C1865409[trait identifier] AND "Northcott Neuroscience Laboratory, ANZ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155748	NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SETX (I2547T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 155746	NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)	SETX (K1425E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 155745	NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	SETX (N1409Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 155744	NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)	SETX (R1323Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 155743	NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)	SETX (E623D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 155742	NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)	SETX (R502W)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 2290	NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	SETX (T3I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

ClinVar