ClinVar for Gene (Select 10661) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
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 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
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 3009975	NM_006563.5(KLF1):c.171C>T (p.Asp57=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2984672	NM_006563.5(KLF1):c.229CTC[2] (p.Leu79del)	KLF1 (L79del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2984377	NM_006563.5(KLF1):c.88-5C>T	KLF1, LOC117125592	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962295	NM_006563.5(KLF1):c.678G>A (p.Ala226=)	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 2957401	NM_006563.5(KLF1):c.914-12C>T	KLF1, LOC117125591	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2909562	NM_006563.5(KLF1):c.650A>G (p.Gln217Arg)	KLF1 (Q217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2898432	NM_006563.5(KLF1):c.681C>A (p.Pro227=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2762595	NM_006563.5(KLF1):c.254C>A (p.Pro85Gln)	KLF1 (P85Q)	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 2713811	NM_006563.5(KLF1):c.177C>T (p.Pro59=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2683794	NM_006563.3(KLF1):c.-149dup	KLF1, LOC117125592	Duplication	not provided	GUncertain significance
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 2636178	NM_006563.5(KLF1):c.623C>A (p.Pro208Gln)	KLF1 (P208Q)	Single nucleotide variant (missense variant)	KLF1-related disorder	GUncertain significance
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 2425590	NC_000019.9:g.(?_12917488)_(13010355_?)dup	DNASE2, GCDH +5 more	Duplication	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	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 2397697	NM_006563.5(KLF1):c.710G>A (p.Ser237Asn)	KLF1 (S237N)	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 2242434	NM_006563.5(KLF1):c.251G>A (p.Gly84Asp)	KLF1 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2129029	NM_006563.5(KLF1):c.1077G>A (p.Lys359=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2103572	NM_006563.5(KLF1):c.680C>T (p.Pro227Leu)	KLF1 (P227L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2072901	NM_006563.5(KLF1):c.333G>A (p.Glu111=)	KLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2045154	NM_006563.5(KLF1):c.609C>A (p.Tyr203Ter)	KLF1 (Y203*)	Single nucleotide variant (nonsense)	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 1991304	NM_006563.5(KLF1):c.331G>A (p.Glu111Lys)	KLF1 (E111K)	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 1980826	NM_006563.5(KLF1):c.270G>T (p.Ala90=)	KLF1	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 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 1944677	NM_006563.5(KLF1):c.652C>G (p.Leu218Val)	KLF1 (L218V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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