ClinVar for Gene (Select 164592) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263797	NM_152612.3(CCDC116):c.514C>T (p.His172Tyr)	CCDC116 (H172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263796	NM_152612.3(CCDC116):c.1220G>C (p.Ser407Thr)	CCDC116 (S407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263795	NM_152612.3(CCDC116):c.239G>T (p.Ser80Ile)	CCDC116 (S80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263793	NM_152612.3(CCDC116):c.1027A>G (p.Thr343Ala)	CCDC116 (T343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263792	NM_152612.3(CCDC116):c.1338G>C (p.Leu446Phe)	CCDC116 (L446F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263791	NM_152612.3(CCDC116):c.1631G>T (p.Arg544Leu)	CCDC116 (R544L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263790	NM_152612.3(CCDC116):c.1607A>C (p.Gln536Pro)	CCDC116 (Q536P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263789	NM_152612.3(CCDC116):c.1271T>C (p.Met424Thr)	CCDC116 (M424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263788	NM_152612.3(CCDC116):c.1259C>T (p.Ser420Leu)	CCDC116 (S420L)	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 3138277	NM_152612.3(CCDC116):c.747C>A (p.Ser249Arg)	CCDC116 (S249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138276	NM_152612.3(CCDC116):c.73G>T (p.Val25Leu)	CCDC116 (V25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138274	NM_152612.3(CCDC116):c.233C>T (p.Thr78Ile)	CCDC116 (T78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138273	NM_152612.3(CCDC116):c.1811A>G (p.Gln604Arg)	CCDC116 (Q604R)	Single nucleotide variant (missense variant)	not specified	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 2652947	NM_152612.3(CCDC116):c.1309G>A (p.Asp437Asn)	CCDC116 (D437N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652946	NM_152612.3(CCDC116):c.937C>T (p.Leu313=)	CCDC116	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610385	NM_152612.3(CCDC116):c.160A>C (p.Ser54Arg)	CCDC116 (S54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598481	NM_152612.3(CCDC116):c.325G>T (p.Val109Leu)	CCDC116 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565958	NM_152612.3(CCDC116):c.1040C>T (p.Pro347Leu)	CCDC116 (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552604	NM_152612.3(CCDC116):c.1139G>A (p.Arg380His)	CCDC116 (R380H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542932	NM_152612.3(CCDC116):c.803G>T (p.Arg268Leu)	CCDC116 (R268L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526341	NM_152612.3(CCDC116):c.422C>T (p.Thr141Ile)	CCDC116 (T141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514968	NM_152612.3(CCDC116):c.87G>T (p.Lys29Asn)	CCDC116 (K29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486357	NM_152612.3(CCDC116):c.1559G>A (p.Ser520Asn)	CCDC116 (S520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482058	NM_152612.3(CCDC116):c.410G>A (p.Arg137His)	CCDC116 (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462846	NM_152612.3(CCDC116):c.1708G>A (p.Gly570Ser)	CCDC116 (G570S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459102	NM_152612.3(CCDC116):c.1556G>A (p.Cys519Tyr)	CCDC116 (C519Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409703	NM_152612.3(CCDC116):c.380G>A (p.Arg127Gln)	CCDC116 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393550	NM_152612.3(CCDC116):c.1241C>T (p.Pro414Leu)	CCDC116 (P414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393411	NM_152612.3(CCDC116):c.1366G>T (p.Asp456Tyr)	CCDC116 (D456Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383233	NM_152612.3(CCDC116):c.1634C>G (p.Ser545Cys)	CCDC116 (S545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376407	NM_152612.3(CCDC116):c.1045C>G (p.Leu349Val)	CCDC116 (L349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364190	NM_152612.3(CCDC116):c.14G>A (p.Arg5His)	CCDC116 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361968	NM_152612.3(CCDC116):c.994G>A (p.Gly332Ser)	CCDC116 (G332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327633	NM_152612.3(CCDC116):c.305C>A (p.Thr102Lys)	CCDC116 (T102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313033	NM_152612.3(CCDC116):c.1289G>A (p.Arg430His)	CCDC116 (R430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300828	NM_152612.3(CCDC116):c.415C>T (p.Arg139Trp)	CCDC116 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294179	NM_152612.3(CCDC116):c.1760A>G (p.Asp587Gly)	CCDC116 (D587G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286520	NM_152612.3(CCDC116):c.130C>T (p.Arg44Cys)	CCDC116 (R44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263556	NM_152612.3(CCDC116):c.371C>T (p.Ala124Val)	CCDC116 (A124V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263360	NM_152612.3(CCDC116):c.935C>A (p.Ala312Asp)	CCDC116 (A312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254344	NM_152612.3(CCDC116):c.1537C>T (p.Arg513Trp)	CCDC116 (R513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253076	NM_152612.3(CCDC116):c.1618A>G (p.Thr540Ala)	CCDC116 (T540A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244083	NM_152612.3(CCDC116):c.1631G>A (p.Arg544His)	CCDC116 (R544H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234124	NM_152612.3(CCDC116):c.1023G>C (p.Glu341Asp)	CCDC116 (E341D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225461	NM_152612.3(CCDC116):c.499G>A (p.Gly167Ser)	CCDC116 (G167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222051	NM_152612.3(CCDC116):c.1472C>T (p.Ser491Leu)	CCDC116 (S491L)	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	AIFM3, CCDC116 +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 980806	GRCh37/hg19 22q11.21(chr22:21916216-21998113)x1	CCDC116, SDF2L1 +2 more	Copy number loss	not provided	GUncertain significance
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 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 785681	NM_152612.3(CCDC116):c.754G>A (p.Val252Met)	CCDC116 (V252M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781612	NM_152612.3(CCDC116):c.1707C>T (p.Thr569=)	CCDC116	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781611	NM_152612.3(CCDC116):c.878C>T (p.Pro293Leu)	CCDC116 (P293L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777668	NM_152612.3(CCDC116):c.1235A>G (p.Lys412Arg)	CCDC116 (K412R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769149	NM_152612.3(CCDC116):c.827T>A (p.Ile276Asn)	CCDC116 (I276N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712820	NM_152612.3(CCDC116):c.522G>A (p.Arg174=)	CCDC116	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710989	NM_152612.3(CCDC116):c.906C>T (p.Asn302=)	CCDC116	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710988	NM_152612.3(CCDC116):c.73-8C>T	CCDC116	Single nucleotide variant (intron 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 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

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