ClinVar for Gene (Select 93986) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369394	NM_014491.4(FOXP2):c.1204C>T (p.Leu402Phe)	FOXP2 (L401F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369318	NM_014491.4(FOXP2):c.942T>A (p.His314Gln)	FOXP2 (H313Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365189	NM_014491.4(FOXP2):c.1772G>T (p.Ser591Ile)	FOXP2 (S499I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3361389	NM_014491.4(FOXP2):c.1579C>T (p.Leu527Phe)	FOXP2 (L435F +4 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 3360616	NM_014491.4(FOXP2):c.1762A>G (p.Ile588Val)	FOXP2 (I496V +4 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 3348847	NM_014491.4(FOXP2):c.1122_1128dup (p.Ser377Ter)	FOXP2 (S376* +3 more)	Duplication (nonsense +1 more)	FOXP2-related disorder	GPathogenic
Select item 3348494	NM_014491.4(FOXP2):c.1913T>C (p.Leu638Pro)	FOXP2 (L546P +4 more)	Single nucleotide variant (missense variant +1 more)	FOXP2-related disorder	GUncertain significance
Select item 3343717	NM_014491.4(FOXP2):c.1796C>T (p.Pro599Leu)	FOXP2 (P507L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342847	NM_014491.4(FOXP2):c.1599G>A (p.Trp533Ter)	FOXP2 (W441* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3339821	NM_014491.4(FOXP2):c.956G>A (p.Gly319Glu)	FOXP2 (G318E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338535	NM_014491.4(FOXP2):c.1234C>T (p.Arg412Ter)	FOXP2 (R411* +3 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 3336616	NM_014491.4(FOXP2):c.775+1G>C	FOXP2	Single nucleotide variant (splice donor variant)	Childhood apraxia of speech	GPathogenic
Select item 3279662	NM_014491.4(FOXP2):c.1531A>G (p.Thr511Ala)	FOXP2 (T510A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279661	NM_014491.4(FOXP2):c.1114G>T (p.Ala372Ser)	FOXP2 (A371S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279660	NM_014491.4(FOXP2):c.124T>A (p.Ser42Thr)	FOXP2 (S42T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257357	NM_014491.4(FOXP2):c.775+1G>A	FOXP2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3257307	NM_014491.4(FOXP2):c.168+4A>T	FOXP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3254775	NM_014491.4(FOXP2):c.1418G>A (p.Gly473Glu)	FOXP2 (G381E +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 3096565	NM_014491.4(FOXP2):c.641A>G (p.Gln214Arg)	FOXP2 (Q213R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096564	NM_014491.4(FOXP2):c.259G>T (p.Val87Leu)	FOXP2 (V87L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096563	NM_014491.4(FOXP2):c.1373C>T (p.Thr458Ile)	FOXP2 (T366I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3096562	NM_014491.4(FOXP2):c.106T>C (p.Ser36Pro)	FOXP2 (S36P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3045396	NM_014491.4(FOXP2):c.1731A>G (p.Glu577=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	FOXP2-related disorder	GLikely benign
Select item 3039580	NM_014491.4(FOXP2):c.2003+9G>A	FOXP2	Single nucleotide variant (intron variant)	FOXP2-related disorder	GLikely benign
Select item 3035096	NM_014491.4(FOXP2):c.504G>A (p.Gln168=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	FOXP2-related disorder	GLikely benign
Select item 3033877	NM_014491.4(FOXP2):c.591G>T (p.Ala197=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	FOXP2-related disorder	GLikely benign
Select item 3029723	NM_014491.4(FOXP2):c.1648-9C>T	FOXP2	Single nucleotide variant (intron variant)	FOXP2-related disorder	GLikely benign
Select item 3029576	NM_014491.4(FOXP2):c.1304T>C (p.Met435Thr)	FOXP2 (M343T +4 more)	Single nucleotide variant (missense variant +1 more)	FOXP2-related disorder	GUncertain significance
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2832281	NM_014491.4(FOXP2):c.1547C>A (p.Ala516Asp)	FOXP2 (A515D +4 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 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2657956	NM_014491.4(FOXP2):c.2043G>A (p.Glu681=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657955	NM_014491.4(FOXP2):c.1357C>T (p.Pro453Ser)	FOXP2 (P453S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2657954	NM_014491.4(FOXP2):c.989+3A>G	FOXP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2657953	NM_014491.4(FOXP2):c.866T>C (p.Leu289Pro)	FOXP2 (L288P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2657952	NM_014491.4(FOXP2):c.397-179C>T	FOXP2 (A144V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2657951	NM_014491.4(FOXP2):c.343C>T (p.Pro115Ser)	FOXP2 (P115S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637239	NM_014491.4(FOXP2):c.998A>G (p.His333Arg)	FOXP2 (H332R +3 more)	Single nucleotide variant (missense variant +1 more)	FOXP2-related disorder	GUncertain significance
Select item 2633283	NM_014491.4(FOXP2):c.958C>T (p.Gln320Ter)	FOXP2 (Q319* +3 more)	Single nucleotide variant (nonsense +1 more)	FOXP2-related disorder	GLikely pathogenic
Select item 2632258	NM_014491.4(FOXP2):c.928C>T (p.Pro310Ser)	FOXP2 (P309S +3 more)	Single nucleotide variant (missense variant +1 more)	FOXP2-related disorder +1 more	GUncertain significance
Select item 2631962	NM_014491.4(FOXP2):c.1748G>A (p.Arg583Gln)	FOXP2 (R491Q +4 more)	Single nucleotide variant (missense variant +1 more)	FOXP2-related disorder	GUncertain significance
Select item 2631646	NM_014491.4(FOXP2):c.258+36151T>G	FOXP2 (D103E)	Single nucleotide variant (missense variant +2 more)	FOXP2-related disorder	GUncertain significance
Select item 2631288	NM_014491.4(FOXP2):c.1484_1485del (p.Asn494_Tyr495insTer)	FOXP2	Deletion (nonsense +2 more)	FOXP2-related disorder	GLikely pathogenic
Select item 2628750	NM_014491.4(FOXP2):c.1927G>A (p.Glu643Lys)	FOXP2 (E551K +4 more)	Single nucleotide variant (missense variant +1 more)	FOXP2-related disorder	GUncertain significance
Select item 2627230	NM_014491.4(FOXP2):c.2066T>C (p.Leu689Ser)	FOXP2 (L597S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581390	NM_014491.4(FOXP2):c.1701T>C (p.Asn567=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2579368	NM_014491.4(FOXP2):c.871C>T (p.Leu291Phe)	FOXP2 (L290F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579028	NM_014491.4(FOXP2):c.1266+34C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2576916	NM_014491.4(FOXP2):c.734C>T (p.Pro245Leu)	FOXP2 (P244L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575757	NM_014491.4(FOXP2):c.2135A>C (p.Glu712Ala)	FOXP2 (E620A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575706	NM_014491.4(FOXP2):c.1334A>T (p.Gln445Leu)	FOXP2 (Q353L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572262	NM_014491.4(FOXP2):c.1545+5G>A	FOXP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2571955	NM_014491.4(FOXP2):c.373C>T (p.Gln125Ter)	FOXP2 (Q125* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2571295	NM_014491.4(FOXP2):c.351G>C (p.Gln117His)	FOXP2 (Q117H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2570655	NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)	FOXP2 (W481* +4 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 2557045	NM_014491.4(FOXP2):c.1459A>G (p.Met487Val)	FOXP2 (M487V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2549663	NM_014491.4(FOXP2):c.1139A>T (p.Gln380Leu)	FOXP2 (Q379L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514799	NM_014491.4(FOXP2):c.660G>C (p.Gln220His)	FOXP2 (Q220H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505699	NM_014491.4(FOXP2):c.1183-4A>G	FOXP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2502819	NM_014491.4(FOXP2):c.295A>T (p.Ile99Phe)	FOXP2 (I124F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502632	NM_014491.4(FOXP2):c.1144C>T (p.Arg382Ter)	FOXP2 (R381* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2499242	NM_014491.4(FOXP2):c.956_964delinsATG (p.Gly319_Ser322delinsAspAla)	FOXP2	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2499054	NM_014491.4(FOXP2):c.1246C>A (p.Pro416Thr)	FOXP2 (P415T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2446665	NM_014491.4(FOXP2):c.943T>G (p.Ser315Ala)	FOXP2 (S314A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446500	NM_014491.4(FOXP2):c.1768G>A (p.Gly590Arg)	FOXP2 (G498R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442784	NM_014491.4(FOXP2):c.343C>G (p.Pro115Ala)	FOXP2 (P115A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441553	NM_014491.4(FOXP2):c.1657C>T (p.Arg553Cys)	FOXP2 (R461C +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 2441552	NM_014491.4(FOXP2):c.1276G>T (p.Val426Leu)	FOXP2 (V334L +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech +1 more	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 2431182	NM_014491.4(FOXP2):c.1164G>T (p.Val388=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431159	NM_014491.4(FOXP2):c.2003+2748G>A	FOXP2	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431131	NM_014491.4(FOXP2):c.2003+1336G>C	FOXP2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431130	NM_014491.4(FOXP2):c.2003+4074C>A	FOXP2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2403206	NM_014491.4(FOXP2):c.898A>G (p.Thr300Ala)	FOXP2 (T325A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269641	NM_014491.4(FOXP2):c.1127_1128insT (p.Ser377fs)	FOXP2 (S376fs +3 more)	Insertion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2024136	NM_014491.4(FOXP2):c.367C>T (p.Gln123Ter)	FOXP2 (Q123* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1809622	NM_014491.4(FOXP2):c.1436A>T (p.His479Leu)	FOXP2 (H387L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1797272	NM_014491.4(FOXP2):c.288C>T (p.Pro96=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1787578	NM_014491.4(FOXP2):c.21A>G (p.Thr7=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1784100	NM_014491.4(FOXP2):c.1998G>C (p.Pro666=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1782172	NM_014491.4(FOXP2):c.1005G>A (p.Glu335=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1779777	NM_014491.4(FOXP2):c.1770-5_1770-4dup	FOXP2	Duplication (intron variant)	Inborn genetic diseases	GBenign
Select item 1775021	NM_014491.4(FOXP2):c.154C>T (p.Leu52=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1765412	NM_014491.4(FOXP2):c.89G>A (p.Gly30Asp)	FOXP2 (G30D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1762709	NM_014491.4(FOXP2):c.125C>G (p.Ser42Cys)	FOXP2 (S42C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1748971	NM_014491.4(FOXP2):c.567_575dup (p.Gln191_His192insGlnGlnGln)	FOXP2	Duplication (inframe_insertion +1 more)	Inborn genetic diseases	GLikely benign
Select item 1747854	NM_014491.4(FOXP2):c.537GCA[6] (p.Gln191_His192insGln)	FOXP2	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases	GLikely benign
Select item 1746763	NM_014491.4(FOXP2):c.519ACAACAGCAGCA[1] (p.Gln188_Gln191del)	FOXP2	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GLikely benign
Select item 1746425	NM_014491.4(FOXP2):c.525G>A (p.Gln175=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1744760	NM_014491.4(FOXP2):c.501_515del (p.Gln187_Gln191del)	FOXP2	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GLikely benign
Select item 1744328	NM_014491.4(FOXP2):c.483ACAACAGCAGCA[1] (p.Gln188_Gln191del)	FOXP2	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GLikely benign
Select item 1742966	NM_014491.4(FOXP2):c.477_534delinsACAACAGCAGCAGCAACAACAACAACAACAACAGCAGCAG (p.Gln186_Gln191del)	FOXP2	Indel (inframe_deletion +1 more)	Inborn genetic diseases	GLikely benign

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