"Ambry Genetics"[submitter] AND "TFRC"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1930117	NM_001128148.3(TFRC):c.2193C>G (p.Phe731Leu)	TFRC (F731L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2144188	NM_001128148.3(TFRC):c.2155C>T (p.Arg719Cys)	TFRC (R719C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3325662	NM_001128148.3(TFRC):c.2146T>A (p.Leu716Met)	TFRC (L635M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404996	NM_001128148.3(TFRC):c.1981G>A (p.Gly661Arg)	TFRC (G379R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1947922	NM_001128148.3(TFRC):c.1839G>T (p.Arg613Ser)	TFRC (R613S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2318643	NM_001128148.3(TFRC):c.1805C>G (p.Thr602Ser)	TFRC (T320S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176574	NM_001128148.3(TFRC):c.1615A>G (p.Asn539Asp)	TFRC (N458D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445511	NM_001128148.3(TFRC):c.1575C>G (p.Asp525Glu)	TFRC (D243E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2519211	NM_001128148.3(TFRC):c.1511C>A (p.Thr504Lys)	TFRC (T423K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1397739	NM_001128148.3(TFRC):c.1511C>T (p.Thr504Met)	TFRC (T222M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1390235	NM_001128148.3(TFRC):c.1406G>A (p.Gly469Glu)	TFRC (G187E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2223292	NM_001128148.3(TFRC):c.1288G>A (p.Ala430Thr)	TFRC (A148T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287343	NM_001128148.3(TFRC):c.1213G>T (p.Val405Phe)	TFRC (V324F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528671	NM_001128148.3(TFRC):c.1205A>G (p.Tyr402Cys)	TFRC (Y120C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2759134	NM_001128148.3(TFRC):c.1055A>C (p.Asp352Ala)	TFRC (D352A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1396837	NM_001128148.3(TFRC):c.904C>T (p.His302Tyr)	TFRC (H20Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2299464	NM_001128148.3(TFRC):c.901G>A (p.Ala301Thr)	TFRC (A19T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365416	NM_001128148.3(TFRC):c.891C>A (p.Phe297Leu)	TFRC (F216L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1423701	NM_001128148.3(TFRC):c.877G>A (p.Ala293Thr)	TFRC (A212T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2403699	NM_001128148.3(TFRC):c.829A>G (p.Ile277Val)	TFRC (I196V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1400474	NM_001128148.3(TFRC):c.821T>C (p.Leu274Ser)	TFRC (L193S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3176575	NM_001128148.3(TFRC):c.818G>C (p.Ser273Thr)	TFRC (S273T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218347	NM_001128148.3(TFRC):c.742A>C (p.Thr248Pro)	TFRC (T248P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1969586	NM_001128148.3(TFRC):c.586G>A (p.Ala196Thr)	TFRC (A115T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2457285	NM_001128148.3(TFRC):c.491A>G (p.Asn164Ser)	TFRC (N164S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1958873	NM_001128148.3(TFRC):c.464G>A (p.Arg155His)	TFRC (R155H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2984699	NM_001128148.3(TFRC):c.395C>T (p.Ser132Leu)	TFRC (S51L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2454187	NM_001128148.3(TFRC):c.305C>A (p.Ala102Glu)	TFRC (A102E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454182	NM_001128148.3(TFRC):c.304G>A (p.Ala102Thr)	TFRC (A21T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296465	NM_001128148.3(TFRC):c.247A>T (p.Ile83Phe)	TFRC (I83F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2997999	NM_001128148.3(TFRC):c.214G>T (p.Ala72Ser)	TFRC (A72S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 31