"Ambry Genetics"[submitter] AND "AMPD3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2299111	NM_001025389.2(AMPD3):c.5C>T (p.Pro2Leu)	AMPD3 (P11L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213494	NM_001025389.2(AMPD3):c.395G>A (p.Arg132Gln)	AMPD3 (R141Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547102	NM_001025389.2(AMPD3):c.484C>T (p.Arg162Trp)	AMPD3 (R169W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523372	NM_001025389.2(AMPD3):c.557C>A (p.Ala186Glu)	AMPD3 (A195E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238271	NM_001025389.2(AMPD3):c.557C>T (p.Ala186Val)	AMPD3 (A186V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544483	NM_001025389.2(AMPD3):c.766G>A (p.Val256Met)	AMPD3 (V97M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198445	NM_001025389.2(AMPD3):c.1016C>T (p.Thr339Met)	AMPD3 (T348M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2284684	NM_001025389.2(AMPD3):c.1260G>C (p.Met420Ile)	AMPD3 (M420I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 878483	NM_001025389.2(AMPD3):c.1276C>T (p.Arg426Trp)	AMPD3 (R267W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2339128	NM_001025389.2(AMPD3):c.1366T>G (p.Trp456Gly)	AMPD3 (W297G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303097	NM_001025389.2(AMPD3):c.1383G>T (p.Lys461Asn)	AMPD3 (K468N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222495	NM_001025389.2(AMPD3):c.1510A>C (p.Thr504Pro)	AMPD3 (T345P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 302172	NM_001025389.2(AMPD3):c.1513A>G (p.Ile505Val)	AMPD3 (I514V +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +1 more	GUncertain significance
Select item 2374127	NM_001025389.2(AMPD3):c.1532G>A (p.Arg511Gln)	AMPD3 (R352Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462981	NM_001025389.2(AMPD3):c.1688A>G (p.Tyr563Cys)	AMPD3 (Y570C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560222	NM_001025389.2(AMPD3):c.1718G>A (p.Arg573His)	AMPD3 (R414H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880291	NM_001025389.2(AMPD3):c.1729G>A (p.Gly577Ser)	AMPD3 (G584S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2223440	NM_001025389.2(AMPD3):c.1750C>T (p.Arg584Trp)	AMPD3 (R591W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246971	NM_001025389.2(AMPD3):c.1865A>G (p.Tyr622Cys)	AMPD3 (Y631C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232896	NM_001025389.2(AMPD3):c.1882C>A (p.Pro628Thr)	AMPD3 (P469T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624107	NM_001025389.2(AMPD3):c.1955T>A (p.Leu652Gln)	AMPD3 (L661Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243075	NM_001025389.2(AMPD3):c.2168G>A (p.Gly723Glu)	AMPD3 (G564E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249324	NM_001025389.2(AMPD3):c.2213G>T (p.Arg738Leu)	AMPD3 (R745L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 23