"Revvity Omics, Revvity"[submitter] AND "DIP2B"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440790	NM_173602.3(DIP2B):c.26C>T (p.Ser9Leu)	DIP2B (S9L)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440793	NM_173602.3(DIP2B):c.712G>A (p.Ala238Thr)	DIP2B (A238T)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440791	NM_173602.3(DIP2B):c.1027_1029delinsTT (p.Leu343fs)	DIP2B (L343fs)	Indel (frameshift variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440789	NM_173602.3(DIP2B):c.1502A>T (p.Asp501Val)	DIP2B (D501V)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440788	NM_173602.3(DIP2B):c.1672G>A (p.Val558Ile)	DIP2B (V558I)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440795	NM_173602.3(DIP2B):c.1750G>A (p.Val584Ile)	DIP2B (V584I)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type +1 more	GUncertain significance
Select item 2688933	NM_173602.3(DIP2B):c.2405C>T (p.Pro802Leu)	DIP2B (P802L)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440792	NM_173602.3(DIP2B):c.2485G>A (p.Val829Ile)	DIP2B (V829I)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 2440794	NM_173602.3(DIP2B):c.3275G>A (p.Arg1092Gln)	DIP2B (R1092Q)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance