Related gene-specific medical variations for Gene (Select 93986) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361872	NM_014491.4(FOXP2):c.217T>G (p.Leu73Val)	FOXP2 (L73V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361477	NM_014491.4(FOXP2):c.434A>G (p.Gln145Arg)	FOXP2 (Q145R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361301	NM_014491.4(FOXP2):c.1102A>C (p.Asn368His)	FOXP2 (N367H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361210	NM_014491.4(FOXP2):c.341C>T (p.Ser114Phe)	FOXP2 (S114F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360622	NM_014491.4(FOXP2):c.944C>T (p.Ser315Phe)	FOXP2 (S314F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360034	NM_014491.4(FOXP2):c.736C>T (p.Pro246Ser)	FOXP2 (P245S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689089	NM_014491.4(FOXP2):c.1794A>G (p.Ile598Met)	FOXP2 (I506M +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 2441551	NM_014491.4(FOXP2):c.693G>T (p.Gln231His)	FOXP2 (Q230H +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 2441550	NM_014491.4(FOXP2):c.361C>T (p.Leu121Phe)	FOXP2 (L121F +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 1527385	GRCh37/hg19 7q31.1(chr7:113925160-113932763)	FOXP2	Copy number loss	not specified	GUncertain significance
Select item 1287617	NM_014491.4(FOXP2):c.1647+46A>G	FOXP2, LOC110120810	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184418	NM_014491.4(FOXP2):c.258+15661C>T	FOXP2	Single nucleotide variant (intron variant)	Childhood apraxia of speech	GUncertain significance
Select item 1119989	NM_014491.4(FOXP2):c.1614del (p.Phe538fs)	FOXP2 (F537fs +3 more)	Deletion (frameshift variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119988	NM_014491.4(FOXP2):c.1607G>C (p.Arg536Pro)	FOXP2 (R535P +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119987	NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr)	FOXP2 (M405T +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119986	NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu)	FOXP2 (P504L +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1098630	NM_014491.4(FOXP2):c.2084A>C (p.His695Pro)	FOXP2 (H694P +3 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 992766	NM_014491.4(FOXP2):c.2039C>T (p.Ala680Val)	FOXP2 (A679V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988917	GRCh37/hg19 7q31.1(chr7:113923511-113933967)x1	FOXP2	Copy number loss	not provided	GUncertain significance
Select item 987351	NM_014491.4(FOXP2):c.1499del (p.Asn500fs)	FOXP2 (N499fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 987127	NM_014491.4(FOXP2):c.556C>T (p.Gln186Ter)	FOXP2 (Q186* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 986876	NM_014491.4(FOXP2):c.505C>T (p.Gln169Ter)	FOXP2 (Q169* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 986875	NM_014491.4(FOXP2):c.504G>T (p.Gln168His)	FOXP2 (Q168H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 975232	NM_014491.4(FOXP2):c.495A>T (p.Gln165His)	FOXP2 (Q165H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 932406	NM_014491.4(FOXP2):c.604C>T (p.Gln202Ter)	FOXP2 (Q201* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 688545	GRCh37/hg19 7q31.1(chr7:113921126-113932755)x1	FOXP2	Copy number loss	not provided	GUncertain significance
Select item 688096	GRCh37/hg19 7q31.1(chr7:113921126-113932755)x1	FOXP2	Copy number loss	not provided	GUncertain significance
Select item 686899	GRCh37/hg19 7q31.1(chr7:114215919-114280081)x3	FOXP2	Copy number gain	not provided	GUncertain significance
Select item 686394	GRCh37/hg19 7q31.1(chr7:113921126-113932755)x1	FOXP2	Copy number loss	not provided	GUncertain significance
Select item 563307	GRCh37/hg19 7q31.1(chr7:113593905-113735098)x1	FOXP2	Copy number loss	not provided	GLikely pathogenic
Select item 443462	GRCh37/hg19 7q31.1(chr7:114245646-114268329)x3	FOXP2	Copy number gain	See cases	GUncertain significance
Select item 443078	GRCh37/hg19 7q31.1(chr7:114311725-114343602)x3	FOXP2	Copy number gain	See cases	GUncertain significance
Select item 242973	Uniparental disomy of chromosome 7	FOXP2	Complex	Childhood apraxia of speech	GPathogenic
Select item 242971	7q22-q31.33, 22 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242970	7q22-q31.3 deletion (15 Mb)	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242969	7q31.2-q32, 26 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242968	7q31.2-q32, 15 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242967	7q31.2-q32, 14 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242966	7q31.2-q32, 13 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242965	NC_000007.12:g.112946520_114520576del	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242964	7q31.1-q31.3, 15 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242963	7q31.1-q31.3, 11 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242962	7q31.1-q31.3, 16 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242961	7q31.1-q31.2, 9.1 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242960	7q31.1-q31.2, 1.57 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242959	7q31.1-q31.3, 14.8 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242958	7q31.1-q31.2, 6.5 Mb deletion	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242957	NC_000007.12:g.111781517_120142536del	FOXP2	Deletion	Childhood apraxia of speech	GPathogenic
Select item 242955	t(7;13)(q31.1;q13.2)	RFC3, FOXP2	Translocation	Childhood apraxia of speech	GPathogenic
Select item 242954	t(5;7)(q22;q31.2)	FOXP2	Translocation	Childhood apraxia of speech	GPathogenic
Select item 242953	t(3;7)(q23;q31.2)	FOXP2	Translocation	Childhood apraxia of speech	GPathogenic
Select item 242949	NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs)	FOXP2 (Q390fs +3 more)	Deletion (frameshift variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 209968	GRCh37/hg19 7q31.1(chr7:113925160..113934427)x1	FOXP2	Copy number loss	Childhood apraxia of speech	GBenign

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Links from Gene

Items: 53