5853[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	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 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	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 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145536	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57261	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3	AIFM3, CCDC116 +101 more	Copy number gain	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	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
Select item 148420	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1	CCDC116, FAM230B +102 more	Copy number loss	See cases	GPathogenic
Select item 148419	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3	CCDC116, FAM230B +102 more	Copy number gain	See cases	GUncertain significance
Select item 57332	GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1	CCDC116, FAM230B +99 more	Copy number loss	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 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59326	GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	BCR, CCDC116 +177 more	Copy number gain	See cases	GPathogenic
Select item 59253	GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	BCR, CCDC116 +180 more	Copy number loss	See cases	GPathogenic
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 147610	GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1	CCDC116, HIC2 +90 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 146777	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic
Select item 146776	GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3	CCDC116, IGL +89 more	Copy number gain	See cases	GPathogenic
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 148699	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	LOC129929044, LOC129929045 +176 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 146442	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	BCR, CCDC116 +179 more	Copy number loss	See cases	GPathogenic
Select item 59327	GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	BCR, CCDC116 +179 more	Copy number gain	See cases	GPathogenic
Select item 32689	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	CCDC116, IGL +89 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 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 57444	GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1	CCDC116, IGL +80 more	Copy number loss	See cases	GPathogenic
Select item 59328	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3	CCDC116, GGTLC2 +84 more	Copy number gain	See cases	GPathogenic
Select item 59283	GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	BCR, CCDC116 +168 more	Copy number loss	See cases	GPathogenic
Select item 59282	GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1	CCDC116, IGL +83 more	Copy number loss	See cases	GPathogenic
Select item 545270	NC_000022.11:g.(?_21956007)_(22224188_?)del	IGL, IGLV10-54 +20 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545271	NC_000022.11:g.(?_21959229)_(22218520_?)del	IGL, IGLV10-54 +20 more	Deletion	Autism	GLikely pathogenic
Select item 147127	GRCh38/hg38 22q11.22(chr22:21968759-22220398)x3	IGL, IGLV10-54 +20 more	Copy number gain	See cases	GBenign
Select item 150433	GRCh38/hg38 22q11.22(chr22:21981865-22140715)x3	IGL, IGLV4-69 +10 more	Copy number gain	See cases	GLikely benign
Select item 149636	GRCh38/hg38 22q11.22(chr22:21981865-22202315)x1	IGL, IGLV11-55 +18 more	Copy number loss	See cases	GLikely benign
Select item 149634	GRCh38/hg38 22q11.22(chr22:21981865-22202315)x3	IGL, IGLV11-55 +18 more	Copy number gain	See cases	GLikely benign
Select item 161024	GRCh38/hg38 22q11.22(chr22:21981871-22202339)x3	IGL, IGLV11-55 +18 more	Copy number gain	See cases	GBenign
Select item 146144	GRCh38/hg38 22q11.22(chr22:21981871-22202339)x1	IGL, IGLV11-55 +18 more	Copy number loss	See cases	GBenign
Select item 147186	GRCh38/hg38 22q11.22(chr22:21994545-22202310)x3	IGL, IGLV11-55 +16 more	Copy number gain	See cases	GBenign
Select item 3332136	NM_007128.4(VPREB1):c.13C>G (p.Pro5Ala)	IGL, VPREB1 (P5A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3188735	NM_007128.4(VPREB1):c.67C>G (p.Leu23Val)	IGL, VPREB1 (L23V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332135	NM_007128.4(VPREB1):c.80C>T (p.Pro27Leu)	IGL, VPREB1 (P26L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188731	NM_007128.4(VPREB1):c.160G>A (p.Val54Ile)	IGL, VPREB1 (V54I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531931	NM_007128.4(VPREB1):c.253C>T (p.Pro85Ser)	IGL, VPREB1 (P85S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358037	NM_007128.4(VPREB1):c.274G>A (p.Asp92Asn)	IGL, VPREB1 (D91N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205029	NM_007128.4(VPREB1):c.296A>T (p.Tyr99Phe)	IGL, VPREB1 (Y99F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188732	NM_007128.4(VPREB1):c.305T>A (p.Ile102Asn)	IGL, VPREB1 (I102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188733	NM_007128.4(VPREB1):c.355G>T (p.Ala119Ser)	IGL, VPREB1 (A118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470483	NM_007128.4(VPREB1):c.367G>C (p.Glu123Gln)	IGL, VPREB1 (E123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188734	NM_007128.4(VPREB1):c.388G>C (p.Glu130Gln)	IGL, VPREB1 (E130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379134	NM_007128.4(VPREB1):c.427C>T (p.Arg143Cys)	IGL, VPREB1 (R142C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145760	GRCh38/hg38 22q11.22(chr22:22374043-22886630)x1	GGTLC2, IGL +37 more	Copy number loss	See cases	GBenign
Select item 2372282	NM_080764.4(ZNF280B):c.1564G>C (p.Val522Leu)	IGL, ZNF280B (V522L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381056	NM_080764.4(ZNF280B):c.1396C>T (p.Arg466Trp)	IGL, ZNF280B (R466W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194863	NM_080764.4(ZNF280B):c.1345T>A (p.Cys449Ser)	IGL, ZNF280B (C449S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331279	NM_080764.4(ZNF280B):c.1333A>G (p.Thr445Ala)	IGL, ZNF280B (T445A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410594	NM_080764.4(ZNF280B):c.1192C>A (p.Pro398Thr)	IGL, ZNF280B (P398T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335355	NM_080764.4(ZNF280B):c.1086C>T (p.Ile362=)	IGL, ZNF280B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3194861	NM_080764.4(ZNF280B):c.1031C>G (p.Thr344Ser)	IGL, ZNF280B (T344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518718	NM_080764.4(ZNF280B):c.1021A>G (p.Asn341Asp)	IGL, ZNF280B (N341D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628004	NM_080764.4(ZNF280B):c.937G>A (p.Val313Met)	IGL, ZNF280B (V313M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2462514	NM_080764.4(ZNF280B):c.888A>T (p.Glu296Asp)	IGL, ZNF280B (E296D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267468	NM_080764.4(ZNF280B):c.754A>G (p.Asn252Asp)	IGL, ZNF280B (N252D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242458	NM_080764.4(ZNF280B):c.706C>T (p.Pro236Ser)	IGL, ZNF280B (P236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335354	NM_080764.4(ZNF280B):c.648T>A (p.Ser216Arg)	IGL, ZNF280B (S216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412018	NM_080764.4(ZNF280B):c.535G>A (p.Glu179Lys)	IGL, ZNF280B (E179K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345340	NM_080764.4(ZNF280B):c.533T>C (p.Phe178Ser)	IGL, ZNF280B (F178S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335353	NM_080764.4(ZNF280B):c.500A>G (p.Glu167Gly)	IGL, ZNF280B (E167G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258333	NM_080764.4(ZNF280B):c.470G>A (p.Ser157Asn)	IGL, ZNF280B (S157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397943	NM_080764.4(ZNF280B):c.440C>T (p.Thr147Ile)	IGL, ZNF280B (T147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535607	NM_080764.4(ZNF280B):c.406A>G (p.Asn136Asp)	IGL, ZNF280B (N136D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194864	NM_080764.4(ZNF280B):c.310G>T (p.Ala104Ser)	IGL, ZNF280B (A104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557319	NM_080764.4(ZNF280B):c.290A>G (p.Glu97Gly)	IGL, ZNF280B (E97G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194862	NM_080764.4(ZNF280B):c.110A>G (p.His37Arg)	IGL, ZNF280B (H37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194865	NM_080764.4(ZNF280B):c.68T>C (p.Val23Ala)	IGL, ZNF280B (V23A)	Single nucleotide variant (missense variant +1 more)	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 2236455	NM_080740.5(ZNF280A):c.1556C>T (p.Pro519Leu)	IGL, ZNF280A (P519L)	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 2535095	NM_080740.5(ZNF280A):c.1544C>T (p.Pro515Leu)	IGL, ZNF280A (P515L)	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 2318078	NM_080740.5(ZNF280A):c.1513A>T (p.Met505Leu)	IGL, ZNF280A (M505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3194854	NM_080740.5(ZNF280A):c.1376A>G (p.Gln459Arg)	IGL, ZNF280A (Q459R)	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 3194853	NM_080740.5(ZNF280A):c.1219G>A (p.Ala407Thr)	IGL, ZNF280A (A407T)	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 2411536	NM_080740.5(ZNF280A):c.1177C>G (p.Pro393Ala)	IGL, ZNF280A (P393A)	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 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 2208695	NM_080740.5(ZNF280A):c.1016G>A (p.Cys339Tyr)	IGL, ZNF280A (C339Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565307	NM_080740.5(ZNF280A):c.1011G>C (p.Gln337His)	IGL, ZNF280A (Q337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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