C1865409[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448346	NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)	SETX (T2478A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 706256	NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)	SETX (R1846C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 468516	NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)	SETX (P1661R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 448330	NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)	SETX (P1622L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 574888	NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)	SETX (L1610F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260506	NM_015046.7(SETX):c.4755T>G (p.Pro1585=)	SETX	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 448329	NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)	SETX (A1478E)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 424692	NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)	SETX (Q1276E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 448317	NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)	SETX (G1006R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1063249	NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)	SETX	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GUncertain significance
Select item 448341	NM_015046.7(SETX):c.654G>C (p.Lys218Asn)	SETX (K218N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +5 more	GConflicting classifications of pathogenicity
Select item 468524	NM_015046.7(SETX):c.71A>G (p.Asn24Ser)	SETX (N24S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 242635	NM_015046.7(SETX):c.59G>A (p.Arg20His)	SETX (R20H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign