Related gene-specific medical variations for Gene (Select 57609) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064489	NM_173602.3(DIP2B):c.4044-23_4044-15del	DIP2B	Deletion (intron variant)	Intellectual disability, FRA12A type	GLikely pathogenic
Select item 3064403	NM_173602.3(DIP2B):c.1034G>A (p.Arg345His)	DIP2B (R345H)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	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 2440794	NM_173602.3(DIP2B):c.3275G>A (p.Arg1092Gln)	DIP2B (R1092Q)	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 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 2440791	NM_173602.3(DIP2B):c.1027_1029delinsTT (p.Leu343fs)	DIP2B (L343fs)	Indel (frameshift variant)	Intellectual disability, FRA12A type	GUncertain significance
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 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 2430054	NM_173602.3(DIP2B):c.3893T>G (p.Phe1298Cys)	DIP2B (F1298C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1342546	NM_173602.3(DIP2B):c.3908A>G (p.Lys1303Arg)	DIP2B (K1303R)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 1330297	NM_173602.3(DIP2B):c.1567G>C (p.Glu523Gln)	DIP2B (E523Q)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 930932	NM_173602.3(DIP2B):c.685T>A (p.Ser229Thr)	DIP2B (S229T)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type	GUncertain significance
Select item 376904	NM_173602.3(DIP2B):c.998G>C (p.Cys333Ser)	DIP2B (C333S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance