ZNF189[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2590958	NM_003452.4(ZNF189):c.20C>T (p.Pro7Leu)	ZNF189 (P7L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277889	NM_003452.4(ZNF189):c.55G>A (p.Val19Met)	ZNF189 (V19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230671	NM_003452.4(ZNF189):c.110G>A (p.Ser37Asn)	ZNF189 (S23N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210478	NM_003452.4(ZNF189):c.182A>G (p.Asp61Gly)	LOC126860705, ZNF189 (D46G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549766	NM_003452.4(ZNF189):c.211G>A (p.Glu71Lys)	LOC126860705, ZNF189 (E29K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284759	NM_003452.4(ZNF189):c.219T>G (p.Ile73Met)	LOC126860705, ZNF189 (I31M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401995	NM_003452.4(ZNF189):c.248T>C (p.Ile83Thr)	LOC126860705, ZNF189 (I41T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194253	NM_003452.4(ZNF189):c.381G>C (p.Gln127His)	LOC126860705, ZNF189 (Q112H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324587	NM_003452.4(ZNF189):c.428C>T (p.Ser143Leu)	LOC126860705, ZNF189 (S129L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533598	NM_003452.4(ZNF189):c.431A>G (p.Glu144Gly)	LOC126860705, ZNF189 (E102G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194254	NM_003452.4(ZNF189):c.467G>T (p.Gly156Val)	LOC126860705, ZNF189 (G142V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491732	NM_003452.4(ZNF189):c.526T>C (p.Phe176Leu)	LOC126860705, ZNF189 (F134L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194255	NM_003452.4(ZNF189):c.559C>T (p.Arg187Cys)	LOC126860705, ZNF189 (R173C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345412	NM_003452.4(ZNF189):c.560G>A (p.Arg187His)	LOC126860705, ZNF189 (R145H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476535	NM_003452.4(ZNF189):c.568T>C (p.Phe190Leu)	LOC126860705, ZNF189 (F176L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530149	NM_003452.4(ZNF189):c.582T>G (p.His194Gln)	LOC126860705, ZNF189 (H152Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522725	NM_003452.4(ZNF189):c.632A>G (p.Lys211Arg)	LOC126860705, ZNF189 (K197R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255229	NM_003452.4(ZNF189):c.724A>C (p.Ser242Arg)	LOC126860705, ZNF189 (S228R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194256	NM_003452.4(ZNF189):c.848C>A (p.Thr283Asn)	LOC126860705, ZNF189 (T269N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278545	NM_003452.4(ZNF189):c.1145G>A (p.Ser382Asn)	ZNF189 (S367N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283516	NM_003452.4(ZNF189):c.1241G>C (p.Gly414Ala)	ZNF189 (G372A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194249	NM_003452.4(ZNF189):c.1247T>C (p.Ile416Thr)	ZNF189 (I401T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229739	NM_003452.4(ZNF189):c.1403G>A (p.Ser468Asn)	ZNF189 (S426N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301817	NM_003452.4(ZNF189):c.1462G>A (p.Val488Ile)	ZNF189 (V473I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217591	NM_003452.4(ZNF189):c.1484G>A (p.Arg495Gln)	ZNF189 (R495Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194250	NM_003452.4(ZNF189):c.1523G>C (p.Gly508Ala)	ZNF189 (G466A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207826	NM_003452.4(ZNF189):c.1651C>T (p.Arg551Trp)	ZNF189 (R551W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194251	NM_003452.4(ZNF189):c.1724A>G (p.Lys575Arg)	ZNF189 (K533R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394986	NM_003452.4(ZNF189):c.1765A>T (p.Ile589Phe)	ZNF189 (I574F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623262	NM_003452.4(ZNF189):c.1825A>G (p.Asn609Asp)	ZNF189 (N567D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194252	NM_003452.4(ZNF189):c.1844T>C (p.Ile615Thr)	ZNF189 (I601T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255678	NM_003452.4(ZNF189):c.1873A>T (p.Met625Leu)	ZNF189 (M610L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2422164	NC_000009.11:g.(?_104124710)_(104500261_?)del	ZNF189, ALDOB +6 more	Deletion	Hereditary fructosuria	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 979862	GRCh37/hg19 9q31.1(chr9:103872812-104974365)x3	GRIN3A, ALDOB +6 more	Copy number gain	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 69