"Ambry Genetics"[submitter] AND "MAOA"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225101	NM_000240.4(MAOA):c.137A>G (p.Asp46Gly)	MAOA (D46G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2281257	NM_000240.4(MAOA):c.168+3A>G	MAOA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3122623	NM_000240.4(MAOA):c.235C>G (p.Arg79Gly)	MAOA (R79G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1309136	NM_000240.4(MAOA):c.280A>G (p.Ser94Gly)	MAOA (S94G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1361377	NM_000240.4(MAOA):c.325C>T (p.Arg109Trp)	MAOA (R109W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 435812	NM_000240.4(MAOA):c.330C>T (p.Gly110=)	MAOA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2274887	NM_000240.4(MAOA):c.355A>G (p.Ile119Val)	MAOA (I119V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 129585	NM_000240.4(MAOA):c.385A>C (p.Arg129=)	MAOA	Single nucleotide variant (synonymous variant +1 more)	Brunner syndrome +3 more	GBenign
Select item 522131	NM_000240.4(MAOA):c.400A>G (p.Met134Val)	MAOA (M134V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1737462	NM_000240.4(MAOA):c.405G>A (p.Gly135=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 435813	NM_000240.4(MAOA):c.412-6C>G	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome +2 more	GLikely benign
Select item 2252876	NM_000240.4(MAOA):c.448G>A (p.Asp150Asn)	MAOA (D150N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435814	NM_000240.4(MAOA):c.515G>A (p.Arg172Gln)	MAOA (R172Q +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome +3 more	GBenign
Select item 2337203	NM_000240.4(MAOA):c.565G>T (p.Val189Leu)	MAOA (V189L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1751227	NM_000240.4(MAOA):c.603C>T (p.Cys201=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2407239	NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)	MAOA (N79S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1537792	NM_000240.4(MAOA):c.681C>T (p.Ser227=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome +1 more	GLikely benign
Select item 975746	NM_000240.4(MAOA):c.739G>A (p.Val247Ile)	MAOA (V114I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1760453	NM_000240.4(MAOA):c.774G>A (p.Thr258=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome +1 more	GLikely benign
Select item 198701	NM_000240.4(MAOA):c.825G>A (p.Pro275=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 92664	NM_000240.4(MAOA):c.891G>T (p.Arg297=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 1691072	NM_000240.4(MAOA):c.933G>T (p.Lys311Asn)	MAOA (K178N +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 282807	NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)	MAOA (M416I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 589672	NM_000240.4(MAOA):c.1385G>A (p.Gly462Asp)	MAOA (G462D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 92663	NM_000240.4(MAOA):c.1410T>C (p.Asp470=)	MAOA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2310033	NM_000240.4(MAOA):c.1447G>A (p.Ala483Thr)	MAOA (A483T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310035	NM_000240.4(MAOA):c.1448C>A (p.Ala483Glu)	MAOA (A350E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1772862	NM_000240.4(MAOA):c.1449G>A (p.Ala483=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2551270	NM_000240.4(MAOA):c.1514T>C (p.Ile505Thr)	MAOA (I505T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727173	NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile)	MAOA (T376I +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome +1 more	GLikely benign
Select item 2299098	NM_000240.4(MAOA):c.1549G>A (p.Val517Met)	MAOA (V517M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 435816	NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)	MAOA (K520R +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 32