ClinVar for MedGen (Select 349246) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359053	NM_020919.4(ALS2):c.1250C>G (p.Ser417Ter)	ALS2 (S417*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 2, juvenile	GPathogenic
Select item 2444376	NM_020919.4(ALS2):c.2168dup (p.Leu723fs)	ALS2 (L723fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 2444046	NM_020919.4(ALS2):c.3893del (p.Asp1298fs)	ALS2 (D1298fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
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 1895403	NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)	ALS2 (I441fs)	Deletion (frameshift variant)	Juvenile primary lateral sclerosis +2 more	GLikely pathogenic
Select item 1805509	NM_020919.4(ALS2):c.176A>T (p.Asp59Val)	ALS2 (D59V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GUncertain significance
Select item 1693002	NM_020919.4(ALS2):c.2580+2T>C	ALS2	Single nucleotide variant (splice donor variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GPathogenic
Select item 1678522	NM_020919.4(ALS2):c.2707dup (p.Met903fs)	ALS2 (M903fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 2, juvenile	GPathogenic
Select item 1678521	NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter)	ALS2 (L1408*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 2, juvenile	GPathogenic
Select item 1671695	NM_020919.4(ALS2):c.2170+19T>C	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GLikely benign
Select item 1339519	NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu)	ALS2 (P550L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 1219899	NM_020919.4(ALS2):c.2842-20C>T	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GBenign/Likely benign
Select item 1189020	NM_020919.4(ALS2):c.4123-64G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GBenign
Select item 1188975	NM_020919.4(ALS2):c.4627-69T>A	ALS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188874	NM_020919.4(ALS2):c.2171-62C>T	ALS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184930	NM_020919.4(ALS2):c.4626+1G>A	ALS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 983309	NM_020919.4(ALS2):c.346G>A (p.Gly116Arg)	ALS2 (G116R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GUncertain significance
Select item 973527	NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs)	ALS2 (S1585fs)	Microsatellite (frameshift variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 899302	NM_020919.4(ALS2):c.1402G>A (p.Val468Met)	ALS2 (V468M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 899301	NM_020919.4(ALS2):c.1545A>C (p.Gly515=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 899251	NM_020919.4(ALS2):c.2580+15A>G	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	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 899132	NM_020919.4(ALS2):c.4566T>C (p.Phe1522=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 899131	NM_020919.4(ALS2):c.4627-4G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 899078	NM_020919.4(ALS2):c.*586G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 899077	NM_020919.4(ALS2):c.*764A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 899076	NM_020919.4(ALS2):c.*843G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GBenign
Select item 899008	NM_020919.4(ALS2):c.*1533C>T	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 898271	NM_020919.4(ALS2):c.395C>T (p.Pro132Leu)	ALS2 (P132L)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GUncertain significance
Select item 898198	NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr)	ALS2 (D595Y)	Single nucleotide variant (missense variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 898143	NM_020919.4(ALS2):c.2802T>C (p.Asn934=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 898013	NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys)	ALS2 (R1653C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 897941	NM_020919.4(ALS2):c.*1079A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 897166	NM_020919.4(ALS2):c.-99C>T	ALS2, LOC129935419	Single nucleotide variant (5 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 897099	NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)	ALS2 (A296T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GUncertain significance
Select item 897098	NM_020919.4(ALS2):c.1011A>G (p.Pro337=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 896633	NM_020919.4(ALS2):c.1044C>T (p.Tyr348=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 896568	NM_020919.4(ALS2):c.1816-7G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 896567	NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr)	ALS2 (S788T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GUncertain significance
Select item 896524	NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe)	ALS2 (L985F)	Single nucleotide variant (missense variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 896523	NM_020919.4(ALS2):c.2961A>G (p.Ser987=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +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 896383	NM_020919.4(ALS2):c.*302A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 896320	NM_020919.4(ALS2):c.*1093C>T	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 896319	NM_020919.4(ALS2):c.*1219C>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 895271	NM_020919.4(ALS2):c.339C>T (p.Tyr113=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 895215	NM_020919.4(ALS2):c.1325G>T (p.Gly442Val)	ALS2 (G442V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 895143	NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg)	ALS2 (Q817R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 895142	NM_020919.4(ALS2):c.2472C>T (p.Asp824=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	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 895080	NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895079	NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys)	ALS2 (R1132C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GUncertain significance
