"Revvity Omics, Revvity"[submitter] AND "LOC126860369"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432959	NM_000037.4(ANK1):c.1779_1800+1dup	ANK1, LOC126860369	Duplication (splice donor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1323893	NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs)	ANK1, LOC126860369 (S594fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2439058	NM_000037.4(ANK1):c.1786C>A (p.His596Asn)	ANK1, LOC126860369 (H596N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2432730	NM_000037.4(ANK1):c.1784dup (p.His596fs)	ANK1, LOC126860369 (H596fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2435005	NM_000037.4(ANK1):c.1717dup (p.Leu573fs)	ANK1, LOC126860369 (L573fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 973528	NM_000037.4(ANK1):c.1717del (p.Leu573fs)	ANK1, LOC126860369 (L573fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2432631	NM_000037.4(ANK1):c.1709del (p.Leu570fs)	ANK1, LOC126860369 (L570fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1331095	NM_000037.4(ANK1):c.1702-2A>G	ANK1, LOC126860369	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GPathogenic/Likely pathogenic

ClinVar