ClinVar for MedGen (Select 1810363) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254968	NM_032436.4(CHAMP1):c.2218T>A (p.Cys740Ser)	CHAMP1 (C740S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 3242136	NM_032436.4(CHAMP1):c.2044G>A (p.Val682Met)	CHAMP1 (V682M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 3234986	NM_032436.4(CHAMP1):c.364G>C (p.Ala122Pro)	CHAMP1 (A122P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 3233724	NM_032436.4(CHAMP1):c.2000_2001del (p.Lys667fs)	CHAMP1 (K667fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 40	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 3024272	NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)	CHAMP1 (Q115*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 2672076	NM_032436.4(CHAMP1):c.2094del (p.Ile698fs)	CHAMP1 (I698fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 40	Gnot provided
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 2572392	NM_032436.4(CHAMP1):c.1440G>A (p.Trp480Ter)	CHAMP1 (W480*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 2444101	NM_032436.4(CHAMP1):c.2004_2005del (p.Asn669fs)	CHAMP1 (N669fs)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 2442350	NM_032436.4(CHAMP1):c.2068_2069del (p.Glu690fs)	CHAMP1 (E690fs)	Deletion (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 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 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 1803267	NM_182931.3(KMT2E):c.658G>A (p.Val220Ile)	KMT2E (V220I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40 +1 more	GConflicting classifications of pathogenicity
Select item 1709765	NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs)	CHAMP1 (P192fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
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 1687482	NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer)	CHAMP1	Deletion (nonsense)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 1686873	NM_032436.4(CHAMP1):c.1876_1877del (p.Ser626fs)	CHAMP1 (S626fs)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 1686872	NM_032436.4(CHAMP1):c.1043G>A (p.Trp348Ter)	CHAMP1 (W348*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 40	GPathogenic
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 1338820	NM_032436.4(CHAMP1):c.1741del (p.Glu581fs)	CHAMP1 (E581fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 1322073	NM_032436.4(CHAMP1):c.1692dup (p.Lys565fs)	CHAMP1 (K565fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 1164024	NM_032436.4(CHAMP1):c.1995dup (p.Ser666Ter)	CHAMP1 (S666*)	Duplication (nonsense)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 1065455	NM_032436.4(CHAMP1):c.647_649dup (p.Ser217Ter)	CHAMP1 (S217*)	Duplication (nonsense)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 1064505	NM_032436.4(CHAMP1):c.959dup (p.Pro320_Arg321insTer)	CHAMP1	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 1031897	NM_032436.4(CHAMP1):c.923C>T (p.Ser308Leu)	CHAMP1 (S308L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 1031896	NM_032436.4(CHAMP1):c.1351C>T (p.Leu451Phe)	CHAMP1 (L451F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 1030238	NM_032436.4(CHAMP1):c.475C>T (p.Pro159Ser)	CHAMP1 (P159S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 997692	NM_032436.4(CHAMP1):c.530_532delinsTTT (p.Ser177_Lys178delinsPheTer)	CHAMP1	Indel (nonsense)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 981896	NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter)	CHAMP1 (K620*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 40 +1 more	GPathogenic
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
Select item 827777	NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)	CHAMP1 (T221fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 717109	NM_032436.4(CHAMP1):c.926C>T (p.Pro309Leu)	CHAMP1 (P309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 715527	NM_032436.4(CHAMP1):c.951T>C (p.Pro317=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder +2 more	GBenign
Select item 596521	NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)	TRIO (Q2942E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 592137	NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)	CHAMP1 (P384S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 217909	NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)	CHAMP1 (S181fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 210050	NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)	CHAMP1, LINC01054 (R497*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 210049	NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)	CHAMP1 (W334*)	Single nucleotide variant (nonsense)	CHAMP1-related syndrome +1 more	GPathogenic
Select item 208417	NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)	CHAMP1 (D622fs)	Deletion (frameshift variant)	intellectual disability with severe speech impairment	GPathogenic
Select item 208416	NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)	CHAMP1 (Q590*)	Single nucleotide variant (nonsense)	intellectual disability with severe speech impairment	GPathogenic
Select item 208415	NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)	CHAMP1 (R398*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 208414	NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	CHAMP1 (P212fs)	Deletion (frameshift variant)	intellectual disability with severe speech impairment	GPathogenic

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Items: 51