"Department of Medical Genetics, Oslo University Hospital"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100797	NM_006563.5(KLF1):c.1022G>A (p.Cys341Tyr)	KLF1, LOC117125591 (C341Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 56892	NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser)	KLF1, LOC117125591 (P338S)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR +2 more	GPathogenic
Select item 100796	NM_006563.5(KLF1):c.1001C>G (p.Thr334Arg)	KLF1, LOC117125591 (T334R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 100801	NM_006563.5(KLF1):c.913+1G>A	KLF1, LOC117125591	Single nucleotide variant (splice donor variant)	Congenital dyserythropoietic anemia type 4	GLikely pathogenic
Select item 100800	NM_006563.5(KLF1):c.895C>G (p.His299Asp)	KLF1, LOC117125591 (H299D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 56891	NM_006563.5(KLF1):c.892G>C (p.Ala298Pro)	KLF1, LOC117125591 (A298P)	Single nucleotide variant (missense variant)	not provided	GPathogenic

ClinVar