FBXO11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 89149	NM_000179.2(MSH6):c.(?_-152)_(*93_?)del	LOC129933706, FBXO11 +3 more	Deletion	Lynch syndrome	GPathogenic
Select item 1180438	NC_000002.12:g.47804639_48361567dup	FBXO11, FOXN2 +17 more	Duplication	See cases	Gnot provided
Select item 89419	NM_000179.2(MSH6):c.3557-?_(*93_?)del	FBXO11, MSH6	Deletion	Lynch syndrome	GPathogenic
Select item 89155	NM_000179.3(MSH6):c.*85T>A	FBXO11, MSH6	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 801711	NC_000002.12:g.47807212C>A	FBXO11, MSH6	Single nucleotide variant (3 prime UTR variant)	Lynch syndrome 5	GUncertain significance
Select item 3338994	NM_001190274.2(FBXO11):c.*5C>T	FBXO11, MSH6	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1648404	NM_001190274.2(FBXO11):c.2781C>T (p.Asn927=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068486	NM_001190274.2(FBXO11):c.2768C>G (p.Thr923Arg)	FBXO11, MSH6 (T839R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2807436	NM_001190274.2(FBXO11):c.2763T>C (p.Ser921=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 872795	NM_001190274.2(FBXO11):c.2758G>T (p.Glu920Ter)	FBXO11, MSH6 (E836* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1496087	NM_001190274.2(FBXO11):c.2749C>T (p.Pro917Ser)	FBXO11, MSH6 (P917S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329977	NM_001190274.2(FBXO11):c.2748_2749del (p.Pro917fs)	FBXO11, MSH6 (P833fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 2430099	NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)	FBXO11, MSH6 (A832V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1200593	NM_001190274.2(FBXO11):c.2744_2745del (p.Ser915fs)	FBXO11, MSH6 (S831fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 559604	NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer)	FBXO11, MSH6	Microsatellite (nonsense)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1708215	NM_001190274.2(FBXO11):c.2732_2738del (p.Thr911fs)	FBXO11, MSH6 (T827fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 2134559	NM_001190274.2(FBXO11):c.2736dup (p.Tyr913fs)	FBXO11, MSH6 (Y829fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1396336	NM_001190274.2(FBXO11):c.2736A>G (p.Leu912=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036471	NM_001190274.2(FBXO11):c.2734C>T (p.Leu912=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1710209	NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)	FBXO11, MSH6 (T827K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1329875	NM_001190274.2(FBXO11):c.2729A>T (p.Asp910Val)	FBXO11, MSH6 (D826V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 976770	NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)	FBXO11, MSH6 (D826G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2577348	NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)	FBXO11, MSH6 (D826Y +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2095242	NM_001190274.2(FBXO11):c.2728G>C (p.Asp910His)	FBXO11, MSH6 (D826H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519138	NM_001190274.2(FBXO11):c.2728G>A (p.Asp910Asn)	FBXO11, MSH6 (D826N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2231438	NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)	FBXO11, MSH6 (H907fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GLikely pathogenic
Select item 1622628	NM_001190274.2(FBXO11):c.2718A>C (p.Thr906=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996667	NM_001190274.2(FBXO11):c.2714C>G (p.Pro905Arg)	FBXO11, MSH6 (P821R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 559603	NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter)	FBXO11, MSH6 (E820* +1 more)	Duplication (nonsense)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 996703	NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs)	FBXO11, MSH6 (A818fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3278084	NM_001190274.2(FBXO11):c.2703A>T (p.Leu901Phe)	FBXO11, MSH6 (L817F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 975698	NM_001190274.2(FBXO11):c.2700_2703del (p.Ala902fs)	FBXO11, MSH6 (A818fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329942	NM_001190274.2(FBXO11):c.2688_2699del (p.Asn897_Thr900del)	FBXO11, MSH6	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 975699	NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)	FBXO11, MSH6 (T816R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2836066	NM_001190274.2(FBXO11):c.2692C>T (p.Pro898Ser)	FBXO11, MSH6 (P814S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1660996	NM_001190274.2(FBXO11):c.2691T>C (p.Asn897=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804255	NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer)	FBXO11, MSH6	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic
Select item 1532577	NM_001190274.2(FBXO11):c.2675C>T (p.Ala892Val)	FBXO11, MSH6 (A808V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 996666	NM_001190274.2(FBXO11):c.2675C>A (p.Ala892Asp)	FBXO11, MSH6 (A808D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2175177	NM_001190274.2(FBXO11):c.2673T>C (p.Gly891=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898553	NM_001190274.2(FBXO11):c.2670T>C (p.Cys890=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1803736	NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)	FBXO11, MSH6 (D805V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 3361012	NM_001190274.2(FBXO11):c.2663G>A (p.Cys888Tyr)	FBXO11, MSH6 (C804Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1960301	NM_001190274.2(FBXO11):c.2655-9T>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1461791	NM_001190274.2(FBXO11):c.2655-9T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646970	NM_001190274.2(FBXO11):c.2655-13del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2577349	NM_001190274.2(FBXO11):c.2655-14T>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1974017	NM_001190274.2(FBXO11):c.2655-16T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709819	NM_001190274.2(FBXO11):c.2655-17G>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959945	NM_001190274.2(FBXO11):c.2655-19G>T	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2036646	NM_001190274.2(FBXO11):c.2655-19G>A	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1598851	NM_001190274.2(FBXO11):c.2654+17C>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1657017	NM_001190274.2(FBXO11):c.2654+16G>A	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632091	NM_001190274.2(FBXO11):c.2654+13C>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632180	NM_001190274.2(FBXO11):c.2654+12A>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177173	NM_001190274.2(FBXO11):c.2654+10A>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534646	NM_001190274.2(FBXO11):c.2654+8G>T	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977090	NM_001190274.2(FBXO11):c.2653A>G (p.Arg885Gly)	FBXO11, MSH6 (R801G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 992582	NM_001190274.2(FBXO11):c.2636_2637del (p.Glu879fs)	FBXO11, MSH6 (E795fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 2723458	NM_001190274.2(FBXO11):c.2628T>C (p.His876=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981560	NM_001190274.2(FBXO11):c.2619T>C (p.His873=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 917877	NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)	FBXO11, MSH6 (C868Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2036514	NM_001190274.2(FBXO11):c.2598G>A (p.Val866=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1958457	NM_001190274.2(FBXO11):c.2597T>A (p.Val866Glu)	FBXO11, MSH6 (V866E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329960	NM_001190274.2(FBXO11):c.2592_2593del (p.Ile864fs)	FBXO11, MSH6 (I780fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GPathogenic
Select item 2622031	NM_001190274.2(FBXO11):c.2590A>T (p.Ile864Leu)	FBXO11, MSH6 (I780L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1363655	NM_001190274.2(FBXO11):c.2590A>G (p.Ile864Val)	FBXO11, MSH6 (I780V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2106704	NM_001190274.2(FBXO11):c.2574C>G (p.Thr858=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1329965	NM_001190274.2(FBXO11):c.2568_2572del (p.Asn857fs)	FBXO11, MSH6 (N773fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 1329962	NM_001190274.2(FBXO11):c.2570_2572del (p.Asn857del)	FBXO11, MSH6 (N773del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 2804800	NM_001190274.2(FBXO11):c.2564C>G (p.Thr855Ser)	FBXO11, MSH6 (T771S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804599	NM_001190274.2(FBXO11):c.2563A>G (p.Thr855Ala)	FBXO11, MSH6 (T771A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971198	NM_001190274.2(FBXO11):c.2556-3T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3008588	NM_001190274.2(FBXO11):c.2556-6T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033898	NM_001190274.2(FBXO11):c.2556-7T>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050842	NM_001190274.2(FBXO11):c.2556-11T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561119	NM_001190274.2(FBXO11):c.2556-14C>T	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518646	NM_001190274.2(FBXO11):c.2556-19T>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976629	NM_001190274.2(FBXO11):c.2555+16_2555+19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2961634	NM_001190274.2(FBXO11):c.2555+18_2555+19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 1661867	NM_001190274.2(FBXO11):c.2555+19T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964627	NM_001190274.2(FBXO11):c.2555+15T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913434	NM_001190274.2(FBXO11):c.2555+14dup	FBXO11, MSH6	Duplication (intron variant)	not provided	GLikely benign
Select item 1653340	NM_001190274.2(FBXO11):c.2555+13T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784967	NM_001190274.2(FBXO11):c.2555+12A>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665725	NM_001190274.2(FBXO11):c.2555+7T>A	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650885	NM_001190274.2(FBXO11):c.2555+5C>A	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1401771	NM_001190274.2(FBXO11):c.2555+5C>T	FBXO11, MSH6	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1307252	NM_001190274.2(FBXO11):c.2555+4A>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1026273	NM_001190274.2(FBXO11):c.2555+4A>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2441756	NM_001190274.2(FBXO11):c.2542C>T (p.His848Tyr)	FBXO11, MSH6 (H764Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3050355	NM_001190274.2(FBXO11):c.2526T>C (p.Tyr842=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	FBXO11-related disorder	GLikely benign
Select item 1329963	NM_001190274.2(FBXO11):c.2520_2521del (p.Ser841fs)	FBXO11, MSH6 (S757fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 559602	NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro)	FBXO11, MSH6 (S840P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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