C1851741[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030633	NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)	SPTA1 (E2271fs)	Microsatellite (frameshift variant)	Elliptocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1030631	NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu)	SPTA1 (V2126L)	Single nucleotide variant (missense variant)	Elliptocytosis 2	GUncertain significance
Select item 1030629	NM_003126.4(SPTA1):c.3189-13A>G	SPTA1	Single nucleotide variant (intron variant)	Elliptocytosis 2	GUncertain significance
Select item 1030628	NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter)	SPTA1 (Q1055*)	Single nucleotide variant (nonsense)	Elliptocytosis 2	GPathogenic
Select item 791613	NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)	SPTA1 (D1021V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12847	NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)	SPTA1	Duplication (inframe_insertion)	Elliptocytosis 2 +2 more	GPathogenic/Likely pathogenic

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