LOC126862899[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 2542709	NM_001037232.4(ZNF829):c.1258C>T (p.Arg420Cys)	LOC126862899, ZNF345 +1 more (R420C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198658	NM_001037232.4(ZNF829):c.1161G>T (p.Lys387Asn)	LOC126862899, ZNF345 +1 more (K387N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649766	NM_001037232.4(ZNF829):c.1140T>C (p.Tyr380=)	LOC126862899, ZNF345 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306775	NM_001037232.4(ZNF829):c.1054T>A (p.Tyr352Asn)	LOC126862899, ZNF345 +1 more (Y352N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463697	NM_001037232.4(ZNF829):c.1025A>G (p.His342Arg)	LOC126862899, ZNF345 +1 more (H423R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411645	NM_001037232.4(ZNF829):c.993G>C (p.Lys331Asn)	LOC126862899, ZNF345 +1 more (K412N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385613	NM_001037232.4(ZNF829):c.839G>A (p.Ser280Asn)	LOC126862899, ZNF345 +1 more (S280N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198662	NM_001037232.4(ZNF829):c.754T>C (p.Cys252Arg)	LOC126862899, ZNF345 +1 more (C333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595998	NM_001037232.4(ZNF829):c.670A>G (p.Ser224Gly)	LOC126862899, ZNF345 +1 more (S224G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291616	NM_001037232.4(ZNF829):c.586G>C (p.Gly196Arg)	LOC126862899, ZNF345 +1 more (G196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382240	NM_001037232.4(ZNF829):c.584G>A (p.Arg195His)	LOC126862899, ZNF345 +1 more (R195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240909	NM_001037232.4(ZNF829):c.483T>G (p.Cys161Trp)	LOC126862899, ZNF345 +1 more (C161W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233149	NM_001037232.4(ZNF829):c.391C>T (p.Arg131Cys)	LOC126862899, ZNF345 +1 more (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance