Related gene-specific medical variations for Gene (Select 10661) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358912	NM_006563.5(KLF1):c.1012C>A (p.Pro338Thr)	KLF1, LOC117125591	Single nucleotide variant (missense variant)	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb	GPathogenic
Select item 3358911	KLF1, TRP30TER	KLF1	Variation	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb +1 more	GPathogenic; Affects
Select item 3358909	NM_006563.5(KLF1):c.902G>A (p.Arg301His)	KLF1, LOC117125591	Single nucleotide variant (missense variant)	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 +1 more	GPathogenic; Affects
Select item 3358908	KLF1, -154C-T	KLF1	Single nucleotide variant	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb	GPathogenic
Select item 3288801	NM_006563.5(KLF1):c.839C>T (p.Thr280Met)	KLF1, LOC117125591 (T280M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288800	NM_006563.5(KLF1):c.538G>C (p.Gly180Arg)	KLF1, LOC130063673 (G180R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252231	NM_006563.5(KLF1):c.900_903dup (p.Thr302fs)	KLF1, LOC117125591 (T302fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3242138	NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)	KLF1, LOC130063673 (P196L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 3115260	NM_006563.5(KLF1):c.728C>T (p.Thr243Met)	KLF1, LOC117125591 (T243M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046726	NM_006563.5(KLF1):c.88-4G>A	KLF1, LOC117125592	Single nucleotide variant (intron variant)	KLF1-related disorder	GLikely benign
Select item 3043194	NM_006563.5(KLF1):c.-1C>T	KLF1, LOC117125592	Single nucleotide variant (5 prime UTR variant)	KLF1-related disorder	GLikely benign
Select item 3037035	NM_006563.5(KLF1):c.914-12_914-9del	KLF1, LOC117125591	Deletion (intron variant)	KLF1-related disorder	GLikely benign
Select item 3031027	NM_006563.5(KLF1):c.384T>G (p.Gly128=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	KLF1-related disorder	GLikely benign
Select item 3018468	NM_006563.5(KLF1):c.72G>T (p.Gln24His)	KLF1, LOC117125592 (Q24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012098	NM_006563.5(KLF1):c.785C>G (p.Ala262Gly)	KLF1, LOC117125591 (A262G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007283	NM_006563.5(KLF1):c.936G>T (p.Thr312=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006420	NM_006563.5(KLF1):c.100G>A (p.Glu34Lys)	KLF1, LOC117125592 (E34K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991096	NM_006563.5(KLF1):c.504G>A (p.Pro168=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984377	NM_006563.5(KLF1):c.88-5C>T	KLF1, LOC117125592	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957401	NM_006563.5(KLF1):c.914-12C>T	KLF1, LOC117125591	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954901	NM_006563.5(KLF1):c.579G>A (p.Ser193=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912527	NM_006563.5(KLF1):c.534G>T (p.Ser178=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901519	NM_006563.5(KLF1):c.928G>C (p.Ala310Pro)	KLF1, LOC117125591 (A310P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892298	NM_006563.5(KLF1):c.495G>A (p.Ala165=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889569	NM_006563.5(KLF1):c.773T>C (p.Ile258Thr)	KLF1, LOC117125591 (I258T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885152	NM_006563.5(KLF1):c.16A>T (p.Thr6Ser)	KLF1, LOC117125592 (T6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880212	NM_006563.5(KLF1):c.123G>A (p.Pro41=)	KLF1, LOC117125592	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870586	NM_006563.5(KLF1):c.750G>A (p.Gly250=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851757	NM_006563.5(KLF1):c.87+1G>A	KLF1, LOC117125592	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2851017	NM_006563.5(KLF1):c.913+13G>A	KLF1, LOC117125591	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841380	NM_006563.5(KLF1):c.948C>A (p.Cys316Ter)	KLF1, LOC117125591 (C316*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2836125	NM_006563.5(KLF1):c.854G>A (p.Gly285Asp)	KLF1, LOC117125591 (G285D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826566	NM_006563.5(KLF1):c.449G>A (p.Gly150Asp)	KLF1, LOC130063673 (G150D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797163	NM_006563.5(KLF1):c.493G>T (p.Ala165Ser)	KLF1, LOC130063673 (A165S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747936	NM_006563.5(KLF1):c.744C>T (p.Leu248=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719948	NM_006563.5(KLF1):c.489G>A (p.Ala163=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717134	NM_006563.5(KLF1):c.726G>A (p.Gly242=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683480	NM_006563.5(KLF1):c.443T>G (p.Phe148Cys)	KLF1, LOC130063673 (F148C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649355	NM_006563.5(KLF1):c.1025A>T (p.Gln342Leu)	KLF1, LOC117125591 (Q342L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2630623	NM_006563.5(KLF1):c.109C>A (p.Gln37Lys)	KLF1, LOC117125592 (Q37K)	Single nucleotide variant (missense variant)	KLF1-related disorder	GUncertain significance
Select item 2628472	NM_006563.5(KLF1):c.556G>A (p.Gly186Arg)	KLF1, LOC130063673 (G186R)	Single nucleotide variant (missense variant)	KLF1-related disorder	GUncertain significance
Select item 2557261	NM_006563.5(KLF1):c.520G>A (p.Gly174Ser)	KLF1, LOC130063673 (G174S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546124	NM_006563.5(KLF1):c.493G>A (p.Ala165Thr)	KLF1, LOC130063673 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505683	NM_006563.5(KLF1):c.978G>A (p.Leu326=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2428948	NM_006563.5(KLF1):c.424G>A (p.Ala142Thr)	KLF1, LOC130063673 (A142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418177	NM_006563.5(KLF1):c.914-7C>T	KLF1, LOC117125591	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2397749	NM_006563.5(KLF1):c.752C>T (p.Thr251Ile)	KLF1, LOC117125591 (T251I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397572	NM_006563.5(KLF1):c.1019G>A (p.Arg340His)	KLF1, LOC117125591 (R340H)	Single nucleotide variant (missense variant)	KLF1-related disorder +1 more	GUncertain significance
Select item 2353910	NM_006563.5(KLF1):c.905C>A (p.Thr302Lys)	KLF1, LOC117125591 (T302K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182938	NM_006563.5(KLF1):c.1026G>C (p.Gln342His)	KLF1, LOC117125591 (Q342H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126282	NM_006563.5(KLF1):c.402T>C (p.Gly134=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095055	NM_006563.5(KLF1):c.431C>A (p.Ala144Asp)	KLF1, LOC130063673 (A144D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072153	NM_006563.5(KLF1):c.851C>T (p.Pro284Leu)	KLF1, LOC117125591 (P284L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064376	NM_006563.5(KLF1):c.406del (p.Val136fs)	KLF1, LOC130063673 (V136fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2038798	NM_006563.5(KLF1):c.894G>T (p.Ala298=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1993757	NM_006563.5(KLF1):c.1024C>G (p.Gln342Glu)	KLF1, LOC117125591 (Q342E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985147	NM_006563.5(KLF1):c.45C>T (p.Thr15=)	KLF1, LOC117125592	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976958	NM_006563.5(KLF1):c.750G>T (p.Gly250=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961502	NM_006563.5(KLF1):c.810G>A (p.Ser270=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936729	NM_006563.5(KLF1):c.368T>A (p.Val123Glu)	KLF1, LOC130063673 (V123E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1930742	NM_006563.5(KLF1):c.-3_7del (p.Met1fs)	KLF1, LOC117125592 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1926104	NM_006563.5(KLF1):c.913+18dup	KLF1, LOC117125591	Duplication (intron variant)	not provided	GBenign
Select item 1924965	NM_006563.5(KLF1):c.784G>T (p.Ala262Ser)	KLF1, LOC117125591 (A262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922577	NM_006563.5(KLF1):c.425C>T (p.Ala142Val)	KLF1, LOC130063673 (A142V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919687	NM_006563.5(KLF1):c.88-16C>T	KLF1, LOC117125592	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915264	NM_006563.5(KLF1):c.453A>G (p.Pro151=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910660	NM_006563.5(KLF1):c.786G>A (p.Ala262=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1707979	NM_006563.5(KLF1):c.952T>C (p.Trp318Arg)	KLF1, LOC117125591 (W318R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693736	NM_006563.5(KLF1):c.864G>A (p.Lys288=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 892551	NM_006563.5(KLF1):c.409C>T (p.Arg137Cys)	KLF1, LOC130063673 (R137C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 892550	NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn)	KLF1, LOC130063673 (Y181N)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4 +2 more	GConflicting classifications of pathogenicity
