"Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Child - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95265	NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GBenign FDA Recognized database
Select item 167090	NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)	FOXG1	Microsatellite (inframe_insertion)	FOXG1 disorder	GLikely benign FDA Recognized database
Select item 95268	NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	FOXG1 (E154fs)	Duplication (frameshift variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 369885	NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile)	FOXG1 (S185I)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic

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