ClinVar for Gene (Select 23291) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093827	NM_001378974.1(FBXW11):c.584C>G (p.Thr195Ser)	FBXW11 (T140S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093826	NM_001378974.1(FBXW11):c.580C>T (p.Arg194Cys)	FBXW11 (R139C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093825	NM_001378974.1(FBXW11):c.578T>C (p.Val193Ala)	FBXW11 (V159A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093824	NM_001378974.1(FBXW11):c.1187A>G (p.Tyr396Cys)	FBXW11 (Y343C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067446	NM_001378974.1(FBXW11):c.971+7G>C	FBXW11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3062832	GRCh37/hg19 5q35.1(chr5:171298769-171556788)x3	FBXW11, STK10	Copy number gain	not specified	GUncertain significance
Select item 3048256	NM_001378974.1(FBXW11):c.188C>T (p.Pro63Leu)	FBXW11 (P10L +3 more)	Single nucleotide variant (missense variant +1 more)	FBXW11-related condition	GUncertain significance
Select item 3032855	NM_001378974.1(FBXW11):c.656A>T (p.Asp219Val)	FBXW11 (D164V +6 more)	Single nucleotide variant (missense variant)	FBXW11-related condition	GUncertain significance
Select item 2771845	NM_001378974.1(FBXW11):c.524G>A (p.Trp175Ter)	FBXW11 (W143* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2692302	NM_001378974.1(FBXW11):c.1405T>C (p.Cys469Arg)	FBXW11 (C414R +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2689061	NM_001378974.1(FBXW11):c.898dup (p.His300fs)	FBXW11 (H245fs +6 more)	Duplication (frameshift variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2662384	NM_001378974.1(FBXW11):c.1237A>T (p.Thr413Ser)	FBXW11 (T358S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656077	NM_001378974.1(FBXW11):c.148-2A>G	FBXW11	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2656076	NM_001378974.1(FBXW11):c.1662C>G (p.Pro554=)	FBXW11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636611	NM_001378974.1(FBXW11):c.508C>G (p.Leu170Val)	FBXW11 (L115V +6 more)	Single nucleotide variant (missense variant)	FBXW11-related condition	GUncertain significance
Select item 2630036	NM_001378974.1(FBXW11):c.43A>C (p.Met15Leu)	FBXW11 (M15L)	Single nucleotide variant (missense variant +1 more)	FBXW11-related condition	GUncertain significance
Select item 2600678	NM_001378974.1(FBXW11):c.79G>T (p.Ala27Ser)	FBXW11 (A27S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600677	NM_001378974.1(FBXW11):c.111T>A (p.Ser37Arg)	FBXW11 (S37R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507126	NM_001378974.1(FBXW11):c.1153G>C (p.Ala385Pro)	FBXW11 (A330P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504471	NM_001378974.1(FBXW11):c.554G>A (p.Trp185Ter)	FBXW11 (W164* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2498993	NM_001378974.1(FBXW11):c.1038C>T (p.His346=)	FBXW11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472819	NM_001378974.1(FBXW11):c.14C>T (p.Ser5Leu)	FBXW11 (S5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446631	NM_001378974.1(FBXW11):c.245G>A (p.Arg82Lys)	FBXW11 (R27K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446604	NM_001378974.1(FBXW11):c.676del (p.Tyr226fs)	FBXW11 (Y171fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2444837	NM_001378974.1(FBXW11):c.1135G>A (p.Val379Ile)	FBXW11 (V324I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444835	NM_001378974.1(FBXW11):c.218A>T (p.Asn73Ile)	FBXW11 (N18I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441401	NM_001378974.1(FBXW11):c.1489C>G (p.Pro497Ala)	FBXW11 (P442A +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2441400	NM_001378974.1(FBXW11):c.529C>T (p.Arg177Ter)	FBXW11 (R122* +6 more)	Single nucleotide variant (nonsense)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 2322852	NM_001378974.1(FBXW11):c.1129C>T (p.Arg377Cys)	FBXW11 (R356C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291283	NM_001378974.1(FBXW11):c.343C>T (p.His115Tyr)	FBXW11 (H60Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279344	NM_001378974.1(FBXW11):c.1042C>T (p.Arg348Cys)	FBXW11 (R316C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1808460	GRCh37/hg19 5q35.1(chr5:171367465-171573381)x1	FBXW11, STK10	Copy number loss	not provided	GUncertain significance
Select item 1804499	NM_001378974.1(FBXW11):c.623G>T (p.Trp208Leu)	FBXW11 (W153L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804377	NM_001378974.1(FBXW11):c.821T>G (p.Ile274Ser)	FBXW11 (I219S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723553	NM_001378974.1(FBXW11):c.1001_1002delinsA (p.Leu334fs)	FBXW11 (L279fs +6 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1710216	NM_001378974.1(FBXW11):c.836G>A (p.Arg279Gln)	FBXW11 (R224Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 1704878	NM_001378974.1(FBXW11):c.121A>C (p.Ser41Arg)	FBXW11 (S41R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1700757	NM_001378974.1(FBXW11):c.1508C>T (p.Thr503Ile)	FBXW11 (T448I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700293	NM_001378974.1(FBXW11):c.742C>T (p.Arg248Ter)	FBXW11 (R193* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1699569	NM_001378974.1(FBXW11):c.1043G>A (p.Arg348His)	FBXW11 (R293H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684740	NM_001378974.1(FBXW11):c.211A>G (p.Ile71Val)	FBXW11 (I16V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677188	NM_001378974.1(FBXW11):c.937G>A (p.Val313Ile)	FBXW11 (V258I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 1499943	NM_001378974.1(FBXW11):c.1543C>T (p.Arg515Cys)	FBXW11 (R460C +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1343816	NM_001378974.1(FBXW11):c.1340G>A (p.Arg447Lys)	FBXW11 (R392K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	Gnot provided
Select item 1320840	NM_001378974.1(FBXW11):c.1655G>A (p.Arg552His)	FBXW11 (R497H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319951	NM_001378974.1(FBXW11):c.1274G>A (p.Arg425Gln)	FBXW11 (R370Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 1318998	NM_001378974.1(FBXW11):c.406T>A (p.Leu136Met)	FBXW11 (L102M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318839	NM_001378974.1(FBXW11):c.1221+5G>C	FBXW11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1316075	NM_001378974.1(FBXW11):c.803_807del (p.Gln268fs)	FBXW11 (Q213fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1064512	NM_001378974.1(FBXW11):c.1403G>T (p.Arg468Leu)	FBXW11 (R413L +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 1064511	NM_001378974.1(FBXW11):c.1403G>A (p.Arg468Gln)	FBXW11 (R413Q +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1064510	NM_001378974.1(FBXW11):c.1393G>A (p.Glu465Lys)	FBXW11 (E410K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 1064509	NM_001378974.1(FBXW11):c.1156G>A (p.Ala386Thr)	FBXW11 (A331T +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +1 more	GPathogenic/Likely pathogenic
Select item 988593	NM_001378974.1(FBXW11):c.1480G>A (p.Ala494Thr)	FBXW11 (A439T +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 980752	GRCh37/hg19 5q35.1(chr5:171292797-171556788)x3	FBXW11, STK10	Copy number gain	not provided	GUncertain significance
Select item 917898	NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg)	FBXW11 (G242R +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 917897	NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)	FBXW11 (A364D +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GLikely pathogenic
Select item 917896	NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)	FBXW11 (R363W +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome	GConflicting classifications of pathogenicity
Select item 873503	NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg)	FBXW11 (W265R +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental, jaw, eye, and digital syndrome +2 more	GConflicting classifications of pathogenicity
Select item 773465	NM_001378974.1(FBXW11):c.1191C>T (p.Ile397=)	FBXW11	Single nucleotide variant (synonymous variant)	FBXW11-related condition +1 more	GBenign/Likely benign
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684881	GRCh37/hg19 5q35.1(chr5:171171671-172022583)x1	STK10, UBTD2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 563123	GRCh37/hg19 5q35.1(chr5:171258648-171298871)x1	FBXW11	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 226164	GRCh37/hg19 5q35.1(chr5:171395554-171508587)	STK10, FBXW11	Copy number gain	Abnormal esophagus morphology	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 78