"Ambry Genetics"[submitter] AND "ALS2"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446823	NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr)	ALS2 (K1655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2256441	NM_020919.4(ALS2):c.4946A>C (p.Tyr1649Ser)	ALS2 (Y1649S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114176	NM_020919.4(ALS2):c.4906G>A (p.Glu1636Lys)	ALS2 (E1636K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208757	NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter)	ALS2 (Q1633*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 576790	NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys)	ALS2 (E1449K)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 1035750	NM_020919.4(ALS2):c.4333C>G (p.Pro1445Ala)	ALS2 (P1445A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3291967	NM_020919.4(ALS2):c.4238A>C (p.Lys1413Thr)	ALS2 (K1413T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285685	NM_020919.4(ALS2):c.4227G>T (p.Gln1409His)	ALS2 (Q1408H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1515478	NM_020919.4(ALS2):c.4213C>T (p.Arg1405Cys)	ALS2 (R1405C)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 937314	NM_020919.4(ALS2):c.4145C>T (p.Pro1382Leu)	ALS2 (P1382L)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 2219867	NM_020919.4(ALS2):c.4096G>T (p.Asp1366Tyr)	ALS2 (D1365Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292008	NM_020919.4(ALS2):c.4010A>G (p.Glu1337Gly)	ALS2 (E1337G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114161	NM_020919.4(ALS2):c.4003A>C (p.Ser1335Arg)	ALS2 (S1335R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500475	NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp)	ALS2 (R1329W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 896447	NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)	ALS2 (S1328N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2276075	NM_020919.4(ALS2):c.3937G>A (p.Glu1313Lys)	ALS2 (E1312K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 899196	NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val)	ALS2 (I1220V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GUncertain significance
Select item 1469047	NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn)	ALS2 (T1219N)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 3114144	NM_020919.4(ALS2):c.3638T>G (p.Leu1213Trp)	ALS2 (L1213W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114143	NM_020919.4(ALS2):c.3455T>C (p.Ile1152Thr)	ALS2 (I1152T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 863377	NM_020919.4(ALS2):c.3442C>T (p.Pro1148Ser)	ALS2 (P1148S)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 393199	NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	ALS2 (R1139*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis +4 more	GPathogenic/Likely pathogenic
Select item 3114132	NM_020919.4(ALS2):c.3377G>A (p.Cys1126Tyr)	ALS2 (C1126Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 412226	NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg)	ALS2 (G1107R)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 956744	NM_020919.4(ALS2):c.3280A>G (p.Met1094Val)	ALS2 (M1094V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1331310	NM_020919.4(ALS2):c.3223A>G (p.Met1075Val)	ALS2 (M1075V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2313026	NM_020919.4(ALS2):c.3163T>G (p.Ser1055Ala)	ALS2 (S1055A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 853631	NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn)	ALS2 (S1021N)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 804520	NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu)	ALS2 (P1016L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1972546	NM_020919.4(ALS2):c.2998A>G (p.Ile1000Val)	ALS2 (I1000V)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 3291997	NM_020919.4(ALS2):c.2901A>C (p.Glu967Asp)	ALS2 (E967D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579232	NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro)	ALS2 (L959P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382208	NM_020919.4(ALS2):c.2638C>G (p.Leu880Val)	ALS2 (L880V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 968027	NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe)	ALS2 (L878F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3114113	NM_020919.4(ALS2):c.2621G>C (p.Cys874Ser)	ALS2 (C874S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 895141	NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln)	ALS2 (R843Q)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GUncertain significance
Select item 2612091	NM_020919.4(ALS2):c.2464G>T (p.Val822Leu)	ALS2 (V822L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610049	NM_020919.4(ALS2):c.2329C>G (p.Leu777Val)	ALS2 (L777V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 446820	NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr)	ALS2 (R703T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3292018	NM_020919.4(ALS2):c.2065A>T (p.Met689Leu)	ALS2 (M689L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1006063	NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys)	ALS2 (E629K)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 3114106	NM_020919.4(ALS2):c.1847C>T (p.Ala616Val)	ALS2 (A616V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389895	NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala)	ALS2 (G611A)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 966322	NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn)	ALS2 (D595N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3114094	NM_020919.4(ALS2):c.1655G>C (p.Cys552Ser)	ALS2 (C552S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465181	NM_020919.4(ALS2):c.1641G>A (p.Arg547=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 465180	NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala)	ALS2 (G478A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2294773	NM_020919.4(ALS2):c.1289G>A (p.Cys430Tyr)	ALS2 (C430Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1438460	NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp)	ALS2 (G414D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613274	NM_020919.4(ALS2):c.1160C>T (p.Thr387Ile)	ALS2 (T387I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290005	NM_020919.4(ALS2):c.1148G>T (p.Ser383Ile)	ALS2 (S383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114066	NM_020919.4(ALS2):c.1075G>C (p.Glu359Gln)	ALS2 (E359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693857	NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln)	ALS2 (R350Q)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 2200927	NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)	ALS2 (P337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1358781	NM_020919.4(ALS2):c.1008A>G (p.Ile336Met)	ALS2 (I336M)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 2333794	NM_020919.4(ALS2):c.1000A>G (p.Arg334Gly)	ALS2 (R334G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 333600	NM_020919.4(ALS2):c.997G>T (p.Ala333Ser)	ALS2 (A333S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GUncertain significance
Select item 1309867	NM_020919.4(ALS2):c.878C>G (p.Thr293Ser)	ALS2 (T293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2269447	NM_020919.4(ALS2):c.811C>T (p.His271Tyr)	ALS2 (H271Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165702	NM_020919.4(ALS2):c.784A>G (p.Thr262Ala)	ALS2 (T262A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2258536	NM_020919.4(ALS2):c.752T>C (p.Ile251Thr)	ALS2 (I251T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912801	NM_020919.4(ALS2):c.661C>T (p.Pro221Ser)	ALS2 (P221S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2487443	NM_020919.4(ALS2):c.605T>C (p.Val202Ala)	ALS2 (V202A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1422977	NM_020919.4(ALS2):c.499A>G (p.Ile167Val)	ALS2 (I167V)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 700826	NM_020919.4(ALS2):c.396G>A (p.Pro132=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 533747	NM_020919.4(ALS2):c.358G>T (p.Ala120Ser)	ALS2 (A120S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 643618	NM_020919.4(ALS2):c.329G>T (p.Gly110Val)	ALS2 (G110V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1299768	NM_020919.4(ALS2):c.326A>G (p.Asn109Ser)	ALS2 (N109S)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 2155380	NM_020919.4(ALS2):c.163C>T (p.Leu55Phe)	ALS2 (L55F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2482052	NM_020919.4(ALS2):c.142C>T (p.Leu48Phe)	ALS2 (L48F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114058	NM_020919.4(ALS2):c.100A>G (p.Arg34Gly)	ALS2 (R34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 839228	NM_020919.4(ALS2):c.88A>G (p.Ile30Val)	ALS2 (I30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 72