"Revvity Omics, Revvity"[submitter] AND "LOC126860368"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433628	NM_000037.4(ANK1):c.4529del (p.Gln1510fs)	ANK1, LOC126860368 (Q1510fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 1950005	NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)	ANK1, LOC126860368 (D1501H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690530	NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)	ANK1, LOC126860368 (R1498fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2688550	NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)	ANK1, LOC126860368 (R1498W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163880	NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)	ANK1, LOC126860368 (R1491H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +2 more	GUncertain significance
Select item 544802	NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	ANK1, LOC126860368 (R1488* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2439070	NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)	ANK1, LOC126860368 (R1476L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2690525	NM_000037.4(ANK1):c.4391-1G>C	ANK1, LOC126860368	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic