"Genetic Services Laboratory, University of Chicago"[submitter] AND "Z - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130847	NM_001330574.2(ZNF711):c.-286+5C>T	ZNF711	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 97	GBenign
Select item 130849	NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del)	ZNF711 (V43del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 212691	NM_001330574.2(ZNF711):c.320A>G (p.Asp107Gly)	ZNF711 (D107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212692	NM_001330574.2(ZNF711):c.579T>G (p.Asp193Glu)	ZNF711 (D193E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 130851	NM_001330574.2(ZNF711):c.798A>G (p.Thr266=)	ZNF711	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 212693	NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr)	ZNF711 (A277T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 368745	NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile)	ZNF711 (M410I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 97 +2 more	GBenign/Likely benign
Select item 130850	NM_001330574.2(ZNF711):c.1464C>T (p.Val488=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 437392	NM_001330574.2(ZNF711):c.1630G>A (p.Val544Ile)	ZNF711 (V498I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212690	NM_001330574.2(ZNF711):c.1838G>T (p.Cys613Phe)	ZNF711 (C567F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance