"GeneDx"[submitter] AND "FOXP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 346639	NM_001349338.3(FOXP1):c.*56dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GBenign
Select item 284392	NM_001349338.3(FOXP1):c.2020G>A (p.Glu674Lys)	FOXP1 (E674K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1326644	NM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val)	FOXP1 (A554V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1708852	NM_001349338.3(FOXP1):c.1963G>A (p.Ala655Thr)	FOXP1 (A554T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2064869	NM_001349338.3(FOXP1):c.1961C>T (p.Thr654Ile)	FOXP1 (T670I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2580472	NM_001349338.3(FOXP1):c.1956_1958del (p.Thr654del)	FOXP1 (T553del +5 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1315544	NM_001349338.3(FOXP1):c.1949C>A (p.Ser650Tyr)	FOXP1 (S549Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299616	NM_001349338.3(FOXP1):c.1891C>T (p.His631Tyr)	FOXP1 (H530Y +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GUncertain significance
Select item 129108	NM_001349338.3(FOXP1):c.1890-5T>C	FOXP1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1282214	NM_001349338.3(FOXP1):c.1890-15G>T	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198473	NM_001349338.3(FOXP1):c.1890-137G>A	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291845	NM_001349338.3(FOXP1):c.1889+205A>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252491	NM_001349338.3(FOXP1):c.1889+149A>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 96228	NM_001349338.3(FOXP1):c.1889+20C>A	FOXP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 504412	NM_001349338.3(FOXP1):c.1889+5G>T	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 489211	NM_001349338.3(FOXP1):c.1889+1G>T	FOXP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2330832	NM_001349338.3(FOXP1):c.1872A>T (p.Arg624Ser)	FOXP1 (R548S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1308096	NM_001349338.3(FOXP1):c.1849G>A (p.Glu617Lys)	FOXP1 (E516K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 588674	NM_001349338.3(FOXP1):c.1825G>A (p.Ala609Thr)	FOXP1 (A609T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2578247	NM_001349338.3(FOXP1):c.1822G>C (p.Gly608Arg)	FOXP1 (G507R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252141	NM_001349338.3(FOXP1):c.1772G>C (p.Gly591Ala)	FOXP1 (G490A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1219385	NM_001349338.3(FOXP1):c.1768A>G (p.Met590Val)	FOXP1 (M489V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1320622	NM_001349338.3(FOXP1):c.1764T>C (p.Ala588=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 497696	NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr)	FOXP1 (A488T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1204058	NM_001349338.3(FOXP1):c.1722+179C>T	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226490	NM_001349338.3(FOXP1):c.1722+137A>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196059	NM_001349338.3(FOXP1):c.1722+63A>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504464	NM_001349338.3(FOXP1):c.1717_1722+5del	FOXP1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1321547	NM_001349338.3(FOXP1):c.1722G>C (p.Gln574His)	FOXP1 (Q473H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 211041	NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser)	FOXP1 (N570S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 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 +2 more	GBenign/Likely benign
Select item 3340548	NM_001349338.3(FOXP1):c.1661C>T (p.Ser554Phe)	FOXP1 (S453F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1328821	NM_001349338.3(FOXP1):c.1653-3C>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1187899	NM_001349338.3(FOXP1):c.1652+839C>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274227	NM_001349338.3(FOXP1):c.1652+806A>C	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 376816	NM_001349338.3(FOXP1):c.1652+403A>G	FOXP1 (H520R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 194897	NM_001349338.3(FOXP1):c.1652+5G>A	FOXP1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 346643	NM_001349338.3(FOXP1):c.1641A>G (p.Gln547=)	FOXP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2505993	NM_001349338.3(FOXP1):c.1635G>A (p.Arg545=)	FOXP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 986000	NM_001349338.3(FOXP1):c.1631G>A (p.Arg544Gln)	FOXP1 (R443Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2012323	NM_001349338.3(FOXP1):c.1604C>T (p.Thr535Ile)	FOXP1 (T459I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic
Select item 280654	NM_001349338.3(FOXP1):c.1544_1569dup (p.Val524fs)	FOXP1 (V448fs +4 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 451303	NM_001349338.3(FOXP1):c.1561A>G (p.Lys521Glu)	FOXP1 (K521E +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 522138	NM_001349338.3(FOXP1):c.1538T>C (p.Val513Ala)	FOXP1 (V513A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1268961	NM_001349338.3(FOXP1):c.1530+157G>A	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242031	NM_001349338.3(FOXP1):c.1530+45A>G	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2866446	NM_001349338.3(FOXP1):c.1525T>C (p.Trp509Arg)	FOXP1, LOC126806714 (W408R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314375	NM_001349338.3(FOXP1):c.1523C>T (p.Thr508Met)	LOC126806714, FOXP1 (T407M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 211038	NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)	FOXP1, LOC126806714 (R503* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic
Select item 391588	NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu)	FOXP1, LOC126806714 (F502L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1305949	NM_001349338.3(FOXP1):c.1490G>A (p.Arg497Gln)	FOXP1, LOC126806714 (R396Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 379850	NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter)	FOXP1, LOC126806714 (R497* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1308587	NM_001349338.3(FOXP1):c.1482G>C (p.Trp494Cys)	FOXP1, LOC126806714 (W393C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620514	NM_001349338.3(FOXP1):c.1476T>A (p.Tyr492Ter)	FOXP1, LOC126806714 (Y492* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 976000	NM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys)	FOXP1, LOC126806714 (Y391C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817189	NM_001349338.3(FOXP1):c.1429_1442dup (p.Glu483fs)	FOXP1, LOC126806714 (E483fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1195738	NM_001349338.3(FOXP1):c.1429-70C>T	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190329	NM_001349338.3(FOXP1):c.1428+173A>G	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283362	NM_001349338.3(FOXP1):c.1428+90G>C	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065605	NM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter)	FOXP1 (Q375* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 211037	NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 280463	NM_001349338.3(FOXP1):c.1409A>G (p.Tyr470Cys)	FOXP1 (Y470C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2662824	NM_001349338.3(FOXP1):c.1365C>G (p.Asn455Lys)	FOXP1 (N354K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318459	NM_001349338.3(FOXP1):c.1359G>A (p.Ala453=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1210634	NM_001349338.3(FOXP1):c.1355T>C (p.Ile452Thr)	FOXP1 (I351T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451160	NM_001349338.3(FOXP1):c.1348G>A (p.Ala450Thr)	FOXP1 (A450T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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	GBenign
Select item 502549	NM_001349338.3(FOXP1):c.1329C>A (p.Tyr443Ter)	FOXP1 (Y443* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic
Select item 419546	NM_001349338.3(FOXP1):c.1329C>G (p.Tyr443Ter)	FOXP1 (Y443* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 817339	NM_001349338.3(FOXP1):c.1314_1321del (p.Tyr439fs)	FOXP1 (Y338fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely 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 1303872	NM_001349338.3(FOXP1):c.1297G>A (p.Gly433Arg)	FOXP1 (G332R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312316	NM_001349338.3(FOXP1):c.1239_1265dup (p.Leu414_Ser422dup)	FOXP1	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 424328	NM_001349338.3(FOXP1):c.1265_1266del (p.Ser422fs)	FOXP1 (S346fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2507252	NM_001349338.3(FOXP1):c.1264T>C (p.Ser422Pro)	FOXP1 (S321P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372028	NM_001349338.3(FOXP1):c.1239_1241del (p.Leu414del)	FOXP1 (L313del +4 more)	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 1805564	NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)	FOXP1 (L313fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 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 194567	NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs)	FOXP1 (L414fs +4 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1305023	NM_001349338.3(FOXP1):c.1237C>G (p.Pro413Ala)	FOXP1 (P312A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 346645	NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 346646	NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)	FOXP1 (T406S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 489016	NM_001349338.3(FOXP1):c.1177A>T (p.Lys393Ter)	FOXP1 (K393* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2132313	NM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys)	FOXP1 (S388C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1180354	NM_001349338.3(FOXP1):c.1146+151T>C	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 167095	NM_001349338.3(FOXP1):c.1146+10_1146+12del	FOXP1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 449635	NM_001349338.3(FOXP1):c.1146+5G>C	FOXP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2413071	NM_001349338.3(FOXP1):c.1127C>T (p.Pro376Leu)	FOXP1 (P275L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663243	NM_001349338.3(FOXP1):c.1095G>T (p.Met365Ile)	FOXP1 (M264I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503998	NM_001349338.3(FOXP1):c.1071del (p.Asp358fs)	FOXP1 (D258fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1314843	NM_001349338.3(FOXP1):c.1067C>T (p.Ala356Val)	FOXP1 (A255V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 421700	NM_001349338.3(FOXP1):c.1064T>C (p.Leu355Pro)	FOXP1 (L355P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic

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