ClinVar for MedGen (Select 419413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220897	NM_020919.4(ALS2):c.3249-2A>T	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 3023776	NM_020919.4(ALS2):c.2912+15C>G	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 3021087	NM_020919.4(ALS2):c.2980-19C>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 3020743	NM_020919.4(ALS2):c.4479T>C (p.Tyr1493=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 3020392	NM_020919.4(ALS2):c.3804A>G (p.Leu1268=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 3018519	NM_020919.4(ALS2):c.3348-17A>G	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 3017157	NM_020919.4(ALS2):c.2874G>A (p.Thr958=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 3009677	NM_020919.4(ALS2):c.902T>C (p.Val301Ala)	ALS2 (V301A)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 3004770	NM_020919.4(ALS2):c.1641-4T>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2994855	NM_020919.4(ALS2):c.3836+8_3836+11del	ALS2	Deletion (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2984756	NM_020919.4(ALS2):c.2417+13A>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2981925	NM_020919.4(ALS2):c.175+15G>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2980371	NM_020919.4(ALS2):c.1416A>G (p.Glu472=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2980176	NM_020919.4(ALS2):c.234T>C (p.Cys78=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2977980	NM_020919.4(ALS2):c.3045C>T (p.Pro1015=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2975816	NM_020919.4(ALS2):c.4123-2A>G	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 2973077	NM_020919.4(ALS2):c.1556C>T (p.Ala519Val)	ALS2 (A519V)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2968745	NM_020919.4(ALS2):c.3249-4G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2967173	NM_020919.4(ALS2):c.2647G>T (p.Gly883Cys)	ALS2 (G883C)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2917612	NM_020919.4(ALS2):c.1254G>A (p.Leu418=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2916771	NM_020919.4(ALS2):c.3248+12G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2914403	NM_020919.4(ALS2):c.2760C>T (p.Asn920=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2913068	NM_020919.4(ALS2):c.582G>A (p.Lys194=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2911743	NM_020919.4(ALS2):c.141C>G (p.Ala47=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2911605	NM_020919.4(ALS2):c.4899G>A (p.Gln1633=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2911035	NM_020919.4(ALS2):c.693A>C (p.Arg231=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2910421	NM_020919.4(ALS2):c.3837-7T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2906159	NM_020919.4(ALS2):c.1233T>C (p.Tyr411=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2904775	NM_020919.4(ALS2):c.786A>G (p.Thr262=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2903798	NM_020919.4(ALS2):c.4626+19del	ALS2	Deletion (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GBenign
Select item 2899366	NM_020919.4(ALS2):c.3624+12A>G	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2884755	NM_020919.4(ALS2):c.4280+17C>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2871496	NM_020919.4(ALS2):c.1686C>A (p.Ile562=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2867018	NM_020919.4(ALS2):c.1248G>A (p.Leu416=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2866395	NM_020919.4(ALS2):c.2880G>A (p.Trp960Ter)	ALS2 (W960*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2862603	NM_020919.4(ALS2):c.4838+1G>A	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 2862360	NM_020919.4(ALS2):c.2181C>T (p.Gly727=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2862248	NM_020919.4(ALS2):c.4280+19A>G	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2856843	NM_020919.4(ALS2):c.2892G>A (p.Leu964=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2856462	NM_020919.4(ALS2):c.3799dup (p.Ser1267fs)	ALS2 (S1267fs)	Duplication (frameshift variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2855157	NM_020919.4(ALS2):c.1183C>T (p.Leu395=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2851703	NM_020919.4(ALS2):c.4627-15C>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2846485	NM_020919.4(ALS2):c.2266T>C (p.Leu756=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2831433	NM_020919.4(ALS2):c.2494A>T (p.Ile832Leu)	ALS2 (I832L)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2830944	NM_020919.4(ALS2):c.4281-13del	ALS2	Deletion (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GBenign
Select item 2824945	NM_020919.4(ALS2):c.2525G>C (p.Arg842Thr)	ALS2 (R842T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2824009	NM_020919.4(ALS2):c.1458A>G (p.Gly486=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2822022	NM_020919.4(ALS2):c.641T>G (p.Leu214Ter)	ALS2 (L214*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2818379	NM_020919.4(ALS2):c.3248+1G>C	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 2812833	NM_020919.4(ALS2):c.1819A>G (p.Ser607Gly)	ALS2 (S607G)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2808755	NM_020919.4(ALS2):c.460C>T (p.Gln154Ter)	ALS2 (Q154*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2808754	NM_020919.4(ALS2):c.3194A>C (p.Lys1065Thr)	ALS2 (K1065T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2798611	NM_020919.4(ALS2):c.1196G>A (p.Cys399Tyr)	ALS2 (C399Y)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2797595	NM_020919.4(ALS2):c.3347+7T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2796368	NM_020919.4(ALS2):c.114G>A (p.Trp38Ter)	ALS2 (W38*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2795254	NM_020919.4(ALS2):c.1113+12A>G	ALS2	Single nucleotide variant (intron variant +1 more)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2779332	NM_020919.4(ALS2):c.3096C>T (p.Arg1032=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2776354	NM_020919.4(ALS2):c.1816-17T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2771134	NM_020919.4(ALS2):c.4863A>G (p.Val1621=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2761906	NM_020919.4(ALS2):c.2713-18A>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2754608	NM_020919.4(ALS2):c.1536A>G (p.Thr512=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2750101	NM_020919.4(ALS2):c.2417+16C>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2744988	NM_020919.4(ALS2):c.4839-4G>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2742522	NM_020919.4(ALS2):c.1152G>T (p.Pro384=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2741710	NM_020919.4(ALS2):c.4839-11C>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2738773	NM_020919.4(ALS2):c.3249-20T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2736378	NM_020919.4(ALS2):c.2712+17G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2733525	NM_020919.4(ALS2):c.3249-13T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2732700	NM_020919.4(ALS2):c.4626+12T>G	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2730651	NM_020919.4(ALS2):c.2187A>G (p.Thr729=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2726700	NM_020919.4(ALS2):c.3051T>C (p.Tyr1017=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2725613	NM_020919.4(ALS2):c.3897A>G (p.Glu1299=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2716478	NM_020919.4(ALS2):c.4403+2T>A	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 2707381	NM_020919.4(ALS2):c.4689-7G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2694206	NM_020919.4(ALS2):c.4281-20T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2693479	NM_020919.4(ALS2):c.848T>G (p.Leu283Arg)	ALS2 (L283R)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2627981	NM_020919.4(ALS2):c.4005T>C (p.Ser1335=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2585228	NM_020919.4(ALS2):c.365A>G (p.Gln122Arg)	ALS2 (Q122R)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2585030	NM_020919.4(ALS2):c.3513-2A>T	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 2503048	NM_020919.4(ALS2):c.3703-2A>C	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 2441678	NM_020919.4(ALS2):c.4064del (p.Gln1355fs)	ALS2 (Q1355fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GLikely pathogenic
Select item 2426627	NC_000002.11:g.(?_202566574)_(202633608_?)dup	ALS2	Duplication	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2426626	NC_000002.11:g.(?_202571549)_(202571765_?)del	ALS2	Deletion	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2425048	NM_020919.4(ALS2):c.144C>A (p.Leu48=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2423585	NC_000002.11:g.(?_202501451)_(202633608_?)del	ALS2, MPP4 +1 more	Deletion	Infantile-onset ascending hereditary spastic paralysis +1 more	GPathogenic
Select item 2420952	NM_020919.4(ALS2):c.3808G>A (p.Glu1270Lys)	ALS2 (E1270K)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2419152	NM_020919.4(ALS2):c.176-7C>T	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2418062	NM_020919.4(ALS2):c.653A>G (p.Gln218Arg)	ALS2 (Q218R)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2417559	NM_020919.4(ALS2):c.92C>T (p.Thr31Ile)	ALS2 (T31I)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2417420	NM_020919.4(ALS2):c.4404-5T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2417070	NM_020919.4(ALS2):c.2913-15T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2416585	NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe)	ALS2 (L1522F +1 more)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2202462	NM_020919.4(ALS2):c.4838+10T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2200999	NM_020919.4(ALS2):c.4403+9A>G	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely benign
Select item 2200927	NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)	ALS2 (P337T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 2196140	NM_020919.4(ALS2):c.4396G>A (p.Glu1466Lys)	ALS2 (E1466K +1 more)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2195917	NM_020919.4(ALS2):c.492A>G (p.Ala164=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GLikely benign
Select item 2194522	NM_020919.4(ALS2):c.2521A>G (p.Ile841Val)	ALS2 (I841V)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2192831	NM_020919.4(ALS2):c.4936-1G>C	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 2192692	NM_020919.4(ALS2):c.3394C>A (p.Arg1132Ser)	ALS2 (R1132S)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance

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