"Athena Diagnostics"[submitter] AND "SLC33A1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343874	NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)	SLC33A1 (G509S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 416702	NM_004733.4(SLC33A1):c.1482+7A>G	SLC33A1	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 343875	NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)	SLC33A1 (N484T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 994964	NM_004733.4(SLC33A1):c.1069A>G (p.Ile357Val)	SLC33A1 (D294G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448412	NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys)	SLC33A1 (E283K)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 698290	NM_004733.4(SLC33A1):c.750A>G (p.Gln250=)	SLC33A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 448411	NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe)	SLC33A1 (L124F)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 343881	NM_004733.4(SLC33A1):c.327A>G (p.Gln109=)	SLC33A1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 586608	NM_004733.4(SLC33A1):c.288A>C (p.Pro96=)	SLC33A1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1021456	NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys)	SLC33A1 (S94C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343883	NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)	SLC33A1 (E46K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign