ClinVar for MedGen (Select 462276) - ClinVar

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Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8925511.	NM_006563.5(KLF1):c.409C>T (p.Arg137Cys) GRCh37: Chr19:12996635 GRCh38: Chr19:12885821	KLF1	R137C	Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8925502.	NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) GRCh37: Chr19:12996503 GRCh38: Chr19:12885689	KLF1	Y181N	Inborn genetic diseases, Congenital dyserythropoietic anemia type 4, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 8913573.	NM_006563.5(KLF1):c.676G>A (p.Ala226Thr) GRCh37: Chr19:12996368 GRCh38: Chr19:12885554	KLF1	A226T	Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 8913564.	NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) GRCh37: Chr19:12996287 GRCh38: Chr19:12885473	KLF1, LOC117125591	E253K	Congenital dyserythropoietic anemia type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8913555.	NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) GRCh37: Chr19:12996241 GRCh38: Chr19:12885427	KLF1, LOC117125591	R268L	not provided, Congenital dyserythropoietic anemia type 4	Conflicting interpretations of pathogenicity (Jun 17, 2022)	criteria provided, conflicting interpretations
Select item 8913546.	NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser) GRCh37: Chr19:12995772 GRCh38: Chr19:12884958	KLF1, LOC117125591	F339S	Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8913537.	NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys) GRCh37: Chr19:12995752 GRCh38: Chr19:12884938	LOC117125591, KLF1	R346C	Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8898058.	NM_006563.5(KLF1):c.*2C>T GRCh37: Chr19:12995697 GRCh38: Chr19:12884883	KLF1		Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8891919.	NM_006563.5(KLF1):c.-43G>A GRCh37: Chr19:12997997 GRCh38: Chr19:12887183	KLF1, LOC117125592		Congenital dyserythropoietic anemia type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88911610.	NM_006563.5(KLF1):c.*312G>C GRCh37: Chr19:12995387 GRCh38: Chr19:12884573	KLF1		Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32832511.	NM_006563.5(KLF1):c.115A>C (p.Met39Leu) GRCh37: Chr19:12996929 GRCh38: Chr19:12886115	KLF1, LOC117125592	M39L	Congenital dyserythropoietic anemia type 4, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32832412.	NM_006563.5(KLF1):c.255G>A (p.Pro85=) GRCh37: Chr19:12996789 GRCh38: Chr19:12885975	KLF1		Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32832313.	NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) GRCh37: Chr19:12996785 GRCh38: Chr19:12885971	KLF1	P87A	Congenital dyserythropoietic anemia type 4, Fetal hemoglobin quantitative trait locus 6, BLOOD GROUP--LUTHERAN INHIBITOR, Congenital dyserythropoietic anemia type 4, not provided	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 32832214.	NM_006563.5(KLF1):c.286C>T (p.Leu96=) GRCh37: Chr19:12996758 GRCh38: Chr19:12885944	KLF1		Congenital dyserythropoietic anemia type 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32832115.	NM_006563.5(KLF1):c.311C>T (p.Ala104Val) GRCh37: Chr19:12996733 GRCh38: Chr19:12885919	KLF1	A104V	Congenital dyserythropoietic anemia type 4, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 32832016.	NM_006563.5(KLF1):c.325C>T (p.Pro109Ser) GRCh37: Chr19:12996719 GRCh38: Chr19:12885905	KLF1	P109S	Congenital dyserythropoietic anemia type 4, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32831917.	NM_006563.5(KLF1):c.353G>A (p.Gly118Asp) GRCh37: Chr19:12996691 GRCh38: Chr19:12885877	KLF1	G118D	Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32831818.	NM_006563.5(KLF1):c.478G>A (p.Glu160Lys) GRCh37: Chr19:12996566 GRCh38: Chr19:12885752	KLF1	E160K	Inborn genetic diseases, Congenital dyserythropoietic anemia type 4, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32831719.	NM_006563.5(KLF1):c.520G>T (p.Gly174Cys) GRCh37: Chr19:12996524 GRCh38: Chr19:12885710	KLF1	G174C	Congenital dyserythropoietic anemia type 4, not provided	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32831620.	NM_006563.5(KLF1):c.544T>C (p.Phe182Leu) GRCh37: Chr19:12996500 GRCh38: Chr19:12885686	KLF1	F182L	Congenital dyserythropoietic anemia type 4, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32831521.	NM_006563.5(KLF1):c.606G>A (p.Gly202=) GRCh37: Chr19:12996438 GRCh38: Chr19:12885624	KLF1		Congenital dyserythropoietic anemia type 4, not provided	Conflicting interpretations of pathogenicity (May 23, 2022)	criteria provided, conflicting interpretations
Select item 32831422.	NM_006563.5(KLF1):c.629C>G (p.Pro210Arg) GRCh37: Chr19:12996415 GRCh38: Chr19:12885601	KLF1	P210R	Congenital dyserythropoietic anemia type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32831323.	NM_006563.5(KLF1):c.690C>T (p.Ala230=) GRCh37: Chr19:12996354 GRCh38: Chr19:12885540	KLF1		Congenital dyserythropoietic anemia type 4, not provided	Conflicting interpretations of pathogenicity (Mar 20, 2022)	criteria provided, conflicting interpretations
Select item 32831224.	NM_006563.5(KLF1):c.*22T>A GRCh37: Chr19:12995677 GRCh38: Chr19:12884863	KLF1		Congenital dyserythropoietic anemia type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32831125.	NM_006563.5(KLF1):c.*185G>A GRCh37: Chr19:12995514 GRCh38: Chr19:12884700	KLF1		Congenital dyserythropoietic anemia type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32831026.	NM_006563.5(KLF1):c.*254C>T GRCh37: Chr19:12995445 GRCh38: Chr19:12884631	KLF1		Congenital dyserythropoietic anemia type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32830927.	NM_006563.5(KLF1):c.*263C>T GRCh37: Chr19:12995436 GRCh38: Chr19:12884622	KLF1		Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32830828.	NM_006563.5(KLF1):c.*277C>T GRCh37: Chr19:12995422 GRCh38: Chr19:12884608	KLF1		Congenital dyserythropoietic anemia type 4, not provided	Benign (Jun 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32830729.	NM_006563.5(KLF1):c.*291A>G GRCh37: Chr19:12995408 GRCh38: Chr19:12884594	KLF1		Congenital dyserythropoietic anemia type 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32830630.	NM_006563.5(KLF1):c.*296G>A GRCh37: Chr19:12995403 GRCh38: Chr19:12884589	KLF1		Congenital dyserythropoietic anemia type 4, not provided	Benign (Jun 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32830531.	NM_006563.5(KLF1):c.*311A>G GRCh37: Chr19:12995388 GRCh38: Chr19:12884574	KLF1		Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32830432.	NM_006563.5(KLF1):c.*367C>G GRCh37: Chr19:12995332 GRCh38: Chr19:12884518	KLF1		Congenital dyserythropoietic anemia type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32830333.	NM_006563.5(KLF1):c.*454C>G GRCh37: Chr19:12995245 GRCh38: Chr19:12884431	KLF1		Congenital dyserythropoietic anemia type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 26000134.	NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) GRCh37: Chr19:12996740 GRCh38: Chr19:12885926	KLF1	S102P	not specified, Congenital dyserythropoietic anemia type 4, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5689235.	NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser) GRCh37: Chr19:12995776 GRCh38: Chr19:12884962	KLF1, LOC117125591	P338S	BLOOD GROUP--LUTHERAN INHIBITOR, Congenital dyserythropoietic anemia type 4, Fetal hemoglobin quantitative trait locus 6	Pathogenic	no assertion criteria provided
Select item 5689136.	NM_006563.5(KLF1):c.892G>C (p.Ala298Pro) GRCh37: Chr19:12996152 GRCh38: Chr19:12885338	KLF1, LOC117125591	A298P	BLOOD GROUP--LUTHERAN INHIBITOR, Congenital dyserythropoietic anemia type 4, Fetal hemoglobin quantitative trait locus 6	Pathogenic	no assertion criteria provided
Select item 1844737.	NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) GRCh37: Chr19:12995815 GRCh38: Chr19:12885001	KLF1, LOC117125591	E325K	not provided, Congenital dyserythropoietic anemia type 4, BLOOD GROUP--LUTHERAN INHIBITOR	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 208738.	NM_000159.4(GCDH):c.91+5G>T GRCh37: Chr19:13002214 GRCh38: Chr19:12891400	GCDH, KLF1, LOC117125594		Glutaric aciduria, type 1, BLOOD GROUP--LUTHERAN INHIBITOR, Fetal hemoglobin quantitative trait locus 6, Congenital dyserythropoietic anemia type 4	Pathogenic (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 38