Related gene-specific medical variations for Gene (Select 126860782) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354634	NM_015046.7(SETX):c.7251C>T (p.Tyr2417=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 2951814	NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)	LOC126860782, SETX (V2410A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2922459	NM_015046.7(SETX):c.7222T>C (p.Leu2408=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2684373	NM_015046.7(SETX):c.7200-3T>C	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2192220	NM_015046.7(SETX):c.7248G>A (p.Lys2416=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2153069	NM_015046.7(SETX):c.7203C>T (p.Phe2401=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2043181	NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)	LOC126860782, SETX (I2412V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 1919342	NM_015046.7(SETX):c.7271A>G (p.His2424Arg)	LOC126860782, SETX (H2424R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 1683991	NM_015046.7(SETX):c.7200-172_7200-171del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1629699	NM_015046.7(SETX):c.7200-15T>C	LOC126860782, SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 1343328	NM_015046.7(SETX):c.7235T>C (p.Ile2412Thr)	LOC126860782, SETX (I2412T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1281883	NM_015046.7(SETX):c.7287+279G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261238	NM_015046.7(SETX):c.7200-190A>G	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225051	NM_015046.7(SETX):c.7200-171G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219771	NM_015046.7(SETX):c.7287+3del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1209087	NM_015046.7(SETX):c.7200-198_7200-195del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1208819	NM_015046.7(SETX):c.7287+207C>T	LOC126860782, SETX (L2457F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 4 +2 more	GLikely benign
Select item 1190338	NM_015046.7(SETX):c.7200-191_7200-190del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1096426	NM_015046.7(SETX):c.7281C>G (p.Thr2427=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 994957	NM_015046.7(SETX):c.7266C>T (p.Leu2422=)	LOC126860782, SETX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 569576	NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)	LOC126860782, SETX (L2402V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 468523	NM_015046.7(SETX):c.7200-10dup	LOC126860782, SETX	Duplication (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 440265	NM_015046.7(SETX):c.7200-11_7200-10del	LOC126860782, SETX	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 365345	NM_015046.7(SETX):c.7287+9C>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GConflicting classifications of pathogenicity

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Items: 24