"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SPTA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292949	NM_003126.4(SPTA1):c.6789-8del	SPTA1	Deletion (intron variant)	Spherocytosis, Recessive +6 more	GBenign/Likely benign
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	Elliptocytosis 2 +5 more	GPathogenic
Select item 258931	NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 12846	NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)	SPTA1 (A970D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 293016	NM_003126.4(SPTA1):c.2418G>A (p.Glu806=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 293017	NM_003126.4(SPTA1):c.2353C>A (p.Arg785=)	SPTA1	Single nucleotide variant (synonymous variant)	Pyropoikilocytosis, hereditary +3 more	GBenign/Likely benign
Select item 293054	NM_003126.4(SPTA1):c.441C>T (p.Thr147=)	SPTA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

ClinVar