ClinVar for Gene (Select 23119) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284265	NM_015094.3(HIC2):c.19G>T (p.Ala7Ser)	HIC2 (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284264	NM_015094.3(HIC2):c.545G>T (p.Arg182Leu)	HIC2 (R182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284263	NM_015094.3(HIC2):c.674C>T (p.Ala225Val)	HIC2 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148918	GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	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 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3148843	GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3105794	NM_015094.3(HIC2):c.841C>T (p.Pro281Ser)	HIC2 (P281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105793	NM_015094.3(HIC2):c.839C>T (p.Ser280Leu)	HIC2 (S280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105792	NM_015094.3(HIC2):c.646C>T (p.Arg216Trp)	HIC2 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105791	NM_015094.3(HIC2):c.560C>T (p.Ala187Val)	HIC2 (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105790	NM_015094.3(HIC2):c.530G>C (p.Gly177Ala)	HIC2 (G177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105789	NM_015094.3(HIC2):c.490C>T (p.Arg164Trp)	HIC2 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105788	NM_015094.3(HIC2):c.28T>C (p.Trp10Arg)	HIC2 (W10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105787	NM_015094.3(HIC2):c.159G>C (p.Glu53Asp)	HIC2 (E53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105786	NM_015094.3(HIC2):c.1358G>A (p.Ser453Asn)	HIC2 (S453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105785	NM_015094.3(HIC2):c.1290G>C (p.Glu430Asp)	HIC2 (E430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105784	NM_015094.3(HIC2):c.1198G>A (p.Glu400Lys)	HIC2 (E400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105783	NM_015094.3(HIC2):c.1178A>T (p.Tyr393Phe)	HIC2 (Y393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105782	NM_015094.3(HIC2):c.1055G>A (p.Arg352Gln)	HIC2 (R352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105781	NM_015094.3(HIC2):c.1046C>G (p.Pro349Arg)	HIC2 (P349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2652945	NM_015094.3(HIC2):c.366C>T (p.Ala122=)	HIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597602	NM_015094.3(HIC2):c.1043C>T (p.Ser348Phe)	HIC2 (S348F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596612	NM_015094.3(HIC2):c.34G>A (p.Ala12Thr)	HIC2 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591239	NM_015094.3(HIC2):c.1063G>C (p.Ala355Pro)	HIC2 (A355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552230	NM_015094.3(HIC2):c.1247G>C (p.Gly416Ala)	HIC2 (G416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541054	NM_015094.3(HIC2):c.686G>A (p.Gly229Asp)	HIC2 (G229D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539511	NM_015094.3(HIC2):c.787C>A (p.Pro263Thr)	HIC2 (P263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535947	NM_015094.3(HIC2):c.1493A>G (p.Tyr498Cys)	HIC2 (Y498C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528053	NM_015094.3(HIC2):c.452C>T (p.Ala151Val)	HIC2 (A151V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523761	NM_015094.3(HIC2):c.1577C>T (p.Thr526Met)	HIC2 (T526M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478472	NM_015094.3(HIC2):c.1481C>T (p.Pro494Leu)	HIC2 (P494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470258	NM_015094.3(HIC2):c.773C>T (p.Pro258Leu)	HIC2 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468905	NM_015094.3(HIC2):c.791A>G (p.His264Arg)	HIC2 (H264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468306	NM_015094.3(HIC2):c.950G>A (p.Ser317Asn)	HIC2 (S317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467745	NM_015094.3(HIC2):c.76C>T (p.Pro26Ser)	HIC2 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457225	NM_015094.3(HIC2):c.1267G>A (p.Ala423Thr)	HIC2 (A423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410868	NM_015094.3(HIC2):c.1447G>T (p.Gly483Cys)	HIC2 (G483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404583	NM_015094.3(HIC2):c.955C>G (p.Leu319Val)	HIC2 (L319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400963	NM_015094.3(HIC2):c.35C>T (p.Ala12Val)	HIC2 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381731	NM_015094.3(HIC2):c.686G>T (p.Gly229Val)	HIC2 (G229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378806	NM_015094.3(HIC2):c.848C>T (p.Ala283Val)	HIC2 (A283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350693	NM_015094.3(HIC2):c.979C>T (p.Arg327Trp)	HIC2 (R327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331910	NM_015094.3(HIC2):c.571C>T (p.Leu191Phe)	HIC2 (L191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329574	NM_015094.3(HIC2):c.1489G>A (p.Ala497Thr)	HIC2 (A497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323258	NM_015094.3(HIC2):c.593A>G (p.Asp198Gly)	HIC2 (D198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320031	NM_015094.3(HIC2):c.1261G>A (p.Ala421Thr)	HIC2 (A421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315459	NM_015094.3(HIC2):c.1229C>T (p.Ala410Val)	HIC2 (A410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293872	NM_015094.3(HIC2):c.1061A>C (p.Glu354Ala)	HIC2 (E354A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293044	NM_015094.3(HIC2):c.918G>C (p.Met306Ile)	HIC2 (M306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289495	NM_015094.3(HIC2):c.413A>G (p.Lys138Arg)	HIC2 (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283064	NM_015094.3(HIC2):c.768G>C (p.Leu256Phe)	HIC2 (L256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270049	NM_015094.3(HIC2):c.473G>A (p.Arg158Gln)	HIC2 (R158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808690	GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
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 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808611	GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1	AIFM3, CRKL +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	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 1807748	GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1	P2RX6, RIMBP3B +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807721	GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807715	GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1708461	GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1	HIC2, KLHL22 +14 more	Copy number loss	See cases	GPathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1707429	GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1	AIFM3, CRKL +19 more	Copy number loss	See cases	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 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	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 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge 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 1340542	GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1	AIFM3, CRKL +18 more	Copy number loss	not provided	GPathogenic
Select item 1340046	GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1	SERPIND1, SLC7A4 +10 more	Copy number loss	not provided	GLikely pathogenic
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 974713	NC_000022.10:g.21802791_22555544dup	HIC2	Duplication	Megacolon	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 929350	GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1	AIFM3, ARVCF +48 more	Copy number loss	See cases	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

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