ClinVar for MedGen (Select 52450) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505370	NM_000175.5(GPI):c.283-2A>G	GPI	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2505369	NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)	SPTB (S722fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2505368	NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)	ANK1 (Y546* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis	GLikely pathogenic
Select item 1326902	NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)	SPTB (G1507V)	Single nucleotide variant (missense variant)	Spherocytosis +2 more	Gnot provided
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	Elliptocytosis 2 +5 more	GPathogenic
Select item 996360	NM_003126.4(SPTA1):c.6788+11C>T	SPTA1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 3 +1 more	GPathogenic
Select item 624571	NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)	SPTB (E1355*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis	GPathogenic
Select item 523132	NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs)	SPTB (A2066fs)	Duplication (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 522602	NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)	SPTB (L2032P)	Single nucleotide variant (missense variant)	Hereditary spherocytosis	GPathogenic

ClinVar