"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344407	NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp)	ALS2 (R1611W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344403	NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe)	ALS2 (Y1607F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 241313	NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)	ALS2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1344392	NM_020919.4(ALS2):c.4692A>G (p.Thr1564=)	ALS2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 439402	NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)	ALS2 (R1499C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1090663	NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 282606	NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)	ALS2 (I1373M)	Single nucleotide variant (missense variant)	ALS2-related disorder +5 more	GBenign/Likely benign
Select item 374111	NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)	ALS2 (R1341H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 261374	NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 417159	NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GConflicting classifications of pathogenicity
Select item 1344376	NM_020919.4(ALS2):c.3703-7T>C	ALS2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 220656	NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)	ALS2 (E1173K)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +4 more	GBenign/Likely benign
Select item 698907	NM_020919.4(ALS2):c.2979+8T>C	ALS2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 699637	NM_020919.4(ALS2):c.2912+8C>T	ALS2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 333593	NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	ALS2 (G970V)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1344354	NM_020919.4(ALS2):c.2735G>A (p.Arg912His)	ALS2 (R912H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 333594	NM_020919.4(ALS2):c.2712G>A (p.Thr904=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GUncertain significance
Select item 1344349	NM_020919.4(ALS2):c.2583A>G (p.Ala861=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 333595	NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	ALS2 (T827S)	Single nucleotide variant (missense variant)	Tip-toe gait +5 more	GConflicting classifications of pathogenicity
Select item 1344341	NM_020919.4(ALS2):c.2282A>G (p.His761Arg)	ALS2 (H761R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 241310	NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +4 more	GConflicting classifications of pathogenicity
Select item 1344334	NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly)	ALS2 (R619G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 261366	NM_020919.4(ALS2):c.1816-8C>T	ALS2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 333597	NM_020919.4(ALS2):c.1677A>G (p.Lys559=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 695972	NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	ALS2 (D543N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 417160	NM_020919.4(ALS2):c.1578A>G (p.Thr526=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 1344310	NM_020919.4(ALS2):c.1403T>C (p.Val468Ala)	ALS2 (V468A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344304	NM_020919.4(ALS2):c.1359G>C (p.Gln453His)	ALS2 (Q453H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344300	NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del)	ALS2	Deletion (inframe_deletion)	Hereditary spastic paraplegia	GUncertain significance
Select item 241307	NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	ALS2 (P372R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +6 more	GConflicting classifications of pathogenicity
Select item 1344291	NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp)	ALS2 (R350W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344418	NM_020919.4(ALS2):c.853A>G (p.Arg285Gly)	ALS2 (R285G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344415	NM_020919.4(ALS2):c.802G>A (p.Ala268Thr)	ALS2 (A268T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 856390	NM_020919.4(ALS2):c.725T>C (p.Met242Thr)	ALS2 (M242T)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GUncertain significance
Select item 241312	NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)	ALS2 (E159K)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
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 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 261370	NM_020919.4(ALS2):c.280A>G (p.Ile94Val)	ALS2 (I94V)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 1344317	NM_020919.4(ALS2):c.155A>G (p.His52Arg)	ALS2 (H52R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance

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Items: 39