"Baylor Genetics"[submitter] AND "FBXO11"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441756	NM_001190274.2(FBXO11):c.2542C>T (p.His848Tyr)	FBXO11, MSH6 (H764Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 3237512	NM_001190274.2(FBXO11):c.2338+5G>C	FBXO11	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 1031220	NM_001190274.2(FBXO11):c.2338+2T>C	FBXO11	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2441648	NM_001190274.2(FBXO11):c.1484G>A (p.Cys495Tyr)	FBXO11 (C411Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1031218	NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val)	FBXO11 (D372V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GConflicting classifications of pathogenicity
Select item 1031221	NM_001190274.2(FBXO11):c.626C>G (p.Pro209Arg)	FBXO11 (P125R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1031219	NM_001190274.2(FBXO11):c.172C>G (p.Pro58Ala)	FBXO11 (P58A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1031217	NM_001190274.2(FBXO11):c.125A>G (p.Gln42Arg)	FBXO11, LOC100506235 (Q42R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1031216	NM_001190274.2(FBXO11):c.107C>T (p.Pro36Leu)	FBXO11, LOC100506235 (P36L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity