ZNF19[gene] - ClinVar

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Items: 67

	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 2252028	NM_006961.4(ZNF19):c.1336C>A (p.Arg446Ser)	ZNF19 (R446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335081	NM_006961.4(ZNF19):c.1301T>A (p.Val434Asp)	ZNF19 (V434D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613496	NM_006961.4(ZNF19):c.1277C>T (p.Ser426Phe)	ZNF19 (S426F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194257	NM_006961.4(ZNF19):c.1178C>A (p.Ala393Asp)	ZNF19 (A393D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246385	NM_006961.4(ZNF19):c.971C>T (p.Thr324Ile)	ZNF19 (T324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358626	NM_006961.4(ZNF19):c.869G>A (p.Arg290Gln)	ZNF19 (R290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599519	NM_006961.4(ZNF19):c.809A>T (p.Glu270Val)	ZNF19 (E270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194261	NM_006961.4(ZNF19):c.766A>G (p.Ser256Gly)	ZNF19 (S256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561946	NM_006961.4(ZNF19):c.713T>C (p.Ile238Thr)	ZNF19 (I238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335078	NM_006961.4(ZNF19):c.646C>T (p.Pro216Ser)	ZNF19 (P216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389975	NM_006961.4(ZNF19):c.616C>T (p.Arg206Trp)	ZNF19 (R206W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370106	NM_006961.4(ZNF19):c.532A>G (p.Arg178Gly)	ZNF19 (R178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365175	NM_006961.4(ZNF19):c.500G>A (p.Gly167Glu)	ZNF19 (G167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298154	NM_006961.4(ZNF19):c.479C>G (p.Pro160Arg)	ZNF19 (P160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646799	NM_006961.4(ZNF19):c.474G>A (p.Arg158=)	ZNF19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3335079	NM_006961.4(ZNF19):c.466T>C (p.Cys156Arg)	ZNF19 (C156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306815	NM_006961.4(ZNF19):c.439A>T (p.Ile147Phe)	ZNF19 (I147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354786	NM_006961.4(ZNF19):c.436A>G (p.Asn146Asp)	ZNF19 (N146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194259	NM_006961.4(ZNF19):c.379A>G (p.Thr127Ala)	ZNF19 (T127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373255	NM_006961.4(ZNF19):c.352G>A (p.Gly118Ser)	ZNF19 (G118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335080	NM_006961.4(ZNF19):c.335A>G (p.Asp112Gly)	ZNF19 (D112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354082	NM_006961.4(ZNF19):c.331A>G (p.Arg111Gly)	ZNF19 (R111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302677	NM_006961.4(ZNF19):c.179C>A (p.Pro60His)	ZNF19 (P60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368374	NM_006961.4(ZNF19):c.49G>A (p.Glu17Lys)	ZNF19 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194258	NM_006961.4(ZNF19):c.29A>T (p.Tyr10Phe)	ZNF19 (Y10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +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	CYB5B, DDX19A +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: 67