"Jiangsu Institute of Hematology, the First Affiliated Hospital of Soo - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676944	NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)	ANK1 (S1569* +2 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676946	NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)	ANK1 (Q1529* +2 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 1677000	NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)	ANK1 (S1607fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary spherocytosis type 1	GPathogenic
Select item 1393753	NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter)	ANK1, LOC126860368 (Q1513* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1676995	NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)	ANK1 (Q1402* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676945	NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter)	ANK1 (Y1386* +1 more)	Duplication (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 992934	NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)	ANK1 (Q1353* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676985	NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs)	ANK1 (P1217fs +1 more)	Duplication (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676950	NM_000037.4(ANK1):c.3629+1G>C	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676999	NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs)	ANK1 (S1169fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1330761	NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)	ANK1 (R935* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1323138	NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs)	ANK1 (S799fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1300176	NM_000037.4(ANK1):c.2098-1G>T	ANK1	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676949	NM_000037.4(ANK1):c.1602+1G>C	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676948	NM_000037.4(ANK1):c.1405-9G>A	ANK1	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1 +1 more	GLikely pathogenic
Select item 1676966	NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)	ANK1 (Y455* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676947	NM_000037.4(ANK1):c.1305+1G>A	ANK1	Single nucleotide variant (splice donor variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676951	NM_000037.4(ANK1):c.886del (p.Ala296fs)	ANK1 (A296fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GPathogenic
Select item 1676957	NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)	ANK1 (Q107* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1	GPathogenic