C2674219[trait identifier] AND "Department of Genetic, Henri Mondor Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 544817	NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)	SPTB (Q1875*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GPathogenic
Select item 544813	NM_001355436.2(SPTB):c.4973+5G>A	SPTB	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 544816	NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	SPTB (R1306*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 544812	NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)	SPTB (R955*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2 +1 more	GPathogenic
Select item 544810	NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs)	SPTB (L444fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GPathogenic
Select item 544811	NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	SPTB (R216Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar