ClinVar for MedGen (Select 482674) - ClinVar - NCBI

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

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233508	NM_003805.5(CRADD):c.393G>A (p.Trp131Ter)	CRADD (W131*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 34 +1 more	GPathogenic
Select item 1330154	NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)	CRADD (R168Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1034028	NM_003805.5(CRADD):c.316A>T (p.Ile106Phe)	CRADD (I106F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 34	GUncertain significance
Select item 1029756	NM_003805.5(CRADD):c.-6-7T>C	CRADD	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 34	GUncertain significance
Select item 1029755	NM_003805.5(CRADD):c.-2A>G	CRADD	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 34	GUncertain significance
Select item 434823	NM_003805.5(CRADD):c.497G>A (p.Arg166His)	CRADD (R166H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 372192	NM_003805.5(CRADD):c.491T>G (p.Phe164Cys)	CRADD (F164C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 34	GPathogenic
Select item 372191	NM_003805.5(CRADD):c.509G>A (p.Arg170His)	CRADD (R170H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GPathogenic
Select item 372190	NM_003805.5(CRADD):c.508C>T (p.Arg170Cys)	CRADD (R170C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 34	GPathogenic
Select item 30360	NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)	CRADD (G128R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic