"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379607	NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)	FOXG1 (E136*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 471470	NM_005249.5(FOXG1):c.506del (p.Gly169fs)	FOXG1 (G169fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 582307	NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe)	FOXG1 (L235F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 807603	NM_005249.5(FOXG1):c.777del (p.Ser260fs)	FOXG1 (S260fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GPathogenic
Select item 2584379	NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)	FOXG1 (G248D +1 more)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 807604	NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr)	FOXG1 (N408Y)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 189609	NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)	FOXG1 (Y416*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

ClinVar