLC2):c.593G>A (p.Arg198His)	GGTLC2, IGL (R232H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578929	GRCh37/hg19 22q11.22-11.23(chr22:22989224-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2570227	NM_199127.3(GGTLC2):c.193C>T (p.Arg65Cys)	GGTLC2, IGL (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536546	NM_199127.3(GGTLC2):c.290A>G (p.Asn97Ser)	GGTLC2, IGL (N97S)	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 2474596	NM_199127.3(GGTLC2):c.601G>T (p.Gly201Cys)	GGTLC2, IGL (G235C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464104	NM_199127.3(GGTLC2):c.389T>C (p.Met130Thr)	GGTLC2, IGL (M130T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457980	NM_199127.3(GGTLC2):c.320C>T (p.Ser107Leu)	GGTLC2, IGL (S107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411543	NM_199127.3(GGTLC2):c.197C>A (p.Ser66Tyr)	GGTLC2, IGL (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410209	NM_199127.3(GGTLC2):c.8C>T (p.Ser3Phe)	GGTLC2, IGL (S3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400244	NM_199127.3(GGTLC2):c.485C>T (p.Thr162Met)	GGTLC2, IGL (T162M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362087	NM_199127.3(GGTLC2):c.473T>C (p.Leu158Pro)	GGTLC2, IGL (L158P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302085	NM_199127.3(GGTLC2):c.320C>G (p.Ser107Trp)	GGTLC2, IGL (S107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268100	NM_199127.3(GGTLC2):c.127G>A (p.Val43Ile)	GGTLC2, IGL (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262349	NM_199127.3(GGTLC2):c.251A>G (p.Asn84Ser)	GGTLC2, IGL (N84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243025	NM_199127.3(GGTLC2):c.335C>A (p.Thr112Lys)	GGTLC2, IGL (T112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223542	NM_199127.3(GGTLC2):c.347G>T (p.Gly116Val)	GGTLC2, IGL (G116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879569	GRCh37/hg19 22q11.22-11.23(chr22:22988816-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	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 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 1341126	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	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 1340419	GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3	GGTLC2, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340227	GRCh37/hg19 22q11.22(chr22:22953515-23410918)x3	GGTLC2, IGLC1 +2 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 979599	GRCh37/hg19 22q11.22-11.23(chr22:22898364-23653963)x3	IGLC1, BCR +6 more	Copy number gain	not provided	GUncertain significance
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 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 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 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 687375	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 687352	GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652512)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687011	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 686993	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	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 686676	GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652562)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686040	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	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 685586	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	BCR, CCDC116 +25 more	Copy number loss	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 638672	GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)	BCR, GGTLC2 +5 more	Copy number loss	Abnormality of the vertebral column +2 more	GPathogenic
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 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 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 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 565007	GRCh37/hg19 22q11.22-11.23(chr22:22953514-23654007)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 545273	NC_000022.11:g.(?_22638171)_(23320336_?)del	IGLL5, IGLV2-11 +85 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 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 402121	GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1	GGTLC2, GNAZ +5 more	Copy number loss	See cases	GLikely pathogenic
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 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

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