ClinVar for Gene (Select 80204) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 957

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233907	NM_001190274.2(FBXO11):c.1358A>G (p.His453Arg)	FBXO11 (H369R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233334	NM_001190274.2(FBXO11):c.188C>T (p.Pro63Leu)	FBXO11 (P63L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3093587	NM_001190274.2(FBXO11):c.661A>G (p.Ile221Val)	FBXO11 (I221V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093586	NM_001190274.2(FBXO11):c.1429A>T (p.Asn477Tyr)	FBXO11 (N393Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 3063730	NM_001190274.2(FBXO11):c.718-7A>G	FBXO11	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062628	GRCh37/hg19 2p16.3(chr2:48030691-48052660)x3	FBXO11, MSH6	Copy number gain	not specified	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 3022156	NM_001190274.2(FBXO11):c.1546A>T (p.Ile516Leu)	FBXO11 (I432L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3017639	NM_001190274.2(FBXO11):c.1875C>T (p.Gly625=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016692	NM_001190274.2(FBXO11):c.499A>G (p.Ile167Val)	FBXO11 (I167V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3015099	NM_001190274.2(FBXO11):c.354T>C (p.Ser118=)	FBXO11	Single nucleotide variant (synonymous variant)	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 3012976	NM_001190274.2(FBXO11):c.507T>C (p.Ser169=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011683	NM_001190274.2(FBXO11):c.212G>T (p.Arg71Leu)	FBXO11 (R71L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011153	NM_001190274.2(FBXO11):c.935-12T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010078	NM_001190274.2(FBXO11):c.175C>T (p.Pro59Ser)	FBXO11 (P59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008834	NM_001190274.2(FBXO11):c.1258C>G (p.Gln420Glu)	FBXO11 (Q420E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008588	NM_001190274.2(FBXO11):c.2556-6T>C	FBXO11, MSH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007272	NM_001190274.2(FBXO11):c.756T>C (p.His252=)	FBXO11	Single nucleotide variant (synonymous 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 2996936	NM_001190274.2(FBXO11):c.361-19T>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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)	FBXO11, LOC100506235 (Q34P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2988597	NM_001190274.2(FBXO11):c.514C>G (p.Leu172Val)	FBXO11 (L172V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988311	NM_001190274.2(FBXO11):c.261A>G (p.Ala87=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986660	NM_001190274.2(FBXO11):c.2447-22_2447-19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2986461	NM_001190274.2(FBXO11):c.361-12T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985415	NM_001190274.2(FBXO11):c.1440A>T (p.Ala480=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985398	NM_001190274.2(FBXO11):c.200T>C (p.Leu67Pro)	FBXO11 (L67P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2981616	NM_001190274.2(FBXO11):c.1154-23ATAA[2]	FBXO11	Microsatellite (intron variant)	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 2978716	NM_001190274.2(FBXO11):c.1920+17C>T	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977527	NM_001190274.2(FBXO11):c.802-17_802-16delinsAC	FBXO11	Indel (intron variant)	not provided	GBenign
Select item 2976629	NM_001190274.2(FBXO11):c.2555+16_2555+19del	FBXO11, MSH6	Deletion (intron variant)	not provided	GLikely benign
Select item 2975596	NM_001190274.2(FBXO11):c.1153+20T>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974980	NM_001190274.2(FBXO11):c.194C>T (p.Pro65Leu)	FBXO11 (P65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974747	NM_001190274.2(FBXO11):c.801+9G>A	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974575	NM_001190274.2(FBXO11):c.1474G>T (p.Val492Leu)	FBXO11 (V408L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972483	NM_001190274.2(FBXO11):c.186G>T (p.Pro62=)	FBXO11	Single nucleotide variant (synonymous 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 2965716	NM_001190274.2(FBXO11):c.206A>G (p.Gln69Arg)	FBXO11 (Q69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2961711	NM_001190274.2(FBXO11):c.1296G>A (p.Ala432=)	FBXO11	Single nucleotide variant (synonymous 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 2960375	NM_001190274.2(FBXO11):c.555C>T (p.Arg185=)	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 2960051	NM_001190274.2(FBXO11):c.1042-17A>G	FBXO11	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 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 2956585	NM_001190274.2(FBXO11):c.174GCC[4] (p.Pro66_Leu67insPro)	FBXO11	Microsatellite (inframe_insertion)	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 2908806	NM_001190274.2(FBXO11):c.1068A>G (p.Gln356=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2907657	NM_001190274.2(FBXO11):c.1294G>T (p.Ala432Ser)	FBXO11 (A348S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2906339	NM_001190274.2(FBXO11):c.191_199del (p.Pro64_Pro66del)	FBXO11	Deletion (inframe_deletion)	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 2903319	NM_001190274.2(FBXO11):c.171_179del (p.Pro64_Pro66del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2903019	NM_001190274.2(FBXO11):c.218A>T (p.Asn73Ile)	FBXO11 (N73I)	Single nucleotide variant (missense variant)	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 2896843	NM_001190274.2(FBXO11):c.1204C>T (p.His402Tyr)	FBXO11 (H318Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881175	NM_001190274.2(FBXO11):c.278G>A (p.Gly93Asp)	FBXO11 (G93D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2879018	NM_001190274.2(FBXO11):c.1260+9T>A	FBXO11	Single nucleotide variant (intron 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 2877120	NM_001190274.2(FBXO11):c.240T>C (p.Asp80=)	FBXO11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876364	NM_001190274.2(FBXO11):c.232+3A>G	FBXO11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2868750	NM_001190274.2(FBXO11):c.336G>A (p.Ala112=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2867832	NM_001190274.2(FBXO11):c.2196T>C (p.Asp732=)	FBXO11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867639	NM_001190274.2(FBXO11):c.1903A>C (p.Ile635Leu)	FBXO11 (I551L +1 more)	Single nucleotide variant (missense variant)	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 2867025	NM_001190274.2(FBXO11):c.593G>A (p.Arg198Gln)	FBXO11 (R114Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866427	NM_001190274.2(FBXO11):c.1695C>G (p.Asp565Glu)	FBXO11 (D481E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861867	NM_001190274.2(FBXO11):c.542G>A (p.Cys181Tyr)	FBXO11 (C181Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861337	NM_001190274.2(FBXO11):c.1617-3T>C	FBXO11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2860462	NM_001190274.2(FBXO11):c.187C>T (p.Pro63Ser)	FBXO11 (P63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857725	NM_001190274.2(FBXO11):c.1920+12C>T	FBXO11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2846688	NM_001190274.2(FBXO11):c.1032G>C (p.Met344Ile)	FBXO11 (M260I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2844064	NM_001190274.2(FBXO11):c.2246A>C (p.Asp749Ala)	FBXO11 (D665A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

<< First< Prev

Page of 10