Related gene-specific medical variations for Gene (Select 80204) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 301

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3067255	NM_001190274.2(FBXO11):c.66A>G (p.Gln22=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3050355	NM_001190274.2(FBXO11):c.2526T>C (p.Tyr842=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	FBXO11-related condition	GLikely benign
Select item 3016079	NM_001190274.2(FBXO11):c.105G>C (p.Pro35=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3013871	NM_001190274.2(FBXO11):c.2447-9_2447-5del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 3008588	NM_001190274.2(FBXO11):c.2556-6T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002407	NM_001190274.2(FBXO11):c.104_112dup (p.Gln37_Gln38insProProGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3001135	NM_001190274.2(FBXO11):c.134_166del (p.Pro45_Gln55del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2997793	NM_001190274.2(FBXO11):c.2454AAT[1] (p.Ile819del)	FBXO11, MSH6 (I819del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2994263	NM_001190274.2(FBXO11):c.2364T>A (p.Thr788=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993100	NM_001190274.2(FBXO11):c.86A>C (p.Gln29Pro)	FBXO11, LOC100506235 (Q29P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2993099	NM_001190274.2(FBXO11):c.95_96insCCA (p.Pro32_Pro33insGln)	FBXO11, LOC100506235	Insertion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2993098	NM_001190274.2(FBXO11):c.98C>A (p.Pro33Gln)	FBXO11, LOC100506235 (P33Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2992082	NM_001190274.2(FBXO11):c.125A>C (p.Gln42Pro)	FBXO11, LOC100506235 (Q42P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2990290	NM_001190274.2(FBXO11):c.101A>C (p.Gln34Pro)	LOC100506235, FBXO11 (Q34P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2986660	NM_001190274.2(FBXO11):c.2447-22_2447-19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2985244	NM_001190274.2(FBXO11):c.102G>A (p.Gln34=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript 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 2976629	NM_001190274.2(FBXO11):c.2555+16_2555+19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2971198	NM_001190274.2(FBXO11):c.2556-3T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971103	NM_001190274.2(FBXO11):c.92C>A (p.Pro31Gln)	FBXO11, LOC100506235 (P31Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2967042	NM_001190274.2(FBXO11):c.81C>G (p.Pro27=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2965259	NM_001190274.2(FBXO11):c.122C>T (p.Pro41Leu)	FBXO11, LOC100506235 (P41L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2961634	NM_001190274.2(FBXO11):c.2555+18_2555+19del	FBXO11, MSH6	Deletion (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 2956861	NM_001190274.2(FBXO11):c.16G>A (p.Ala6Thr)	FBXO11, LOC100506235 (A6T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2908641	NM_001190274.2(FBXO11):c.105G>A (p.Pro35=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2904281	NM_001190274.2(FBXO11):c.77_91dup (p.Gln30_Pro31insGlnProProGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2902078	NM_001190274.2(FBXO11):c.98_112del (p.Pro33_Gln37del)	FBXO11, LOC100506235	Deletion (non-coding transcript 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 2875856	NM_001190274.2(FBXO11):c.92_115del (p.Pro31_Gln38del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2874679	NM_001190274.2(FBXO11):c.171T>C (p.Pro57=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2873663	NM_001190274.2(FBXO11):c.151_152insCGCCCC (p.Gln50_Gln51insProPro)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2873662	NM_001190274.2(FBXO11):c.160_161insCGCCCC (p.Gln53_Gln54insProPro)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2868697	NM_001190274.2(FBXO11):c.5A>G (p.Asn2Ser)	FBXO11, LOC100506235 (N2S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2867305	NM_001190274.2(FBXO11):c.20C>G (p.Ala7Gly)	FBXO11, LOC100506235 (A7G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2851178	NM_001190274.2(FBXO11):c.21C>G (p.Ala7=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2849859	NM_001190274.2(FBXO11):c.30A>G (p.Arg10=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2844735	NM_001190274.2(FBXO11):c.165G>A (p.Gln55=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2826110	NM_001190274.2(FBXO11):c.2447-16C>T	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809789	NM_001190274.2(FBXO11):c.107_148del (p.Pro36_Pro49del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2808845	NM_001190274.2(FBXO11):c.31C>T (p.Pro11Ser)	FBXO11, LOC100506235 (P11S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 2804289	NM_001190274.2(FBXO11):c.140C>T (p.Pro47Leu)	FBXO11, LOC100506235 (P47L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2791993	NM_001190274.2(FBXO11):c.25C>G (p.Arg9Gly)	FBXO11, LOC100506235 (R9G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2789162	NM_001190274.2(FBXO11):c.2447-12_2447-11del	FBXO11, MSH6	Deletion (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 2783176	NM_001190274.2(FBXO11):c.2477T>C (p.Ile826Thr)	FBXO11, MSH6 (I826T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2779801	NM_001190274.2(FBXO11):c.168G>A (p.Gln56=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2770588	NM_001190274.2(FBXO11):c.129_134dup (p.Pro45_Pro46insGlnPro)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2740798	NM_001190274.2(FBXO11):c.2447-20T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724315	NM_001190274.2(FBXO11):c.41T>C (p.Val14Ala)	FBXO11, LOC100506235 (V14A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2716326	NM_001190274.2(FBXO11):c.2400G>A (p.Arg800=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711837	NM_001190274.2(FBXO11):c.2381A>G (p.Asn794Ser)	FBXO11, MSH6 (N794S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2710251	NM_001190274.2(FBXO11):c.2447-16_2447-14del	FBXO11, MSH6	Deletion (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 2707708	NM_001190274.2(FBXO11):c.110A>T (p.Gln37Leu)	FBXO11, LOC100506235 (Q37L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2704756	NM_001190274.2(FBXO11):c.131_139del (p.Gln44_Pro46del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2704707	NM_001190274.2(FBXO11):c.81C>A (p.Pro27=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2695624	NM_001190274.2(FBXO11):c.32C>T (p.Pro11Leu)	FBXO11, LOC100506235 (P11L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2689059	NM_001190274.2(FBXO11):c.963A>G (p.Ile321Met)	FBXO11 (I237M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2683987	NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)	FBXO11 (G419R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2662060	NM_001190274.2(FBXO11):c.97C>T (p.Pro33Ser)	FBXO11, LOC100506235 (P33S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2650892	NM_001190274.2(FBXO11):c.-6C>T	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2650891	NM_001190274.2(FBXO11):c.-5G>A	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2650886	NM_001190274.2(FBXO11):c.2397C>T (p.Asn799=)	FBXO11, MSH6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2650885	NM_001190274.2(FBXO11):c.2555+5C>A	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2635358	NM_001190274.2(FBXO11):c.20C>T (p.Ala7Val)	FBXO11, LOC100506235 (A7V)	Single nucleotide variant (non-coding transcript variant +1 more)	FBXO11-related condition	GUncertain significance
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 2577349	NM_001190274.2(FBXO11):c.2655-14T>G	FBXO11, MSH6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 2574766	NM_001190274.2(FBXO11):c.2365G>A (p.Ala789Thr)	FBXO11, MSH6 (A705T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2532699	NM_001190274.2(FBXO11):c.66_71del (p.Gln25_Gln26del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2505744	NM_001190274.2(FBXO11):c.2476A>G (p.Ile826Val)	FBXO11, MSH6 (I742V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2445742	NM_001190274.2(FBXO11):c.2447-10T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2441648	NM_001190274.2(FBXO11):c.1484G>A (p.Cys495Tyr)	FBXO11 (C411Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441398	NM_001190274.2(FBXO11):c.274C>G (p.Pro92Ala)	FBXO11 (P8A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	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 2441396	NM_001190274.2(FBXO11):c.1607C>G (p.Pro536Arg)	FBXO11 (P452R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441395	NM_001190274.2(FBXO11):c.1643A>T (p.Gln548Leu)	FBXO11 (Q464L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441394	NM_001190274.2(FBXO11):c.504C>G (p.Phe168Leu)	FBXO11 (F168L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
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 2430098	NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)	FBXO11 (V557I +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely pathogenic
Select item 2416904	NM_001190274.2(FBXO11):c.93G>T (p.Pro31=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2416823	NM_001190274.2(FBXO11):c.80_88del (p.Pro27_Gln29del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2250800	NM_001190274.2(FBXO11):c.86A>G (p.Gln29Arg)	FBXO11, LOC100506235 (Q29R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231438	NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)	FBXO11, MSH6 (H907fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2200626	NM_001190274.2(FBXO11):c.77_118dup (p.Gln39_Pro40insGlnProProGlnGlnProProProGlnProProGlnGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2184380	NM_001190274.2(FBXO11):c.135_143del (p.Pro47_Pro49del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2179635	NM_001190274.2(FBXO11):c.2447-6T>C	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 2175453	NM_001190274.2(FBXO11):c.90G>A (p.Gln30=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2168631	NM_001190274.2(FBXO11):c.129G>A (p.Gln43=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2148918	NM_001190274.2(FBXO11):c.99_122del (p.Pro35_Gln42del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2135510	NM_001190274.2(FBXO11):c.56C>T (p.Pro19Leu)	FBXO11, LOC100506235 (P19L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 4