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

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2233396	NM_015665.6(AAAS):c.1577C>G (p.Ala526Gly)	AAAS (A526G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122918	NM_015665.6(AAAS):c.1517C>T (p.Ala506Val)	AAAS (A473V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359070	NM_015665.6(AAAS):c.1478G>A (p.Arg493His)	AAAS (R460H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316508	NM_015665.6(AAAS):c.1436T>C (p.Ile479Thr)	AAAS (I479T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121773	NM_015665.6(AAAS):c.1433G>A (p.Arg478Gln)	AAAS (R478Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413544	NM_015665.6(AAAS):c.1433G>T (p.Arg478Leu)	AAAS (R445L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2303092	NM_015665.6(AAAS):c.1433G>C (p.Arg478Pro)	AAAS (R445P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317757	NM_015665.6(AAAS):c.1364C>T (p.Pro455Leu)	AAAS (P422L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319117	NM_015665.6(AAAS):c.1319A>T (p.Glu440Val)	AAAS (E407V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306727	NM_015665.6(AAAS):c.1307G>A (p.Ser436Asn)	AAAS (S403N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538455	NM_015665.6(AAAS):c.1264C>G (p.Gln422Glu)	AAAS (Q389E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120115	NM_015665.6(AAAS):c.1248A>C (p.Lys416Asn)	AAAS (K383N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488174	NM_015665.6(AAAS):c.1136C>T (p.Ala379Val)	AAAS (A379V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589379	NM_015665.6(AAAS):c.1082G>A (p.Arg361His)	AAAS (R328H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1411554	NM_015665.6(AAAS):c.1080A>C (p.Glu360Asp)	AAAS (E360D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2531003	NM_015665.6(AAAS):c.1078G>A (p.Glu360Lys)	AAAS (E360K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797998	NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)	AAAS (S324F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2066872	NM_015665.6(AAAS):c.1015G>C (p.Asp339His)	AAAS (D306H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2616842	NM_015665.6(AAAS):c.923C>T (p.Ser308Leu)	AAAS (S308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485806	NM_015665.6(AAAS):c.880C>T (p.Leu294Phe)	AAAS (L261F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1353507	NM_015665.6(AAAS):c.826A>G (p.Thr276Ala)	AAAS (T276A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 881744	NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)	AAAS (R237W +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GUncertain significance
Select item 5045	NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	AAAS (S263P +1 more)	Single nucleotide variant (missense variant)	Spastic paraparesis +5 more	GPathogenic/Likely pathogenic
Select item 1027994	NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)	AAAS (R258W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2251106	NM_015665.6(AAAS):c.766G>C (p.Gly256Arg)	AAAS (G223R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1163533	NM_015665.6(AAAS):c.766G>T (p.Gly256Trp)	AAAS (G223W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2232567	NM_015665.6(AAAS):c.757G>A (p.Ala253Thr)	AAAS (A253T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512880	NM_015665.6(AAAS):c.725C>T (p.Pro242Leu)	AAAS (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1524945	NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)	AAAS (C180S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2528027	NM_015665.6(AAAS):c.613A>G (p.Ser205Gly)	AAAS (S172G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568702	NM_015665.6(AAAS):c.572G>A (p.Arg191Gln)	AAAS (R191Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470690	NM_015665.6(AAAS):c.571C>G (p.Arg191Gly)	AAAS (R158G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231761	NM_015665.6(AAAS):c.526C>T (p.Arg176Cys)	AAAS (R176C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3125998	NM_015665.6(AAAS):c.475T>C (p.Trp159Arg)	AAAS (W159R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2057156	NM_015665.6(AAAS):c.431C>T (p.Ala144Val)	AAAS (A144V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182120	NM_015665.6(AAAS):c.358T>C (p.Trp120Arg)	AAAS (W120R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3318188	NM_015665.6(AAAS):c.353G>A (p.Cys118Tyr)	AAAS (C118Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230532	NM_015665.6(AAAS):c.350T>C (p.Leu117Pro)	AAAS (L117P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044803	NM_015665.6(AAAS):c.326C>T (p.Thr109Met)	AAAS (T109M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2247758	NM_015665.6(AAAS):c.290C>T (p.Ala97Val)	AAAS (A97V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373326	NM_015665.6(AAAS):c.270T>G (p.Phe90Leu)	AAAS (F90L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2284287	NM_015665.6(AAAS):c.207C>G (p.Phe69Leu)	AAAS (F69L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604538	NM_015665.6(AAAS):c.133C>T (p.Leu45Phe)	AAAS (L45F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597222	NM_015665.6(AAAS):c.131A>G (p.Asn44Ser)	AAAS (N44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119846	NM_015665.6(AAAS):c.123+1G>A	AAAS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3118727	NM_015665.6(AAAS):c.107C>T (p.Pro36Leu)	AAAS (P36L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518331	NM_015665.6(AAAS):c.80C>T (p.Thr27Met)	AAAS (T27M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126767	NM_015665.6(AAAS):c.52C>G (p.Leu18Val)	AAAS (L18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124000	NM_015665.6(AAAS):c.26C>G (p.Pro9Arg)	AAAS (P9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 49