"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207798	NM_015100.4(POGZ):c.3041del (p.Gln1014fs)	POGZ (Q1014fs +4 more)	Deletion (frameshift variant)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 978915	NM_015100.4(POGZ):c.2574del (p.His858fs)	POGZ (H763fs +4 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978916	NM_015100.4(POGZ):c.2469del (p.Thr824fs)	POGZ (T729fs +4 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978967	NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs)	POGZ (K706fs +4 more)	Indel (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978914	NM_015100.4(POGZ):c.2400dup (p.Lys801fs)	POGZ (K706fs +4 more)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978964	NM_015100.4(POGZ):c.2345del (p.Cys782fs)	POGZ (C687fs +4 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978966	NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)	POGZ (Y675* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 978963	NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs)	POGZ (R645fs +4 more)	Microsatellite (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 978965	NM_015100.4(POGZ):c.1079-20A>G	POGZ	Single nucleotide variant (intron variant)	Intellectual disability	GPathogenic