"Baylor Genetics"[submitter] AND "SPTB"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028697	NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)	SPTB (W2061G)	Single nucleotide variant (missense variant)	Elliptocytosis 3	GUncertain significance
Select item 1163366	NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)	SPTB (A2023V)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 2 +2 more	GConflicting classifications of pathogenicity
Select item 313705	NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)	SPTB (R1972Q)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 279902	NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)	SPTB (A1884V)	Single nucleotide variant (missense variant)	SPTB-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1028696	NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)	SPTB (K1369E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313761	NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)	SPTB (D536N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313766	NM_001355436.2(SPTB):c.1493G>A (p.Arg498His)	SPTB (R498H)	Single nucleotide variant (missense variant)	SPTB-related condition +4 more	GUncertain significance
Select item 994306	NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)	SPTB (G291S)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +1 more	GUncertain significance
Select item 1028698	NM_001355436.2(SPTB):c.774G>A (p.Thr258=)	SPTB	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 313785	NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)	SPTB (N9T)	Single nucleotide variant (missense variant)	Elliptocytosis 3 +3 more	GConflicting classifications of pathogenicity