ClinVar for Gene (Select 100506235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368836	NM_001190274.2(FBXO11):c.99_107del (p.32PPQ[1])	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 3365143	NM_001190274.2(FBXO11):c.14G>C (p.Arg5Pro)	FBXO11, LOC100506235 (R5P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 3016079	NM_001190274.2(FBXO11):c.105G>C (p.Pro35=)	LOC100506235, FBXO11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3002407	NM_001190274.2(FBXO11):c.104_112dup (p.Gln37_Gln38insProProGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant)	not provided	GUncertain significance
Select item 3001135	NM_001190274.2(FBXO11):c.134_166del (p.Pro45_Gln55del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	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)	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 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 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 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)	not provided	GUncertain significance
Select item 2903319	NM_001190274.2(FBXO11):c.171_179del (p.Pro64_Pro66del)	LOC100506235, FBXO11	Deletion	not provided	GLikely benign
Select item 2902078	NM_001190274.2(FBXO11):c.98_112del (p.Pro33_Gln37del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 2875856	NM_001190274.2(FBXO11):c.92_115del (p.Pro31_Gln38del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	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)	not provided	GUncertain significance
Select item 2873662	NM_001190274.2(FBXO11):c.160_161insCGCCCC (p.Gln53_Gln54insProPro)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant)	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 2809789	NM_001190274.2(FBXO11):c.107_148del (p.Pro36_Pro49del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	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 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 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)	not provided	GUncertain significance
Select item 2746463	NM_001190274.2(FBXO11):c.149_196del (p.Gln50_Pro65del)	FBXO11, LOC100506235	Deletion	not provided	GUncertain significance
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 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)	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 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 2635358	NM_001190274.2(FBXO11):c.20C>T (p.Ala7Val)	FBXO11, LOC100506235 (A7V)	Single nucleotide variant (non-coding transcript variant +1 more)	FBXO11-related disorder	GUncertain significance
Select item 2532699	NM_001190274.2(FBXO11):c.66_71del (p.Gln25_Gln26del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	Inborn genetic diseases	GLikely benign
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)	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 2200626	NM_001190274.2(FBXO11):c.77_118dup (p.Gln39_Pro40insGlnProProGlnGlnProProProGlnProProGlnGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant)	not provided	GLikely benign
Select item 2184380	NM_001190274.2(FBXO11):c.135_143del (p.Pro47_Pro49del)	FBXO11, LOC100506235	Deletion (non-coding transcript 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 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)	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
Select item 2115995	NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant)	not provided	GConflicting classifications of pathogenicity
Select item 2102352	NM_001190274.2(FBXO11):c.33C>T (p.Pro11=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077550	NM_001190274.2(FBXO11):c.104C>T (p.Pro35Leu)	FBXO11, LOC100506235 (P35L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2074103	NM_001190274.2(FBXO11):c.96_122dup (p.Pro41_Gln42insProGlnProProGlnGlnGlnProPro)	FBXO11, LOC100506235	Duplication (non-coding transcript variant)	not provided	GLikely benign
Select item 2070185	NM_001190274.2(FBXO11):c.134C>G (p.Pro45Arg)	FBXO11, LOC100506235 (P45R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2066083	NM_001190274.2(FBXO11):c.92CGC[4] (p.Pro33_Gln34insPro)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant)	not provided	GLikely benign
Select item 2062940	NM_001190274.2(FBXO11):c.123_146dup (p.Gln52_Gln53insProProProProProGlnGlnGln)	FBXO11, LOC100506235	Duplication (non-coding transcript variant)	not provided	GUncertain significance
