C3150705[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705362	NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)	FOXG1 (Q100*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 1320101	NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs)	FOXG1 (A114fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 95268	NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	FOXG1 (E154fs)	Duplication (frameshift variant)	FOXG1 disorder	GPathogenic FDA Recognized database
Select item 1320045	NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp)	FOXG1 (N187D)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GPathogenic
Select item 1705296	NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)	FOXG1 (I190F)	Single nucleotide variant (missense variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 985267	NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)	FOXG1 (I207T)	Single nucleotide variant (missense variant)	FOXG1 disorder	GLikely pathogenic FDA Recognized database
Select item 1320201	NM_005249.5(FOXG1):c.844dup (p.Ala282fs)	FOXG1 (A282fs)	Duplication (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 503880	NM_005249.5(FOXG1):c.958del (p.Arg320fs)	FOXG1 (R320fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant +1 more	GPathogenic
Select item 1687562	NM_005249.5(FOXG1):c.1020del (p.Tyr341fs)	FOXG1 (Y341fs)	Deletion (frameshift variant)	Rett syndrome, congenital variant	GLikely pathogenic