Related gene-specific medical variations for Gene (Select 57679) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690990	NM_020919.4(ALS2):c.2410C>A (p.Pro804Thr)	ALS2 (P804T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684239	NM_020919.4(ALS2):c.2180G>A (p.Gly727Asp)	ALS2 (G727D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2439008	NM_020919.4(ALS2):c.1618G>A (p.Gly540Arg)	ALS2 (G540R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439007	NM_020919.4(ALS2):c.3702+326A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807090	NM_020919.4(ALS2):c.4368G>T (p.Gly1456=)	ALS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807087	NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del)	ALS2 (V397del)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1807086	NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly)	ALS2 (S1116G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807085	NM_020919.4(ALS2):c.1738-4A>G	ALS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1323101	NM_020919.4(ALS2):c.3513-2del	ALS2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1256296	NM_020919.4(ALS2):c.45G>C (p.Lys15Asn)	ALS2 (K15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256295	NM_020919.4(ALS2):c.3981C>T (p.Thr1327=)	ALS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256294	NM_020919.4(ALS2):c.3849A>C (p.Gly1283=)	ALS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256292	NM_020919.4(ALS2):c.2919C>G (p.Gly973=)	ALS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256291	NM_020919.4(ALS2):c.146G>T (p.Gly49Val)	ALS2 (G49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256290	NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser)	ALS2 (N393S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995262	NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly)	ALS2 (S776G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994496	NM_020919.4(ALS2):c.461A>G (p.Gln154Arg)	ALS2 (Q154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989000	NM_020919.4(ALS2):c.3513-1G>A	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 988999	NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp)	ALS2 (G1074D)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 988997	NM_020919.4(ALS2):c.326del (p.Asn109fs)	ALS2 (N109fs)	Deletion (frameshift variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 987220	NM_020919.4(ALS2):c.1652T>A (p.Leu551Ter)	ALS2 (L551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 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 694323	NM_020919.4(ALS2):c.1471+1G>A	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	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 694321	NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro)	ALS2 (L1054P)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 694320	NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter)	ALS2 (Y348*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 624170	NM_020919.4(ALS2):c.2528G>T (p.Arg843Leu)	ALS2 (R843L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624169	NM_020919.4(ALS2):c.3249-6T>G	ALS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 425254	NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp)	ALS2	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 374704	NM_020919.4(ALS2):c.2500A>C (p.Asn834His)	ALS2 (N834H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374590	NM_020919.4(ALS2):c.281T>G (p.Ile94Ser)	ALS2 (I94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333605	NM_020919.4(ALS2):c.-95G>C	ALS2, LOC129935419	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 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 261376	NM_020919.4(ALS2):c.4004+34A>G	ALS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261373	NM_020919.4(ALS2):c.3248+50G>A	ALS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 242672	NM_020919.4(ALS2):c.1821_1825dup (p.Glu609fs)	ALS2 (E609fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242671	NM_020919.4(ALS2):c.3565del (p.Val1189fs)	ALS2 (V1189fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 208554	NM_020919.4(ALS2):c.3624+5G>C	ALS2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 208553	NM_020919.4(ALS2):c.3529G>T (p.Gly1177Ter)	ALS2 (G1177*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 42060	NM_020919.4(ALS2):c.1999-2A>T	ALS2	Single nucleotide variant (splice acceptor variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic

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Links from Gene

Items: 44