"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ANK1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979151	NM_000037.4(ANK1):c.5097-34C>T	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1 +1 more	GBenign/Likely benign
Select item 363000	NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)	ANK1	Single nucleotide variant (synonymous variant)	Spherocytosis +2 more	GBenign/Likely benign
Select item 1198634	NM_000037.4(ANK1):c.2390_2393del	ANK1	Microsatellite (splice acceptor variant)	Hereditary spherocytosis type 1 +1 more	GPathogenic
Select item 1330977	NM_000037.4(ANK1):c.1999-17C>T	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1 +1 more	GBenign/Likely benign
Select item 363049	NM_000037.4(ANK1):c.489C>T (p.Leu163=)	ANK1, LOC124153154	Single nucleotide variant (synonymous variant)	Spherocytosis +2 more	GBenign/Likely benign

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