Select item 891356	NM_006563.5(KLF1):c.757G>A (p.Glu253Lys)	KLF1, LOC117125591 (E253K)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 891355	NM_006563.5(KLF1):c.803G>T (p.Arg268Leu)	KLF1, LOC117125591 (R268L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891354	NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser)	KLF1, LOC117125591 (F339S)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 891353	NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)	KLF1, LOC117125591 (R346C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 889191	NM_006563.5(KLF1):c.-43G>A	KLF1, LOC117125592	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GLikely benign
Select item 803524	NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)	KLF1, LOC117125591 (S270W)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR +1 more	GConflicting classifications of pathogenicity
Select item 784830	NM_006563.5(KLF1):c.19G>A (p.Ala7Thr)	KLF1, LOC117125592 (A7T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 518459	NM_006563.5(KLF1):c.421C>T (p.Arg141Ter)	KLF1, LOC130063673 (R141*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN INHIBITOR	GAffects
Select item 328325	NM_006563.5(KLF1):c.115A>C (p.Met39Leu)	KLF1, LOC117125592 (M39L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 328319	NM_006563.5(KLF1):c.353G>A (p.Gly118Asp)	KLF1, LOC130063673 (G118D)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
Select item 328318	NM_006563.5(KLF1):c.478G>A (p.Glu160Lys)	KLF1, LOC130063673 (E160K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 328317	NM_006563.5(KLF1):c.520G>T (p.Gly174Cys)	KLF1, LOC130063673 (G174C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 328316	NM_006563.5(KLF1):c.544T>C (p.Phe182Leu)	KLF1, LOC130063673 (F182L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4 +1 more	GBenign
Select item 328315	NM_006563.5(KLF1):c.606G>A (p.Gly202=)	LOC130063673, KLF1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia type 4 +1 more	GConflicting classifications of pathogenicity
Select item 253309	NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)	KLF1, LOC117125591 (W318C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 100799	NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)	LOC130063673, KLF1 (G176fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 100798	NM_006563.5(KLF1):c.13G>A (p.Glu5Lys)	KLF1, LOC117125592 (E5K)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GBenign
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 100796	NM_006563.5(KLF1):c.1001C>G (p.Thr334Arg)	KLF1, LOC117125591 (T334R)	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)	Congenital dyserythropoietic anemia type 4 +2 more	GPathogenic
Select item 56891	NM_006563.5(KLF1):c.892G>C (p.Ala298Pro)	KLF1, LOC117125591 (A298P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 40067	NM_006563.5(KLF1):c.591C>G (p.Tyr197Ter)	KLF1, LOC130063673 (Y197*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 40065	NM_006563.5(KLF1):c.977T>G (p.Leu326Arg)	KLF1, LOC117125591 (L326R)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 18447	NM_006563.5(KLF1):c.973G>A (p.Glu325Lys)	KLF1, LOC117125591 (E325K)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR +2 more	GPathogenic
Select item 9003	NM_006563.5(KLF1):c.862A>T (p.Lys288Ter)	KLF1, LOC117125591 (K288*)	Single nucleotide variant (nonsense)	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6	GAffects
Select item 9002	NM_006563.5(KLF1):c.895C>T (p.His299Tyr)	KLF1, LOC117125591 (H299Y)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 9001	NM_006563.5(KLF1):c.874A>T (p.Lys292Ter)	KLF1, LOC117125591 (K292*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic

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