C2674219[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333304	NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)	SPTB (K1816*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1705677	NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)	SPTB (Q1028*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1705421	NM_001355436.2(SPTB):c.1908del (p.Lys637fs)	SPTB (K637fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2444088	NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)	SPTB (E489*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GLikely pathogenic
Select item 1705517	NM_001355436.2(SPTB):c.474+1G>A	SPTB	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic

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