ZNF23[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 2347040	NM_001381984.1(ZNF23):c.1898G>A (p.Cys633Tyr)	ZNF23 (C532Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605935	NM_001381984.1(ZNF23):c.1882G>A (p.Glu628Lys)	ZNF23 (E585K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318173	NM_001381984.1(ZNF23):c.1858C>T (p.Arg620Trp)	ZNF23 (R577W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335214	NM_001381984.1(ZNF23):c.1793C>T (p.Thr598Ile)	ZNF23 (T593I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539404	NM_001381984.1(ZNF23):c.1769A>C (p.Tyr590Ser)	ZNF23 (Y586S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549403	NM_001381984.1(ZNF23):c.1742A>C (p.Glu581Ala)	ZNF23 (E538A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335211	NM_001381984.1(ZNF23):c.1724T>G (p.Phe575Cys)	ZNF23 (F532C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270355	NM_001381984.1(ZNF23):c.1661A>G (p.Lys554Arg)	ZNF23 (K549R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194556	NM_001381984.1(ZNF23):c.1616G>A (p.Arg539Gln)	ZNF23 (R500Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529818	NM_001381984.1(ZNF23):c.1603C>G (p.Leu535Val)	ZNF23 (L434V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568568	NM_001381984.1(ZNF23):c.1571G>A (p.Cys524Tyr)	ZNF23 (C485Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521286	NM_001381984.1(ZNF23):c.1544G>C (p.Gly515Ala)	ZNF23 (G414A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335212	NM_001381984.1(ZNF23):c.1541C>G (p.Thr514Ser)	ZNF23 (T510S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194555	NM_001381984.1(ZNF23):c.1523G>A (p.Arg508Gln)	ZNF23 (R407Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590804	NM_001381984.1(ZNF23):c.1522C>T (p.Arg508Trp)	ZNF23 (R465W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521285	NM_001381984.1(ZNF23):c.1520T>C (p.Met507Thr)	ZNF23 (M465T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262193	NM_001381984.1(ZNF23):c.1493A>G (p.Lys498Arg)	ZNF23 (K455R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194554	NM_001381984.1(ZNF23):c.1421G>A (p.Cys474Tyr)	ZNF23 (C432Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306654	NM_001381984.1(ZNF23):c.1220A>G (p.Tyr407Cys)	ZNF23 (Y368C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335213	NM_001381984.1(ZNF23):c.1210G>C (p.Glu404Gln)	ZNF23 (E365Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247980	NM_001381984.1(ZNF23):c.1160G>C (p.Gly387Ala)	ZNF23 (G286A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319650	NM_001381984.1(ZNF23):c.1035C>G (p.His345Gln)	ZNF23 (H306Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382019	NM_001381984.1(ZNF23):c.953C>T (p.Thr318Met)	ZNF23 (T217M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401177	NM_001381984.1(ZNF23):c.913A>G (p.Ser305Gly)	ZNF23 (S263G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475991	NM_001381984.1(ZNF23):c.785G>A (p.Ser262Asn)	ZNF23 (S219N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470563	NM_001381984.1(ZNF23):c.698A>C (p.Asn233Thr)	ZNF23 (N190T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542918	NM_001381984.1(ZNF23):c.584A>G (p.Asp195Gly)	ZNF23 (D156G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194558	NM_001381984.1(ZNF23):c.474C>A (p.Ser158Arg)	ZNF23 (S116R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478891	NM_001381984.1(ZNF23):c.379T>C (p.Ser127Pro)	ZNF23 (S122P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492276	NM_001381984.1(ZNF23):c.301G>A (p.Glu101Lys)	ZNF23 (E101K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194557	NM_001381984.1(ZNF23):c.287A>G (p.Asn96Ser)	ZNF23 (N91S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287039	NM_001381984.1(ZNF23):c.224C>T (p.Ser75Leu)	ZNF23 (S75L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	AARS1, AP1G1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684814	GRCh37/hg19 16q22.2(chr16:70823633-71541641)x3	CALB2, CMTR2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815826	GRCh37/hg19 16q22.2(chr16:71391112-71591834)x1	ZNF23, CHST4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687301	GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3	CALB2, CHST4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221525	GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1	AP1G1, ATXN1L +14 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 74