"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261378	NM_020919.4(ALS2):c.4580+7G>A	ALS2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 282606	NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)	ALS2 (I1373M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GBenign/Likely benign
Select item 261377	NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 261374	NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GBenign
Select item 417159	NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	ALS2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 1210011	NM_020919.4(ALS2):c.3722A>G (p.Asn1241Ser)	ALS2 (N1241S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 967523	NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser)	ALS2 (G1111S)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GUncertain significance
Select item 261369	NM_020919.4(ALS2):c.2796C>T (p.Ser932=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 333594	NM_020919.4(ALS2):c.2712G>A (p.Thr904=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-Related Disorders +3 more	GUncertain significance
Select item 333595	NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	ALS2 (T827S)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GConflicting classifications of pathogenicity
Select item 261368	NM_020919.4(ALS2):c.2466G>A (p.Val822=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 241310	NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-Related Disorders +4 more	GConflicting classifications of pathogenicity
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 Disorders +4 more	GConflicting classifications of pathogenicity
Select item 465181	NM_020919.4(ALS2):c.1641G>A (p.Arg547=)	ALS2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 261364	NM_020919.4(ALS2):c.1102G>A (p.Val368Met)	ALS2 (V368M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GBenign
Select item 897099	NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)	ALS2 (A296T)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +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	GUncertain significance
Select item 261370	NM_020919.4(ALS2):c.280A>G (p.Ile94Val)	ALS2 (I94V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 261367	NM_020919.4(ALS2):c.20+7T>C	ALS2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 1299787	NM_020919.4(ALS2):c.-60-2A>G	ALS2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic

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Items: 21