"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258955	NM_003126.4(SPTA1):c.6549-12G>A	SPTA1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 258954	NM_003126.4(SPTA1):c.6531-12C>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +4 more	GConflicting classifications of pathogenicity
Select item 258948	NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)	SPTA1 (L1858V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 812889	NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter)	SPTA1 (Q1393*)	Single nucleotide variant (nonsense)	Hemolytic anemia	GLikely pathogenic
Select item 812890	NM_003126.4(SPTA1):c.2464+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	SPTA1-related disorder +1 more	GLikely pathogenic
Select item 812891	NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)	SPTA1 (R785*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

ClinVar