Select item 895078	NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln)	ALS2 (R1139Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 894947	NM_020919.4(ALS2):c.*426T>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894946	NM_020919.4(ALS2):c.*504G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894945	NM_020919.4(ALS2):c.*584G>A	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 894878	NM_020919.4(ALS2):c.*1259A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GUncertain significance
Select item 894877	NM_020919.4(ALS2):c.*1328G>T	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894876	NM_020919.4(ALS2):c.*1398C>A	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 894875	NM_020919.4(ALS2):c.*1501A>G	ALS2	Single nucleotide variant (3 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 873269	NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu)	ALS2 (P1603L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 873268	NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)	ALS2 (R1461*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GPathogenic
Select item 804392	NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)	ALS2 (R201*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GPathogenic/Likely pathogenic
Select item 804391	NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)	ALS2 (E702*)	Single nucleotide variant (nonsense)	Juvenile primary lateral sclerosis +2 more	GLikely pathogenic
Select item 748342	NM_020919.4(ALS2):c.2541C>T (p.Tyr847=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GConflicting classifications of pathogenicity
Select item 743804	NM_020919.4(ALS2):c.1640+10A>G	ALS2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 700826	NM_020919.4(ALS2):c.396G>A (p.Pro132=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GConflicting classifications of pathogenicity
Select item 699737	NM_020919.4(ALS2):c.3462G>A (p.Gln1154=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GBenign/Likely benign
Select item 699637	NM_020919.4(ALS2):c.2912+8C>T	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GConflicting classifications of pathogenicity
Select item 698712	NM_020919.4(ALS2):c.366G>A (p.Gln122=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GConflicting classifications of pathogenicity
Select item 696111	NM_020919.4(ALS2):c.3905G>A (p.Arg1302His)	ALS2 (R1302H)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GLikely benign
Select item 695972	NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	ALS2 (D543N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 694319	NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)	ALS2 (A573E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GLikely pathogenic
Select item 648585	NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)	ALS2 (T1472M)	Single nucleotide variant (missense variant)	ALS2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 645923	NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)	ALS2 (K1174*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 580658	NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)	ALS2 (K1045M)	Single nucleotide variant (missense variant)	Juvenile primary lateral sclerosis +2 more	GUncertain significance
Select item 533752	NM_020919.4(ALS2):c.331G>A (p.Val111Ile)	ALS2 (V111I)	Single nucleotide variant (missense variant)	ALS2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 533749	NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)	ALS2 (P1016A)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 533745	NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser)	ALS2 (N346S)	Single nucleotide variant (missense variant)	ALS2-related disorder +2 more	GUncertain significance
Select item 533743	NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)	ALS2 (Y411*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis +2 more	GPathogenic
Select item 533742	NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)	ALS2 (P1288L)	Single nucleotide variant (missense variant)	ALS2-related disorder +4 more	GUncertain significance
Select item 465189	NM_020919.4(ALS2):c.3309T>C (p.His1103=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GBenign/Likely benign
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 465179	NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr)	ALS2 (A391T)	Single nucleotide variant (missense variant)	ALS2-related disorder +2 more	GUncertain significance
Select item 425255	NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)	ALS2 (W1053*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 417159	NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 374111	NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)	ALS2 (R1341H)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GUncertain significance
Select item 333605	NM_020919.4(ALS2):c.-95G>C	ALS2, LOC129935419	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 333604	NM_020919.4(ALS2):c.-93A>G	ALS2, LOC129935419	Single nucleotide variant (5 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333603	NM_020919.4(ALS2):c.-31T>A	ALS2	Single nucleotide variant (5 prime UTR variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333602	NM_020919.4(ALS2):c.20+9A>G	ALS2	Single nucleotide variant (intron variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333601	NM_020919.4(ALS2):c.248T>G (p.Ile83Ser)	ALS2 (I83S)	Single nucleotide variant (missense variant)	ALS2-related disorder +1 more	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 333599	NM_020919.4(ALS2):c.1251A>G (p.Ser417=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333598	NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn)	ALS2 (T428N)	Single nucleotide variant (missense variant)	ALS2-related disorder +2 more	GUncertain significance
Select item 333596	NM_020919.4(ALS2):c.1805G>A (p.Arg602His)	ALS2 (R602H)	Single nucleotide variant (missense variant)	ALS2-related disorder +1 more	GUncertain significance
Select item 333595	NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	ALS2 (T827S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 333594	NM_020919.4(ALS2):c.2712G>A (p.Thr904=)	ALS2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 333593	NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	ALS2 (G970V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2