F-box protein FBL11 - ClinVar

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Items: 21

The following term was not found in ClinVar: FBL11.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199198	NM_015176.4(FBXO28):c.97C>T (p.Pro33Ser)	FBXO28 (P33S)	Single nucleotide variant (missense variant +1 more)	FBXO28-related developmental and epileptic encephalopathy	GUncertain significance
Select item 1343397	NM_015176.4(FBXO28):c.191T>G (p.Leu64Arg)	FBXO28 (L64R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 992582	NM_001190274.2(FBXO11):c.2636_2637del (p.Glu879fs)	FBXO11, MSH6 (E795fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GPathogenic
Select item 917877	NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)	FBXO11, MSH6 (C868Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1328234	NM_001190274.2(FBXO11):c.2074T>G (p.Tyr692Asp)	FBXO11 (Y608D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 917879	NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)	FBXO11 (G581R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1895453	NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)	FBXO11 (G473R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1013599	NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)	FBXO11 (G462E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 870601	NM_001190274.2(FBXO11):c.1264A>G (p.Ile422Val)	FBXO11 (I338V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 559601	NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser)	FBXO11 (R138S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 984444	NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup)	FBXO11	Duplication (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1297476	NM_001190274.2(FBXO11):c.149A>G (p.Gln50Arg)	FBXO11, LOC100506235 (Q50R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 191371	NM_024665.7(TBL1XR1):c.209G>A (p.Gly70Asp)	TBL1XR1 (G70D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1341563	NM_001278716.2(FBXL4):c.1787del (p.Ser596fs)	FBXL4 (S596fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 917533	NM_001278716.2(FBXL4):c.1538G>T (p.Gly513Val)	FBXL4 (G513V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 224911	NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro)	FBXL4 (L481P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GLikely pathogenic
Select item 1696842	NM_001278716.2(FBXL4):c.1350T>G (p.Cys450Trp)	FBXL4 (C450W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 1696828	NM_001278716.2(FBXL4):c.736dup (p.Ile246fs)	FBXL4 (I246fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 13	GPathogenic
Select item 1188824	NM_058229.4(FBXO32):c.881AGA[1] (p.Lys295del)	FBXO32 (K150del +2 more)	Microsatellite (inframe_deletion)	OMIM: 606604	GLikely pathogenic
Select item 1177304	NM_012158.4(FBXL3):c.751C>T (p.Arg251Ter)	FBXL3 (R251*)	Single nucleotide variant (nonsense)	Intellectual disability, short stature, facial anomalies, and joint dislocations	GPathogenic
Select item 433544	NM_012179.3(FBXO7):c.[274G>C];[520T>A]			Parkinsonian-pyramidal syndrome	GUncertain significance

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Items: 21