10661[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
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)	not provided +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	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)	BLOOD GROUP--LUTHERAN INHIBITOR	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 891353	NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)	LOC117125591, KLF1 (R346C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	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 2649355	NM_006563.5(KLF1):c.1025A>T (p.Gln342Leu)	KLF1, LOC117125591 (Q342L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 100797	NM_006563.5(KLF1):c.1022G>A (p.Cys341Tyr)	KLF1, LOC117125591 (C341Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2397572	NM_006563.5(KLF1):c.1019G>A (p.Arg340His)	KLF1, LOC117125591 (R340H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 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)	not provided +2 more	GPathogenic
Select item 8999	NM_006563.5(KLF1):c.954dup (p.Arg319fs)	KLF1, LOC117125591 (R319fs)	Duplication (frameshift variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
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 1707979	NM_006563.5(KLF1):c.952T>C (p.Trp318Arg)	KLF1, LOC117125591 (W318R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3007283	NM_006563.5(KLF1):c.936G>T (p.Thr312=)	KLF1, LOC117125591	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 2418177	NM_006563.5(KLF1):c.914-7C>T	KLF1, LOC117125591	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3037035	NM_006563.5(KLF1):c.914-12_914-9del	KLF1, LOC117125591	Deletion (intron variant)	KLF1-related condition	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 1926104	NM_006563.5(KLF1):c.913+18dup	KLF1, LOC117125591	Duplication (intron variant)	not provided	GBenign
Select item 2851017	NM_006563.5(KLF1):c.913+13G>A	KLF1, LOC117125591	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 100800	NM_006563.5(KLF1):c.895C>G (p.His299Asp)	KLF1, LOC117125591 (H299D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2038798	NM_006563.5(KLF1):c.894G>T (p.Ala298=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 9001	NM_006563.5(KLF1):c.874A>T (p.Lys292Ter)	KLF1, LOC117125591 (K292*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
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 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 2836125	NM_006563.5(KLF1):c.854G>A (p.Gly285Asp)	KLF1, LOC117125591 (G285D)	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 1961502	NM_006563.5(KLF1):c.810G>A (p.Ser270=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 803524	NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)	KLF1, LOC117125591 (S270W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1910660	NM_006563.5(KLF1):c.786G>A (p.Ala262=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1924965	NM_006563.5(KLF1):c.784G>T (p.Ala262Ser)	KLF1, LOC117125591 (A262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2870586	NM_006563.5(KLF1):c.750G>A (p.Gly250=)	KLF1, LOC117125591	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 2747936	NM_006563.5(KLF1):c.744C>T (p.Leu248=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2717134	NM_006563.5(KLF1):c.726G>A (p.Gly242=)	KLF1, LOC117125591	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)	Congenital dyserythropoietic anemia type 4 +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)	KLF1-related condition +1 more	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 condition	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 328315	NM_006563.5(KLF1):c.606G>A (p.Gly202=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia type 4 +1 more	GConflicting classifications of pathogenicity
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 2954901	NM_006563.5(KLF1):c.579G>A (p.Ser193=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 9000	NM_006563.5(KLF1):c.569del (p.Pro190fs)	KLF1, LOC130063673 (P190fs)	Deletion (frameshift variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 2628472	NM_006563.5(KLF1):c.556G>A (p.Gly186Arg)	KLF1, LOC130063673 (G186R)	Single nucleotide variant (missense variant)	KLF1-related condition	GUncertain significance
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 892550	NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn)	KLF1, LOC130063673 (Y181N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 100799	NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)	KLF1, LOC130063673 (G176fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 328317	NM_006563.5(KLF1):c.520G>T (p.Gly174Cys)	KLF1, LOC130063673 (G174C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 2892298	NM_006563.5(KLF1):c.495G>A (p.Ala165=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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