"Ambry Genetics"[submitter] AND "FBXO11"[gene] - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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
Select item 134376	NM_001190274.2(FBXO11):c.2491A>G (p.Ser831Gly)	FBXO11, MSH6 (S747G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1298805	NM_001190274.2(FBXO11):c.2458A>G (p.Met820Val)	FBXO11, MSH6 (M736V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1951936	NM_001190274.2(FBXO11):c.2342T>C (p.Ile781Thr)	FBXO11, MSH6 (I697T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3278085	NM_001190274.2(FBXO11):c.2105A>T (p.Asn702Ile)	FBXO11 (N618I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228053	NM_001190274.2(FBXO11):c.2093G>A (p.Cys698Tyr)	FBXO11 (C614Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309004	NM_001190274.2(FBXO11):c.1855G>A (p.Gly619Arg)	FBXO11 (G619R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1978810	NM_001190274.2(FBXO11):c.1673G>A (p.Arg558Gln)	FBXO11 (R558Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985496	NM_001190274.2(FBXO11):c.1585T>C (p.Trp529Arg)	FBXO11 (W445R +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 1492365	NM_001190274.2(FBXO11):c.1418A>G (p.Asn473Ser)	FBXO11 (N473S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2621947	NM_001190274.2(FBXO11):c.1264A>T (p.Ile422Leu)	FBXO11 (I338L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444568	NM_001190274.2(FBXO11):c.1126C>T (p.His376Tyr)	FBXO11 (H376Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1430995	NM_001190274.2(FBXO11):c.886A>G (p.Thr296Ala)	FBXO11 (T296A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1914745	NM_001190274.2(FBXO11):c.863T>C (p.Ile288Thr)	FBXO11 (I288T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2175952	NM_001190274.2(FBXO11):c.628A>G (p.Met210Val)	FBXO11 (M126V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2288541	NM_001190274.2(FBXO11):c.592C>T (p.Arg198Ter)	FBXO11 (R198* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2127561	NM_001190274.2(FBXO11):c.536C>G (p.Ala179Gly)	FBXO11 (A95G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1909360	NM_001190274.2(FBXO11):c.449C>T (p.Pro150Leu)	FBXO11 (P66L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2271194	NM_001190274.2(FBXO11):c.205C>G (p.Gln69Glu)	FBXO11 (Q69E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1164883	NM_001190274.2(FBXO11):c.149A>C (p.Gln50Pro)	FBXO11, LOC100506235 (Q50P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1532921	NM_001190274.2(FBXO11):c.105GCCCCAGCAGCAGCC[3] (p.37QQQPP[3])	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GLikely benign
Select item 1078575	NM_001190274.2(FBXO11):c.105GCCCCAGCAGCAGCC[1] (p.37QQQPP[1])	FBXO11, LOC100506235	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 975696	NM_001190274.2(FBXO11):c.96_107del (p.Pro33_Pro36del)	FBXO11, LOC100506235	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
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 1167516	NM_001190274.2(FBXO11):c.68AGC[5] (p.Gln26dup)	FBXO11, LOC100506235	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GBenign/Likely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34