ZNF830[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2458785	NM_052857.4(ZNF830):c.55G>A (p.Glu19Lys)	LOC130060706, ZNF830 (E19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359212	NM_052857.4(ZNF830):c.128C>T (p.Ala43Val)	LOC130060706, ZNF830 (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328236	NM_052857.4(ZNF830):c.151C>G (p.Leu51Val)	LOC130060706, ZNF830 (L51V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470810	NM_052857.4(ZNF830):c.178G>A (p.Val60Ile)	LOC130060706, ZNF830 (V60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251682	NM_052857.4(ZNF830):c.200A>C (p.Gln67Pro)	LOC130060706, ZNF830 (Q67P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492938	NM_052857.4(ZNF830):c.239C>T (p.Ala80Val)	LOC130060706, ZNF830 (A80V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619394	NM_052857.4(ZNF830):c.301G>A (p.Val101Ile)	ZNF830 (V101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538297	NM_052857.4(ZNF830):c.342G>C (p.Lys114Asn)	ZNF830 (K114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316663	NM_052857.4(ZNF830):c.524G>C (p.Arg175Thr)	CCT6B, ZNF830 (R175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599893	NM_052857.4(ZNF830):c.533G>A (p.Gly178Glu)	ZNF830 (G178E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619223	NM_052857.4(ZNF830):c.569A>G (p.Lys190Arg)	ZNF830 (K190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624016	NM_052857.4(ZNF830):c.578C>T (p.Ser193Leu)	ZNF830 (S193L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208315	NM_052857.4(ZNF830):c.597G>C (p.Glu199Asp)	CCT6B, ZNF830 (E199D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457451	NM_052857.4(ZNF830):c.619A>G (p.Asn207Asp)	ZNF830 (N207D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2473509	NM_052857.4(ZNF830):c.670G>C (p.Gly224Arg)	ZNF830 (G224R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208304	NM_052857.4(ZNF830):c.685G>A (p.Ala229Thr)	ZNF830, CCT6B (A229T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380717	NM_052857.4(ZNF830):c.728C>G (p.Ala243Gly)	CCT6B, ZNF830 (A243G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409328	NM_052857.4(ZNF830):c.811G>A (p.Asp271Asn)	CCT6B, ZNF830 (D271N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367466	NM_052857.4(ZNF830):c.1000G>A (p.Glu334Lys)	CCT6B, ZNF830 (E334K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564430	GRCh37/hg19 17q12(chr17:32654402-33353332)x3	CCL1, CCL13 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 27