KLF1[gene] and "single gene"[properties] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328303	NM_006563.5(KLF1):c.*454C>G	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 328304	NM_006563.5(KLF1):c.*367C>G	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 889116	NM_006563.5(KLF1):c.*312G>C	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 328305	NM_006563.5(KLF1):c.*311A>G	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 328306	NM_006563.5(KLF1):c.*296G>A	KLF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328307	NM_006563.5(KLF1):c.*291A>G	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 328308	NM_006563.5(KLF1):c.*277C>T	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4 +1 more	GBenign
Select item 328309	NM_006563.5(KLF1):c.*263C>T	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4 +1 more	GUncertain significance
Select item 328310	NM_006563.5(KLF1):c.*254C>T	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 328311	NM_006563.5(KLF1):c.*185G>A	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 328312	NM_006563.5(KLF1):c.*22T>A	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 889805	NM_006563.5(KLF1):c.*2C>T	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 931601	NM_006563.5(KLF1):c.1079G>A (p.Arg360His)	KLF1 (R360H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2129029	NM_006563.5(KLF1):c.1077G>A (p.Lys359=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 40066	NM_006563.5(KLF1):c.1071C>A (p.His357Gln)	KLF1 (H357Q)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 2956656	NM_006563.5(KLF1):c.1064C>T (p.Ala355Val)	KLF1 (A355V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762425	NM_006563.5(KLF1):c.1059C>T (p.His353=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397697	NM_006563.5(KLF1):c.710G>A (p.Ser237Asn)	KLF1 (S237N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328313	NM_006563.5(KLF1):c.690C>T (p.Ala230=)	KLF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2898432	NM_006563.5(KLF1):c.681C>A (p.Pro227=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103572	NM_006563.5(KLF1):c.680C>T (p.Pro227Leu)	KLF1 (P227L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962295	NM_006563.5(KLF1):c.678G>A (p.Ala226=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891357	NM_006563.5(KLF1):c.676G>A (p.Ala226Thr)	KLF1 (A226T)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 1944677	NM_006563.5(KLF1):c.652C>G (p.Leu218Val)	KLF1 (L218V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909562	NM_006563.5(KLF1):c.650A>G (p.Gln217Arg)	KLF1 (Q217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693737	NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)	KLF1 (Q217*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328314	NM_006563.5(KLF1):c.629C>G (p.Pro210Arg)	KLF1 (P210R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2636178	NM_006563.5(KLF1):c.623C>A (p.Pro208Gln)	KLF1 (P208Q)	Single nucleotide variant (missense variant)	KLF1-related disorder	GUncertain significance
Select item 2045154	NM_006563.5(KLF1):c.609C>A (p.Tyr203Ter)	KLF1 (Y203*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1945608	NM_006563.5(KLF1):c.346T>G (p.Tyr116Asp)	KLF1 (Y116D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2072901	NM_006563.5(KLF1):c.333G>A (p.Glu111=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991304	NM_006563.5(KLF1):c.331G>A (p.Glu111Lys)	KLF1 (E111K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328320	NM_006563.5(KLF1):c.325C>T (p.Pro109Ser)	KLF1 (P109S)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4 +1 more	GBenign
Select item 3007578	NM_006563.5(KLF1):c.320C>T (p.Pro107Leu)	KLF1 (P107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328321	NM_006563.5(KLF1):c.311C>T (p.Ala104Val)	KLF1 (A104V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260001	NM_006563.5(KLF1):c.304T>C (p.Ser102Pro)	KLF1 (S102P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 328322	NM_006563.5(KLF1):c.286C>T (p.Leu96=)	KLF1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 1980826	NM_006563.5(KLF1):c.270G>T (p.Ala90=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328323	NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)	KLF1 (P87A)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4 +3 more	GConflicting classifications of pathogenicity
Select item 328324	NM_006563.5(KLF1):c.255G>A (p.Pro85=)	KLF1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 2762595	NM_006563.5(KLF1):c.254C>A (p.Pro85Gln)	KLF1 (P85Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242434	NM_006563.5(KLF1):c.251G>A (p.Gly84Asp)	KLF1 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2984672	NM_006563.5(KLF1):c.229CTC[2] (p.Leu79del)	KLF1 (L79del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2860926	NM_006563.5(KLF1):c.217T>C (p.Trp73Arg)	KLF1 (W73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3355435	NM_006563.5(KLF1):c.202G>C (p.Gly68Arg)	KLF1 (G68R)	Single nucleotide variant (missense variant)	KLF1-related disorder	GUncertain significance
Select item 2713811	NM_006563.5(KLF1):c.177C>T (p.Pro59=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009975	NM_006563.5(KLF1):c.171C>T (p.Asp57=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960129	NM_006563.5(KLF1):c.144G>A (p.Glu48=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358912	KLF1, PRO338THR	KLF1	Variation	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb	GPathogenic
Select item 3358911	KLF1, TRP30TER	KLF1	Variation	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb +1 more	GPathogenic; Affects
Select item 3358910	KLF1, GLN58TER	KLF1	Variation	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb	GPathogenic
Select item 3358909	KLF1, ARG301HIS	KLF1	Variation	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb +1 more	GPathogenic; Affects
Select item 3358908	KLF1, -154C-T	KLF1	Single nucleotide variant	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb	GPathogenic
Select item 3358907	KLF1, 7-BP INS, NT525	KLF1	Insertion	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 +1 more	GPathogenic; Affects
Select item 3358906	A298P	KLF1	Variation	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb	GPathogenic

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Items: 55