ClinVar for MedGen (Select 462276) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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)	LOC117125591, KLF1 (R346C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4	GUncertain significance
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 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 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 328325	NM_006563.5(KLF1):c.115A>C (p.Met39Leu)	KLF1, LOC117125592 (M39L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4 +1 more	GBenign
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 328323	NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)	KLF1 (P87A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 328320	NM_006563.5(KLF1):c.325C>T (p.Pro109Ser)	KLF1 (P109S)	Single nucleotide variant (missense variant)	not provided +2 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 +3 more	GConflicting classifications of pathogenicity
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 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=)	KLF1, LOC130063673	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia type 4 +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 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 328312	NM_006563.5(KLF1):c.*22T>A	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 328310	NM_006563.5(KLF1):c.*254C>T	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	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 328308	NM_006563.5(KLF1):c.*277C>T	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 328306	NM_006563.5(KLF1):c.*296G>A	KLF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 328303	NM_006563.5(KLF1):c.*454C>G	KLF1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GBenign
Select item 260001	NM_006563.5(KLF1):c.304T>C (p.Ser102Pro)	KLF1 (S102P)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type 4 +2 more	GBenign
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 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 56891	NM_006563.5(KLF1):c.892G>C (p.Ala298Pro)	KLF1, LOC117125591 (A298P)	Single nucleotide variant (missense variant)	not provided	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 2087	NM_000159.4(GCDH):c.91+5G>T	GCDH, KLF1 +1 more	Single nucleotide variant (intron variant)	BLOOD GROUP--LUTHERAN INHIBITOR +3 more	GPathogenic

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Items: 41