Related gene-specific medical variations for Gene (Select 27086) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067830	NM_001349338.3(FOXP1):c.-11-36045A>C	FOXP1	Single nucleotide variant (intron variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 3064883	NM_001349338.3(FOXP1):c.282+16777A>G	FOXP1	Single nucleotide variant (intron variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
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 3024288	NM_001349338.3(FOXP1):c.1429-3C>G	LOC126806714, FOXP1	Single nucleotide variant (intron variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 2995007	NM_001349338.3(FOXP1):c.1429-26_1429-12del	FOXP1, LOC126806714	Deletion (intron variant)	not provided	GUncertain significance
Select item 2980733	NM_001349338.3(FOXP1):c.1429-20T>C	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978095	NM_001349338.3(FOXP1):c.1524G>A (p.Thr508=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977909	NM_001349338.3(FOXP1):c.1530+13A>G	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2831347	NM_001349338.3(FOXP1):c.1521C>T (p.Ala507=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824319	NM_001349338.3(FOXP1):c.1482G>A (p.Trp494Ter)	FOXP1, LOC126806714 (W493* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2806877	NM_001349338.3(FOXP1):c.1492A>G (p.Met498Val)	FOXP1, LOC126806714 (M397V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803308	NM_001349338.3(FOXP1):c.1510C>T (p.Arg504Cys)	FOXP1, LOC126806714 (R403C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744344	NM_001349338.3(FOXP1):c.1518G>A (p.Ala506=)	FOXP1, LOC126806714	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2692522	NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)	FOXP1, LOC126806714 (K408fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
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 2575969	NM_001349338.3(FOXP1):c.312_313del (p.Gln105fs)	FOXP1 (Q105fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2573060	NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)	FOXP1 (M476* +5 more)	Indel (nonsense +2 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
Select item 2499989	NM_001349338.3(FOXP1):c.1429-1G>T	FOXP1, LOC126806714	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic
Select item 2499526	GRCh37/hg19 3p13(chr3:71021211-71181046)x1	FOXP1	Copy number loss	Intellectual disability-severe speech delay-mild dysmorphism syndrome	Gnot provided
Select item 2443999	NM_001349338.3(FOXP1):c.1530+1G>T	FOXP1, LOC126806714	Single nucleotide variant (splice donor variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 2441808	NM_001349338.3(FOXP1):c.94C>A (p.Leu32Ile)	FOXP1 (L32I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 2441548	NM_001349338.3(FOXP1):c.952G>A (p.Glu318Lys)	FOXP1 (E217K +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 2441546	NM_001349338.3(FOXP1):c.1286T>G (p.Met429Arg)	FOXP1 (M328R +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 2441545	NM_001349338.3(FOXP1):c.139G>C (p.Gly47Arg)	FOXP1 (G47R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 2441544	NM_001349338.3(FOXP1):c.59C>T (p.Ser20Leu)	FOXP1 (S20L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 2431581	NM_001349338.3(FOXP1):c.1429-1G>A	FOXP1, LOC126806714	Single nucleotide variant (splice acceptor variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
Select item 2430110	NM_001349338.3(FOXP1):c.1280C>T (p.Thr427Ile)	FOXP1 (T326I +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2190271	NM_001349338.3(FOXP1):c.1473C>T (p.Ile491=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168662	NM_001349338.3(FOXP1):c.1437C>T (p.Leu479=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099847	NM_001349338.3(FOXP1):c.1530+12C>T	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088070	NM_001349338.3(FOXP1):c.1429-11C>G	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070138	NM_001349338.3(FOXP1):c.1429-19G>C	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068620	NM_001349338.3(FOXP1):c.1489C>G (p.Arg497Gly)	FOXP1, LOC126806714 (R396G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2052098	NM_001349338.3(FOXP1):c.1515C>T (p.Asn505=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2034213	NM_001349338.3(FOXP1):c.1456C>T (p.Leu486=)	FOXP1, LOC126806714	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024031	NM_001349338.3(FOXP1):c.1530+3A>G	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2016933	NM_001349338.3(FOXP1):c.1530+14G>A	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939747	NM_001349338.3(FOXP1):c.1530+16C>G	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930220	NM_001349338.3(FOXP1):c.1429-18T>C	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927403	NM_001349338.3(FOXP1):c.1530G>T (p.Lys510Asn)	FOXP1, LOC126806714 (K409N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920604	NM_001349338.3(FOXP1):c.1530+15G>A	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1805930	NM_001349338.3(FOXP1):c.1478_1483dup (p.Trp494_Phe495insTyrTrp)	FOXP1, LOC126806714	Duplication (inframe_insertion +2 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 1803027	NM_001349338.3(FOXP1):c.580C>T (p.Gln194Ter)	FOXP1 (Q118* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 1803026	NM_001349338.3(FOXP1):c.573dup (p.Gln192fs)	FOXP1 (Q116fs +4 more)	Duplication (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 1720664	NM_001349338.3(FOXP1):c.1516G>A (p.Ala506Thr)	FOXP1, LOC126806714 (A405T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1720040	NM_001349338.3(FOXP1):c.1432A>C (p.Ile478Leu)	LOC126806714, FOXP1 (I377L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701687	NM_001349338.3(FOXP1):c.-298+4925_-298+4928dup	FOXP1	Duplication (intron variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 1696616	NM_001349338.3(FOXP1):c.38G>T (p.Gly13Val)	FOXP1 (G13V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 1696522	NM_001349338.3(FOXP1):c.-297-21308G>T	FOXP1	Single nucleotide variant (intron variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 1690360	NM_001349338.3(FOXP1):c.1653-31_1653-26del	FOXP1	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1676405	NM_032682.6(FOXP1):c.1379A>G (p.Lys460Arg)	FOXP1 (K359R +4 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1527025	GRCh37/hg19 3p13(chr3:71251088-71312384)	FOXP1	Copy number loss	not specified	GPathogenic
Select item 1527024	GRCh37/hg19 3p13(chr3:71008556-71049017)	FOXP1	Copy number loss	not specified	GPathogenic
Select item 1319269	NM_001349338.3(FOXP1):c.1021T>C (p.Cys341Arg)	FOXP1 (C240R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1314375	NM_001349338.3(FOXP1):c.1523C>T (p.Thr508Met)	FOXP1, LOC126806714 (T407M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 1285565	NM_001244810.1:c.(?_181-50)_(282+50_?)del	FOXP1	Deletion	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
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 1195738	NM_001349338.3(FOXP1):c.1429-70C>T	FOXP1, LOC126806714	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1098603	NM_001349338.3(FOXP1):c.34A>T (p.Asn12Tyr)	FOXP1 (N12Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 985809	NM_001349338.3(FOXP1):c.1495T>C (p.Phe499Leu)	FOXP1, LOC126806714 (F398L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 984884	NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs)	FOXP1, LOC126806714 (L387fs +4 more)	Duplication (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
Select item 980024	GRCh37/hg19 3p13(chr3:70857459-71259544)x1	FOXP1	Copy number loss	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)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
Select item 974847	NM_001349338.3(FOXP1):c.1103dup (p.His368fs)	FOXP1 (H267fs +4 more)	Duplication (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
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 814453	GRCh37/hg19 3p13(chr3:71081905-71227572)x1	FOXP1	Copy number loss	not provided	GPathogenic
Select item 812164	NM_001349338.3(FOXP1):c.407T>A (p.Leu136His)	FOXP1 (L136H +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 809508	NM_001349338.3(FOXP1):c.1471A>T (p.Ile491Phe)	FOXP1, LOC126806714 (I391F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 687303	GRCh37/hg19 3p13(chr3:71339830-71389085)x3	FOXP1	Copy number gain	not provided	GUncertain significance
Select item 624495	GRCh37/hg19 3p13(chr3:71319916-71564385)x3	FOXP1	Copy number gain	not provided	GUncertain significance
Select item 624472	GRCh37/hg19 3p13(chr3:71161687-71591240)x3	FOXP1	Copy number gain	not provided	GUncertain significance
Select item 624030	NM_001349338.3(FOXP1):c.1653_1672dup (p.Asn558fs)	FOXP1 (N457fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
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 619989	NM_001349338.3(FOXP1):c.1429-13_1429-3del	FOXP1, LOC126806714	Deletion (intron variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GLikely pathogenic
Select item 562783	GRCh37/hg19 3p13(chr3:71363860-71500334)x1	FOXP1	Copy number loss	not provided	GUncertain significance
Select item 548533	NM_001349338.3(FOXP1):c.181-17916C>T	FOXP1	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 546939	NM_001349338.3(FOXP1):c.1675A>T (p.Met559Leu)	FOXP1 (M559L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 520738	NM_001349338.3(FOXP1):c.1507del (p.Arg503fs)	FOXP1, LOC126806714 (R403fs +4 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 446359	GRCh37/hg19 3p13(chr3:71129956-71255015)x1	FOXP1	Copy number loss	See cases	GLikely pathogenic
Select item 438294	NM_001349338.3(FOXP1):c.975-2A>C	FOXP1	Single nucleotide variant (splice acceptor variant)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	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)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +2 more	GPathogenic/Likely pathogenic
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 211039	NM_001349338.3(FOXP1):c.1510C>G (p.Arg504Gly)	FOXP1, LOC126806714 (R504G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 211038	NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)	FOXP1, LOC126806714 (R503* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 18427	NC_000003.10:g.(71109689_?)_(?_71508061)del	FOXP1	Deletion	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic

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Items: 89