ClinVar for MedGen (Select 342870) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1029791	NM_020919.4(ALS2):c.2487G>A (p.Leu829=)	ALS2	Single nucleotide variant (synonymous variant)	Juvenile primary lateral sclerosis	GUncertain significance
Select item 858653	NM_020919.4(ALS2):c.367T>C (p.Cys123Arg)	ALS2 (C123R)	Single nucleotide variant (missense variant)	Juvenile primary lateral sclerosis +1 more	GUncertain significance
Select item 807368	NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter)	ALS2 (G1195*)	Single nucleotide variant (nonsense)	Juvenile primary lateral sclerosis	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 694322	NM_020919.4(ALS2):c.275_276del (p.Tyr92fs)	ALS2 (Y92fs)	Microsatellite (frameshift variant)	Juvenile primary lateral sclerosis	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 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 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 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 261379	NM_020919.4(ALS2):c.4581-48T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +4 more	GBenign
Select item 261378	NM_020919.4(ALS2):c.4580+7G>A	ALS2	Single nucleotide variant (intron variant)	ALS2-related disorder +5 more	GBenign
Select item 261377	NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 261375	NM_020919.4(ALS2):c.4004+25C>T	ALS2	Single nucleotide variant (intron variant)	Juvenile primary lateral sclerosis +4 more	GBenign
Select item 261368	NM_020919.4(ALS2):c.2466G>A (p.Val822=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GBenign
Select item 261367	NM_020919.4(ALS2):c.20+7T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 261364	NM_020919.4(ALS2):c.1102G>A (p.Val368Met)	ALS2 (V368M)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 242457	NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)	ALS2 (R1421*)	Single nucleotide variant (nonsense)	Juvenile primary lateral sclerosis +2 more	GLikely pathogenic
Select item 241312	NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)	ALS2 (E159K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +6 more	GBenign/Likely benign
Select item 241307	NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	ALS2 (P372R)	Single nucleotide variant (missense variant)	ALS2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 217879	NM_020919.3(ALS2):c.[1911C>A;4261C>T]	ALS2 (Y637* +1 more)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 42137	NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu)	ALS2 (G540E)	Single nucleotide variant (missense variant)	Juvenile primary lateral sclerosis	GPathogenic
Select item 4416	NM_020919.4(ALS2):c.2980-2A>G	ALS2	Single nucleotide variant (splice acceptor variant)	Juvenile primary lateral sclerosis	GPathogenic
Select item 4414	NM_020919.4(ALS2):c.553del (p.Thr185fs)	ALS2 (T185fs)	Deletion (frameshift variant)	Juvenile primary lateral sclerosis	GPathogenic
Select item 4407	NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs)	ALS2 (E476fs)	Microsatellite (genic downstream transcript variant +1 more)	Juvenile primary lateral sclerosis	GPathogenic
Select item 4406	NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)	ALS2 (L623fs)	Deletion (genic downstream transcript variant +1 more)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic

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Items: 33