C4013764[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 18428	NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter)	FOXP1 (R525* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 211040	NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)	FOXP1 (R514H +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 217265	NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)	FOXP1 (R514C +4 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more	GPathogenic
Select item 418219	NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)	FOXP1 (L313fs +4 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 691271	NM_001349338.3(FOXP1):c.1146+1G>A	FOXP1	Single nucleotide variant (splice donor variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic
Select item 1701967	NM_001349338.3(FOXP1):c.494del (p.Gly165fs)	FOXP1 (G164fs +3 more)	Deletion (frameshift variant +2 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic

ClinVar