"ZNF711-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438692	NM_001330574.2(ZNF711):c.416G>A (p.Gly139Glu)	ZNF711 (G139E)	Single nucleotide variant (missense variant)	ZNF711-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3045948	NM_001330574.2(ZNF711):c.1055-7_1055-3dup	ZNF711	Duplication (intron variant)	ZNF711-related disorder	GLikely benign
Select item 3033070	NM_001330574.2(ZNF711):c.1574A>C (p.Lys525Thr)	ZNF711 (K479T +1 more)	Single nucleotide variant (missense variant)	ZNF711-related disorder	GUncertain significance
Select item 368746	NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=)	ZNF711	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3054392	NM_001330574.2(ZNF711):c.2234C>T (p.Thr745Ile)	ZNF711 (T699I +1 more)	Single nucleotide variant (missense variant)	ZNF711-related disorder	GLikely benign

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