ZNF589[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57728	GRCh38/hg38 3p21.31(chr3:47867990-48259991)x3	CAMP, CDC25A +19 more	Copy number gain	See cases	GUncertain significance
Select item 3059438	NM_016089.3(ZNF589):c.34A>G (p.Thr12Ala)	LOC112935945, ZNF589 (T12A)	Single nucleotide variant (missense variant)	ZNF589-related disorder	GBenign
Select item 728323	NM_016089.3(ZNF589):c.96+9G>A	ZNF589	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2590781	NM_016089.3(ZNF589):c.100C>A (p.Pro34Thr)	ZNF589 (P34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231139	NM_016089.3(ZNF589):c.134C>T (p.Thr45Ile)	ZNF589 (T45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748395	NM_016089.3(ZNF589):c.211C>T (p.Leu71=)	ZNF589	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196994	NM_016089.3(ZNF589):c.260G>A (p.Cys87Tyr)	ZNF589 (C87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196995	NM_016089.3(ZNF589):c.261C>G (p.Cys87Trp)	ZNF589 (C87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196996	NM_016089.3(ZNF589):c.427G>A (p.Glu143Lys)	ZNF589 (E143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545980	NM_016089.3(ZNF589):c.437G>T (p.Arg146Leu)	ZNF589 (R146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196997	NM_016089.3(ZNF589):c.451G>A (p.Val151Ile)	ZNF589 (V151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196998	NM_016089.3(ZNF589):c.472A>T (p.Thr158Ser)	ZNF589 (T158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485389	NM_016089.3(ZNF589):c.539G>T (p.Gly180Val)	ZNF589 (G180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481407	NM_016089.3(ZNF589):c.619G>A (p.Ala207Thr)	ZNF589 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059949	NM_016089.3(ZNF589):c.647C>G (p.Thr216Arg)	ZNF589 (T216R)	Single nucleotide variant (missense variant)	ZNF589-related disorder	GBenign
Select item 2374901	NM_016089.3(ZNF589):c.657G>C (p.Glu219Asp)	ZNF589 (E219D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791241	NM_016089.3(ZNF589):c.763C>T (p.Arg255Ter)	ZNF589 (R255*)	Single nucleotide variant (nonsense)	ZNF589-related disorder +1 more	GLikely benign
Select item 2358295	NM_016089.3(ZNF589):c.824C>T (p.Pro275Leu)	ZNF589 (P275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196999	NM_016089.3(ZNF589):c.835G>A (p.Gly279Arg)	ZNF589 (G279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045016	NM_016089.3(ZNF589):c.874C>T (p.Arg292Cys)	ZNF589 (R292C)	Single nucleotide variant (missense variant)	ZNF589-related disorder	GLikely benign
Select item 3196993	NM_016089.3(ZNF589):c.1025G>A (p.Arg342His)	ZNF589 (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748928	NM_016089.3(ZNF589):c.1061A>C (p.His354Pro)	ZNF589 (H354P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2274681	NM_016089.3(ZNF589):c.1064C>A (p.Thr355Lys)	ZNF589 (T355K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685919	GRCh37/hg19 3p21.31(chr3:48115216-48391839)x3	CAMP, CDC25A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 687533	GRCh37/hg19 3p21.31(chr3:47799614-48359988)x3	CAMP, CDC25A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 33