"Revvity Omics, Revvity"[submitter] AND "CHAMP1"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439939	NM_032436.4(CHAMP1):c.628C>T (p.Pro210Ser)	CHAMP1 (P210S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2439941	NM_032436.4(CHAMP1):c.712G>A (p.Gly238Arg)	CHAMP1 (G238R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40 +1 more	GUncertain significance
Select item 2439938	NM_032436.4(CHAMP1):c.998C>A (p.Pro333His)	CHAMP1 (P333H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2439937	NM_032436.4(CHAMP1):c.1007C>A (p.Pro336Gln)	CHAMP1 (P336Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2439936	NM_032436.4(CHAMP1):c.1034C>T (p.Pro345Leu)	CHAMP1 (P345L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2439940	NM_032436.4(CHAMP1):c.1295G>A (p.Ser432Asn)	CHAMP1 (S432N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2439933	NM_032436.4(CHAMP1):c.1429C>T (p.Pro477Ser)	CHAMP1 (P477S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 1322073	NM_032436.4(CHAMP1):c.1692dup (p.Lys565fs)	CHAMP1 (K565fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 2439942	NM_032436.4(CHAMP1):c.1767T>G (p.Asp589Glu)	CHAMP1 (D589E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2439935	NM_032436.4(CHAMP1):c.2085A>G (p.Glu695=)	CHAMP1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 40	GUncertain significance