Select item 2045675	NM_001190274.2(FBXO11):c.169C>G (p.Pro57Ala)	FBXO11, LOC100506235 (P57A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2041280	NM_001190274.2(FBXO11):c.26G>A (p.Arg9Gln)	FBXO11, LOC100506235 (R9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030620	NM_001190274.2(FBXO11):c.77_118del (p.Gln26_Gln39del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 2026353	NM_001190274.2(FBXO11):c.139C>T (p.Pro47Ser)	FBXO11, LOC100506235 (P47S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1992913	NM_001190274.2(FBXO11):c.120_146delinsTCCGCCGCCGCCGCAGCAGCAGCA (p.Gln42_Pro49delinsProProProGlnGlnGlnGln)	FBXO11, LOC100506235	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1986174	NM_001190274.2(FBXO11):c.79_80insAGCCCCCGCAGCAGC (p.Gln26_Pro27insGlnProProGlnGln)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 1976160	NM_001190274.2(FBXO11):c.106C>T (p.Pro36Ser)	FBXO11, LOC100506235 (P36S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1964897	NM_001190274.2(FBXO11):c.123_143del (p.Gln42_Pro48del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 1935639	NM_001190274.2(FBXO11):c.135_140dup (p.Pro49_Gln50insProPro)	FBXO11, LOC100506235	Duplication (non-coding transcript variant)	not provided	GUncertain significance
Select item 1933271	NM_001190274.2(FBXO11):c.141G>C (p.Pro47=)	FBXO11, LOC100506235	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1909700	NM_001190274.2(FBXO11):c.151_152insCGC (p.Gln50_Gln51insPro)	FBXO11, LOC100506235	Insertion (non-coding transcript variant)	not provided	GLikely benign
Select item 1907546	NM_001190274.2(FBXO11):c.86_97del (p.25QQPP[1])	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 1906945	NM_001190274.2(FBXO11):c.100C>G (p.Gln34Glu)	FBXO11, LOC100506235 (Q34E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1903106	NM_001190274.2(FBXO11):c.119_130del (p.Pro40_Gln43del)	FBXO11, LOC100506235	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 1902681	NM_001190274.2(FBXO11):c.149AGC[11] (p.Gln56_Pro57insGlnGlnGlnGln)	FBXO11, LOC100506235	Microsatellite (non-coding transcript variant)	not provided	GLikely benign
Select item 1902075	NM_001190274.2(FBXO11):c.52C>T (p.Arg18Cys)	FBXO11, LOC100506235 (R18C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1801904	NM_001190274.2(FBXO11):c.160_161insCTCCGCCGCCGCCGCCGCAGC (p.Gln53_Gln54insProProProProProProGln)	FBXO11, LOC100506235	Insertion (non-coding transcript variant)	not provided	GUncertain significance
Select item 1799565	NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)	FBXO11, LOC100506235 (Q44*)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1709225	NM_001190274.2(FBXO11):c.166C>T (p.Gln56Ter)	FBXO11, LOC100506235 (Q56*)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1671121	NM_001190274.2(FBXO11):c.120_146delinsTCCGCCGCCGCCGCA (p.Gln42_Pro49delinsProProProGln)	FBXO11, LOC100506235	Indel (inframe_indel)	not provided	GLikely benign
Select item 1656377	NM_001190274.2(FBXO11):c.149AGC[4] (p.Gln54_Gln56del)	FBXO11, LOC100506235	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1654110	NM_001190274.2(FBXO11):c.94C>G (p.Pro32Ala)	FBXO11, LOC100506235 (P32A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1644173	NM_001190274.2(FBXO11):c.123C>A (p.Pro41=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641243	NM_001190274.2(FBXO11):c.12C>A (p.Val4=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625499	NM_001190274.2(FBXO11):c.89_103del (p.Gln30_Gln34del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1624029	NM_001190274.2(FBXO11):c.143C>T (p.Pro48Leu)	FBXO11, LOC100506235 (P48L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1623185	NM_001190274.2(FBXO11):c.81C>T (p.Pro27=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622354	NM_001190274.2(FBXO11):c.134_154del (p.Pro45_Gln51del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1617551	NM_001190274.2(FBXO11):c.123_146del (p.Pro45_Gln52del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1616116	NM_001190274.2(FBXO11):c.171T>G (p.Pro57=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614763	NM_001190274.2(FBXO11):c.92CGC[2] (p.Pro33del)	FBXO11, LOC100506235 (P33del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1613329	NM_001190274.2(FBXO11):c.147_182del (p.Gln50_Pro61del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1610567	NM_001190274.2(FBXO11):c.132G>A (p.Gln44=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610405	NM_001190274.2(FBXO11):c.96_122del (p.Pro33_Pro41del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1609984	NM_001190274.2(FBXO11):c.105G>T (p.Pro35=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597838	NM_001190274.2(FBXO11):c.96G>A (p.Pro32=)	FBXO11, LOC100506235	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594199	NM_001190274.2(FBXO11):c.125_136del (p.Gln42_Pro45del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1590735	NM_001190274.2(FBXO11):c.134_157del (p.Pro45_Gln52del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity

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