Related gene-specific medical variations for Gene (Select 283489) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362067	NM_032436.4(CHAMP1):c.1766A>G (p.Asp589Gly)	CHAMP1 (D589G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362040	NM_032436.4(CHAMP1):c.2066_2067insCCTT (p.Lys689fs)	CHAMP1 (K689fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 3244202	NC_000013.10:g.(?_115078383)_(115109878_?)del	CHAMP1	Deletion	not provided	GPathogenic
Select item 3062279	NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)	CHAMP1 (E677fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 2663767	NM_032436.4(CHAMP1):c.1903_1906del (p.Glu635fs)	CHAMP1 (E635fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 2575934	NM_032436.4(CHAMP1):c.1800_1801insG (p.Leu601fs)	CHAMP1 (L601fs)	Insertion (frameshift variant)	not provided	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 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 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 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 2439935	NM_032436.4(CHAMP1):c.2085A>G (p.Glu695=)	CHAMP1	Single nucleotide variant (synonymous 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 1701773	NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser)	CHAMP1 (P205S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 1342539	NM_032436.4(CHAMP1):c.491C>T (p.Ser164Phe)	CHAMP1 (S164F)	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 987270	NM_032436.4(CHAMP1):c.2012_2016del (p.Met671fs)	CHAMP1 (M671fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 978173	NM_032436.4(CHAMP1):c.1360G>A (p.Asp454Asn)	CHAMP1 (D454N)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 930705	NM_032436.4(CHAMP1):c.1339G>T (p.Asp447Tyr)	CHAMP1 (D447Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 930435	NM_032436.4(CHAMP1):c.170A>G (p.Lys57Arg)	CHAMP1 (K57R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance

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Links from Gene

Items: 21