FBXO11[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1547756	NM_001190274.2(FBXO11):c.2338+15_2338+16del	FBXO11	Deletion (intron variant)	not provided	GLikely benign
Select item 1988775	NM_001190274.2(FBXO11):c.2338+12C>A	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780322	NM_001190274.2(FBXO11):c.2338+11T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572525	NM_001190274.2(FBXO11):c.2338+10_2338+11del	FBXO11	Deletion (intron variant)	not provided	GLikely benign
Select item 2003974	NM_001190274.2(FBXO11):c.2338+7A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3237512	NM_001190274.2(FBXO11):c.2338+5G>C	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1435714	NM_001190274.2(FBXO11):c.2338+3T>A	FBXO11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1031220	NM_001190274.2(FBXO11):c.2338+2T>C	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329864	NM_001190274.2(FBXO11):c.2338+1G>A	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1672403	NM_001190274.2(FBXO11):c.2334C>T (p.Ala778=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251130	NM_001190274.2(FBXO11):c.2327del (p.Gly776fs)	FBXO11 (G692fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1311954	NM_001190274.2(FBXO11):c.2321T>C (p.Phe774Ser)	FBXO11 (F690S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605416	NM_001190274.2(FBXO11):c.2307G>A (p.Arg769=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428560	NM_001190274.2(FBXO11):c.2299A>G (p.Ile767Val)	FBXO11 (I683V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646710	NM_001190274.2(FBXO11):c.2289T>C (p.Asn763=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948028	NM_001190274.2(FBXO11):c.2283C>T (p.Ser761=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3371076	NM_001190274.2(FBXO11):c.2278A>G (p.Ile760Val)	FBXO11 (I676V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916361	NM_001190274.2(FBXO11):c.2247T>C (p.Asp749=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019503	NM_001190274.2(FBXO11):c.2246A>G (p.Asp749Gly)	FBXO11 (D665G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844064	NM_001190274.2(FBXO11):c.2246A>C (p.Asp749Ala)	FBXO11 (D665A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2777329	NM_001190274.2(FBXO11):c.2228-3T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2014839	NM_001190274.2(FBXO11):c.2228-4A>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921756	NM_001190274.2(FBXO11):c.2228-4A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554033	NM_001190274.2(FBXO11):c.2228-4A>T	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580435	NM_001190274.2(FBXO11):c.2228-12A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924215	NM_001190274.2(FBXO11):c.2228-17G>A	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135545	NM_001190274.2(FBXO11):c.2227+68del	FBXO11	Deletion (intron variant)	not specified	Gnot provided
Select item 135546	NM_001190274.2(FBXO11):c.2227+50_2227+52del	FBXO11	Microsatellite (intron variant)	not specified	Gnot provided
Select item 1553252	NM_001190274.2(FBXO11):c.2227+20A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533838	NM_001190274.2(FBXO11):c.2227+18G>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666842	NM_001190274.2(FBXO11):c.2227+14T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955721	NM_001190274.2(FBXO11):c.2227+11T>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565877	NM_001190274.2(FBXO11):c.2227+9_2227+11del	FBXO11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1602882	NM_001190274.2(FBXO11):c.2227+9G>A	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837183	NM_001190274.2(FBXO11):c.2227+8T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116858	NM_001190274.2(FBXO11):c.2227+7T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2444072	NM_001190274.2(FBXO11):c.2227+3A>G	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1714688	NM_001190274.2(FBXO11):c.2225G>A (p.Arg742Gln)	FBXO11 (R658Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1329863	NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter)	FBXO11 (R658* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1548437	NM_001190274.2(FBXO11):c.2220G>A (p.Gly740=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878595	NM_001190274.2(FBXO11):c.2217T>C (p.Asn739=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809964	NM_001190274.2(FBXO11):c.2207G>T (p.Cys736Phe)	FBXO11 (C652F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598790	NM_001190274.2(FBXO11):c.2205C>T (p.Ile735=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2993506	NM_001190274.2(FBXO11):c.2203A>G (p.Ile735Val)	FBXO11 (I735V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867832	NM_001190274.2(FBXO11):c.2196T>C (p.Asp732=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807417	NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg)	FBXO11 (G730R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 3364840	NM_001190274.2(FBXO11):c.2168GAA[1] (p.Arg724del)	FBXO11 (R640del +1 more)	Microsatellite	not provided	GPathogenic
Select item 2818002	NM_001190274.2(FBXO11):c.2171_2172delinsTT (p.Arg724Ile)	FBXO11 (R640I +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2441397	NM_001190274.2(FBXO11):c.2161A>G (p.Thr721Ala)	FBXO11 (T637A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2837147	NM_001190274.2(FBXO11):c.2158C>A (p.Pro720Thr)	FBXO11 (P636T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638686	NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)	FBXO11 (K631N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 2629408	NM_001190274.2(FBXO11):c.2143A>C (p.Lys715Gln)	FBXO11 (K631Q +1 more)	Single nucleotide variant (missense variant)	FBXO11-related disorder	GLikely pathogenic
Select item 2130064	NM_001190274.2(FBXO11):c.2128G>T (p.Ala710Ser)	FBXO11 (A626S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329873	NM_001190274.2(FBXO11):c.2125A>G (p.Met709Val)	FBXO11 (M625V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2728917	NM_001190274.2(FBXO11):c.2121T>C (p.Asn707=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449471	NM_001190274.2(FBXO11):c.2121T>A (p.Asn707Lys)	FBXO11 (N623K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 975695	NM_001190274.2(FBXO11):c.2120A>G (p.Asn707Ser)	FBXO11 (N623S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3278085	NM_001190274.2(FBXO11):c.2105A>T (p.Asn702Ile)	FBXO11 (N618I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228053	NM_001190274.2(FBXO11):c.2093G>A (p.Cys698Tyr)	FBXO11 (C614Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996702	NM_001190274.2(FBXO11):c.2084-6_2085dup	FBXO11	Duplication (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1339888	NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp)	FBXO11 (G611D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Gnot provided
Select item 2430268	NM_001190274.2(FBXO11):c.2084-93_2084-1del	FBXO11	Deletion (splice acceptor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 996701	NM_001190274.2(FBXO11):c.2084-1G>A	FBXO11	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1604927	NM_001190274.2(FBXO11):c.2084-4A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2800801	NM_001190274.2(FBXO11):c.2084-10G>T	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991387	NM_001190274.2(FBXO11):c.2084-14T>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914415	NM_001190274.2(FBXO11):c.2084-16A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026629	NM_001190274.2(FBXO11):c.2084-17C>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285263	NM_001190274.2(FBXO11):c.2083+20dup	FBXO11	Duplication (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GBenign
Select item 1525525	NM_001190274.2(FBXO11):c.2083+4T>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329978	NM_001190274.2(FBXO11):c.2075A>T (p.Tyr692Phe)	FBXO11 (Y608F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329961	NM_001190274.2(FBXO11):c.2074T>A (p.Tyr692Asn)	FBXO11 (Y608N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1328234	NM_001190274.2(FBXO11):c.2074T>G (p.Tyr692Asp)	FBXO11 (Y608D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2101151	NM_001190274.2(FBXO11):c.2070A>G (p.Leu690=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918306	NM_001190274.2(FBXO11):c.2068C>T (p.Leu690=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960359	NM_001190274.2(FBXO11):c.2064A>G (p.Gly688=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329971	NM_001190274.2(FBXO11):c.2060G>A (p.Gly687Asp)	FBXO11 (G603D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1665538	NM_001190274.2(FBXO11):c.2043C>A (p.Ile681=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975955	NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser)	FBXO11 (N595S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2023544	NM_001190274.2(FBXO11):c.2034C>A (p.Arg678=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630363	NM_001190274.2(FBXO11):c.2033G>A (p.Arg678His)	FBXO11 (R594H +1 more)	Single nucleotide variant (missense variant)	FBXO11-related disorder +1 more	GUncertain significance
Select item 1505725	NM_001190274.2(FBXO11):c.2032C>T (p.Arg678Cys)	FBXO11 (R594C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514103	NM_001190274.2(FBXO11):c.2007-1G>A	FBXO11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1669021	NM_001190274.2(FBXO11):c.2007-5T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110800	NM_001190274.2(FBXO11):c.2007-10C>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654557	NM_001190274.2(FBXO11):c.2007-13_2007-12del	FBXO11	Deletion (intron variant)	not provided	GLikely benign
Select item 1953167	NM_001190274.2(FBXO11):c.2007-13A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937845	NM_001190274.2(FBXO11):c.2007-20A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633062	NM_001190274.2(FBXO11):c.2006+15A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974291	NM_001190274.2(FBXO11):c.2006+6T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1311185	NM_001190274.2(FBXO11):c.1997T>G (p.Val666Gly)	FBXO11 (V582G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917879	NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)	FBXO11 (G581R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2431463	NM_001190274.2(FBXO11):c.1981_1983del (p.His661del)	FBXO11 (H577del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1329973	NM_001190274.2(FBXO11):c.1967A>G (p.Asn656Ser)	FBXO11 (N572S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2033998	NM_001190274.2(FBXO11):c.1956G>A (p.Val652=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815222	NM_001190274.2(FBXO11):c.1953A>G (p.Gly651=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339134	NM_001190274.2(FBXO11):c.1950T>C (p.His650=)	FBXO11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1329874	NM_001190274.2(FBXO11):c.1949A>C (p.His650Pro)	FBXO11 (H566P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1515635	NM_001190274.2(FBXO11):c.1943A>G (p.Asn648Ser)	FBXO11 (N564S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430098	NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)	FBXO11 (V557I +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely pathogenic

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