27086[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 915

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
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 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 154137	GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3	FOXP1, FRMD4B +19 more	Copy number gain	See cases	GLikely benign
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 57350	GRCh38/hg38 3p13(chr3:70418081-71438421)x1	FOXP1, FOXP1-AS1 +15 more	Copy number loss	See cases	GPathogenic
Select item 148629	GRCh38/hg38 3p13(chr3:70943620-71861889)x1	EIF4E3, FOXP1 +29 more	Copy number loss	See cases	GPathogenic
Select item 346548	NM_001349338.3(FOXP1):c.*4029del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GConflicting classifications of pathogenicity
Select item 346550	NM_001349338.3(FOXP1):c.*3722del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346553	NM_001349338.3(FOXP1):c.3677_3678insA	FOXP1	Insertion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346554	NM_001349338.3(FOXP1):c.*3676dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GBenign
Select item 346556	NM_001349338.3(FOXP1):c.*3608dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GLikely benign
Select item 346558	NM_001349338.3(FOXP1):c.*3415CG[4]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346560	NM_001349338.3(FOXP1):c.*3417TG[3]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346566	NM_001349338.3(FOXP1):c.*3414GT[2]GCG[1]	FOXP1	Insertion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346565	NM_001349338.3(FOXP1):c.*3391TG[16]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346564	NM_001349338.3(FOXP1):c.*3391TG[14]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GUncertain significance
Select item 346563	NM_001349338.3(FOXP1):c.*3391TG[13]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 346562	NM_001349338.3(FOXP1):c.*3415delinsTGTGTGTGTGT	FOXP1	Indel (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346561	NM_001349338.3(FOXP1):c.*3415delinsTGTGTGTGT	FOXP1	Indel (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346568	NM_001349338.3(FOXP1):c.*3391TG[10]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346567	NM_001349338.3(FOXP1):c.*3391TG[11]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GUncertain significance
Select item 1695077	NM_001349338.3(FOXP1):c.*3413T>C	FOXP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 346570	NM_001349338.3(FOXP1):c.*3403del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346573	NM_001349338.3(FOXP1):c.*3303dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346574	NM_001349338.3(FOXP1):c.*3192del	FOXP1	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346578	NM_001349338.3(FOXP1):c.*2837dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346580	NM_001349338.3(FOXP1):c.*2831dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GUncertain significance
Select item 346579	NM_001349338.3(FOXP1):c.*2832del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346582	NM_001349338.3(FOXP1):c.*2757dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346585	NM_001349338.3(FOXP1):c.2473_2482del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346592	NM_001349338.3(FOXP1):c.*2202GA[1]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346594	NM_001349338.3(FOXP1):c.*2092dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GLikely benign
Select item 346597	NM_001349338.3(FOXP1):c.*1669dup	FOXP1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346598	NM_001349338.3(FOXP1):c.*1541dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GUncertain significance
Select item 346606	NM_001349338.3(FOXP1):c.1231_1235dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GConflicting classifications of pathogenicity
Select item 346611	NM_001349338.3(FOXP1):c.*1125dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GBenign
Select item 346614	NM_001349338.3(FOXP1):c.1049_1050dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features +1 more	GUncertain significance
Select item 346616	NM_001349338.3(FOXP1):c.*1027CTTTT[2]	FOXP1	Microsatellite (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346617	NM_001349338.3(FOXP1):c.1037_1040del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346619	NM_001349338.3(FOXP1):c.1027_1030dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346621	NM_001349338.3(FOXP1):c.923_928dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GBenign
Select item 346623	NM_001349338.3(FOXP1):c.740_743dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346626	NM_001349338.3(FOXP1):c.*596del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346627	NM_001349338.3(FOXP1):c.*567del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346629	NM_001349338.3(FOXP1):c.510_511del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346628	NM_001349338.3(FOXP1):c.*511del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346630	NM_001349338.3(FOXP1):c.*510del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346632	NM_001349338.3(FOXP1):c.507_509del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346631	NM_001349338.3(FOXP1):c.*509del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346633	NM_001349338.3(FOXP1):c.479_480del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346634	NM_001349338.3(FOXP1):c.*479del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346635	NM_001349338.3(FOXP1):c.*476del	FOXP1	Deletion (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
Select item 346638	NM_001349338.3(FOXP1):c.*58dup	FOXP1	Duplication (3 prime UTR variant +1 more)	Intellectual Disability with Language Impairment and Autistic Features	GUncertain significance
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 435243	NM_001349338.3(FOXP1):c.*6G>C	FOXP1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2695973	NM_001349338.3(FOXP1):c.2033G>A (p.Ter678=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755945	NM_001349338.3(FOXP1):c.2032_2033del (p.Ter678ThrextTer?)	FOXP1	Deletion (frameshift variant +2 more)	not provided	GLikely benign
Select item 2847478	NM_001349338.3(FOXP1):c.2031G>A (p.Glu677=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092744	NM_001349338.3(FOXP1):c.2024A>G (p.Asp675Gly)	FOXP1 (D691G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2754892	NM_001349338.3(FOXP1):c.2022G>A (p.Glu674=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1717962	NM_001349338.3(FOXP1):c.2020G>C (p.Glu674Gln)	FOXP1 (E573Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1685827	NM_001349338.3(FOXP1):c.2018del (p.Asn673fs)	FOXP1 (N572fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 2770001	NM_001349338.3(FOXP1):c.2014G>A (p.Val672Ile)	FOXP1 (V671I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939282	NM_001349338.3(FOXP1):c.2001C>T (p.Tyr667=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828741	NM_001349338.3(FOXP1):c.1989T>C (p.His663=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1333829	NM_001349338.3(FOXP1):c.1982T>C (p.Phe661Ser)	FOXP1 (F560S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2139041	NM_001349338.3(FOXP1):c.1977A>G (p.Pro659=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008797	NM_001349338.3(FOXP1):c.1975C>G (p.Pro659Ala)	FOXP1 (P658A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695407	NM_001349338.3(FOXP1):c.1968C>T (p.Asn656=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1783510	NM_001349338.3(FOXP1):c.1965C>T (p.Ala655=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 2126921	NM_001349338.3(FOXP1):c.1957A>G (p.Thr653Ala)	FOXP1 (T553A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2070992	NM_001349338.3(FOXP1):c.1955T>G (p.Val652Gly)	FOXP1 (V652G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2753442	NM_001349338.3(FOXP1):c.1952T>C (p.Leu651Ser)	FOXP1 (L550S +5 more)	Single nucleotide variant (missense variant +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 2006700	NM_001349338.3(FOXP1):c.1948T>A (p.Ser650Thr)	FOXP1 (S549T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498200	NM_001349338.3(FOXP1):c.1946T>C (p.Leu649Pro)	FOXP1 (L548P +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GUncertain significance
Select item 588850	NM_001349338.3(FOXP1):c.1936G>A (p.Glu646Lys)	FOXP1 (E646K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2092182	NM_001349338.3(FOXP1):c.1934C>G (p.Ala645Gly)	FOXP1 (A544G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700059	NM_001349338.3(FOXP1):c.1928A>T (p.Glu643Val)	FOXP1 (E642V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698272	NM_001349338.3(FOXP1):c.1921_1922delinsTT (p.Asp641Phe)	FOXP1 (D541F +5 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2989447	NM_001349338.3(FOXP1):c.1921G>A (p.Asp641Asn)	FOXP1 (D540N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1782350	NM_001349338.3(FOXP1):c.1903G>A (p.Val635Ile)	FOXP1 (V559I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 195626	NM_001349338.3(FOXP1):c.1902C>T (p.His634=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2809819	NM_001349338.3(FOXP1):c.1896T>A (p.Pro632=)	FOXP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1657021	NM_001349338.3(FOXP1):c.1890-8_1890-5dup	FOXP1	Duplication (intron variant)	not provided	GLikely benign
Select item 588819	NM_001349338.3(FOXP1):c.1890-4C>T	FOXP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 3006690	NM_001349338.3(FOXP1):c.1890-10T>A	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282214	NM_001349338.3(FOXP1):c.1890-15G>T	FOXP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2805617	NM_001349338.3(FOXP1):c.1890-16T>C	FOXP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914746	NM_001349338.3(FOXP1):c.1890-17C>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

<< First< Prev

Page of 10