"Baylor Genetics"[submitter] AND "FOXP1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030052	NM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro)	FOXP1 (L454P +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 561014	NM_001349338.3(FOXP1):c.1653-2A>T	FOXP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic
Select item 521111	NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)	FOXP1 (R525Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1030051	NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln)	FOXP1 (R362Q +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 561013	NM_001349338.3(FOXP1):c.1291_1292del (p.Thr431fs)	FOXP1 (T331fs +4 more)	Microsatellite (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 689737	NM_001349338.3(FOXP1):c.844_845del (p.Val283fs)	FOXP1 (V183fs +4 more)	Microsatellite (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 2441808	NM_001349338.3(FOXP1):c.94C>A (p.Leu32Ile)	FOXP1 (L32I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance