C4748135[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441397	NM_001190274.2(FBXO11):c.2161A>G (p.Thr721Ala)	FBXO11 (T637A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441395	NM_001190274.2(FBXO11):c.1643A>T (p.Gln548Leu)	FBXO11 (Q464L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441396	NM_001190274.2(FBXO11):c.1607C>G (p.Pro536Arg)	FBXO11 (P452R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2689059	NM_001190274.2(FBXO11):c.963A>G (p.Ile321Met)	FBXO11 (I237M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441394	NM_001190274.2(FBXO11):c.504C>G (p.Phe168Leu)	FBXO11 (F168L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 2441398	NM_001190274.2(FBXO11):c.274C>G (p.Pro92Ala)	FBXO11 (P8A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GUncertain significance
Select item 1938231	NM_001190274.2(FBXO11):c.174GCC[6] (p.Pro66_Leu67insProProPro)	FBXO11	Microsatellite	not provided +1 more	GConflicting classifications of pathogenicity