"PreventionGenetics, part of Exact Sciences"[submitter] AND "FOXP1"[ge - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029387	NM_001349338.3(FOXP1):c.1887C>T (p.Ala629=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 2629325	NM_001349338.3(FOXP1):c.1883A>G (p.Gln628Arg)	FOXP1 (Q527R +6 more)	Single nucleotide variant (missense variant +1 more)	FOXP1-related disorder	GUncertain significance
Select item 497696	NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr)	FOXP1 (A488T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 211041	NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser)	FOXP1 (N570S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 55847	NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)	FOXP1 (P568S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1879585	NM_001349338.3(FOXP1):c.1652+540G>A	FOXP1 (A566T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 376816	NM_001349338.3(FOXP1):c.1652+403A>G	FOXP1 (H520R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3044278	NM_001349338.3(FOXP1):c.1652+380C>G	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 3056315	NM_001349338.3(FOXP1):c.1652+350_1652+367del	FOXP1	Deletion (intron variant)	FOXP1-related disorder	GLikely benign
Select item 217265	NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)	FOXP1 (R514C +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 748113	NM_001349338.3(FOXP1):c.1531-6C>T	FOXP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3051678	NM_001349338.3(FOXP1):c.1488A>T (p.Thr496=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 2632670	NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)	FOXP1, LOC126806714 (E379K +4 more)	Single nucleotide variant (missense variant +1 more)	FOXP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 733411	NM_001349338.3(FOXP1):c.1428+9A>G	FOXP1	Single nucleotide variant (intron variant)	FOXP1-related disorder +1 more	GBenign/Likely benign
Select item 211037	NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3061739	NM_001349338.3(FOXP1):c.1407A>G (p.Thr469=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 748104	NM_001349338.3(FOXP1):c.1333G>A (p.Val445Met)	FOXP1 (V345M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1805564	NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)	FOXP1 (L313fs +4 more)	Deletion (frameshift variant +1 more)	FOXP1-related disorder +2 more	GPathogenic
Select item 1927795	NM_001349338.3(FOXP1):c.1239C>G (p.Pro413=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 346645	NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2635630	NM_001349338.3(FOXP1):c.1168A>T (p.Thr390Ser)	FOXP1 (T289S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 756041	NM_001349338.3(FOXP1):c.1149G>A (p.Leu383=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 167095	NM_001349338.3(FOXP1):c.1146+10_1146+12del	FOXP1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2971553	NM_001349338.3(FOXP1):c.1063-5G>A	FOXP1	Single nucleotide variant (intron variant)	FOXP1-related disorder +1 more	GLikely benign
Select item 2636993	NM_001349338.3(FOXP1):c.870-2A>C	FOXP1	Single nucleotide variant (splice acceptor variant)	FOXP1-related disorder	GLikely pathogenic
Select item 435245	NM_001349338.3(FOXP1):c.855T>G (p.Thr285=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder +2 more	GBenign/Likely benign
Select item 3028945	NM_001349338.3(FOXP1):c.787G>C (p.Ala263Pro)	FOXP1 (A162P +4 more)	Single nucleotide variant (missense variant +1 more)	FOXP1-related disorder	GUncertain significance
Select item 129109	NM_001349338.3(FOXP1):c.643C>G (p.Pro215Ala)	FOXP1 (P215A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2159403	NM_001349338.3(FOXP1):c.301A>G (p.Met101Val)	FOXP1 (M101V +1 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more	GUncertain significance
Select item 2138821	NM_001349338.3(FOXP1):c.216G>A (p.Gln72=)	FOXP1	Single nucleotide variant (synonymous variant +2 more)	FOXP1-related disorder +1 more	GLikely benign
Select item 2631487	NM_001349338.3(FOXP1):c.181-17860G>C	FOXP1	Single nucleotide variant (intron variant +1 more)	FOXP1-related disorder	GUncertain significance
Select item 3052264	NM_001349338.3(FOXP1):c.181-17892G>A	FOXP1	Single nucleotide variant (5 prime UTR variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 3045160	NM_001349338.3(FOXP1):c.181-17966G>A	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 3033991	NM_001349338.3(FOXP1):c.181-17970A>G	FOXP1 (H26R)	Single nucleotide variant (missense variant +1 more)	FOXP1-related disorder	GBenign
Select item 3061436	NM_001349338.3(FOXP1):c.181-18007C>G	FOXP1 (H14D)	Single nucleotide variant (missense variant +1 more)	FOXP1-related disorder	GUncertain significance
Select item 3049664	NM_001349338.3(FOXP1):c.180+209T>C	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 2047740	NM_001349338.3(FOXP1):c.180+7G>T	FOXP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1699398	NM_001349338.3(FOXP1):c.159C>A (p.His53Gln)	FOXP1 (H53Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 589707	NM_001349338.3(FOXP1):c.123G>A (p.Thr41=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3061505	NM_001349338.3(FOXP1):c.90C>G (p.Gly30=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	FOXP1-related disorder	GLikely benign
Select item 737302	NM_001349338.3(FOXP1):c.79C>T (p.Leu27=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 211043	NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)	FOXP1 (A15V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 211036	NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)	FOXP1 (S5P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 43