"Ambry Genetics"[submitter] AND "KDM1A"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260860	NM_001009999.3(KDM1A):c.181C>A (p.Arg61Ser)	KDM1A (R61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973699	NM_001009999.3(KDM1A):c.262A>G (p.Thr88Ala)	KDM1A (T88A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229543	NM_001009999.3(KDM1A):c.302T>A (p.Ile101Lys)	KDM1A (I101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985659	NM_001009999.3(KDM1A):c.411AGA[2] (p.Glu140del)	KDM1A (E140del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2255502	NM_001009999.3(KDM1A):c.536A>G (p.Gln179Arg)	KDM1A (Q179R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550873	NM_001009999.3(KDM1A):c.961G>A (p.Gly321Arg)	KDM1A (G301R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282922	NM_001009999.3(KDM1A):c.1009G>A (p.Val337Ile)	KDM1A (V337I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474543	NM_001009999.3(KDM1A):c.1405C>T (p.Leu469Phe)	KDM1A (L465F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176115	NM_001009999.3(KDM1A):c.1537G>A (p.Ala513Thr)	KDM1A (A513T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2075194	NM_001009999.3(KDM1A):c.1734+4A>G	KDM1A	Single nucleotide variant (intron variant)	KDM1A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2331216	NM_001009999.3(KDM1A):c.1741G>T (p.Asp581Tyr)	KDM1A (D557Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530337	NM_001009999.3(KDM1A):c.1819G>C (p.Asp607His)	KDM1A (D589H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321531	NM_001009999.3(KDM1A):c.1885G>A (p.Val629Met)	KDM1A (V611M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2102155	NM_001009999.3(KDM1A):c.1981G>A (p.Val661Ile)	KDM1A (V643I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2300905	NM_001009999.3(KDM1A):c.2252G>A (p.Cys751Tyr)	KDM1A (C753Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance