"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TFR2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21374	NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg)	TFR2 (G792R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GLikely pathogenic
Select item 696273	NM_003227.4(TFR2):c.2137-5C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GBenign/Likely benign
Select item 910743	NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln)	LOC113687175, TFR2 (R541Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1058194	NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys)	LOC113687175, TFR2 (E520K +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GUncertain significance
Select item 410076	NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr)	TFR2 (A510T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 910795	NM_003227.4(TFR2):c.1259G>A (p.Arg420His)	TFR2 (R249H +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 990092	NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser)	TFR2 (G244S +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GUncertain significance
Select item 576868	NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)	TFR2 (G373D +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +3 more	GUncertain significance
Select item 21378	NM_003227.4(TFR2):c.714C>G (p.Ile238Met)	TFR2 (I238M +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GBenign/Likely benign
Select item 872277	NM_003227.4(TFR2):c.381C>A (p.Asp127Glu)	TFR2 (D127E)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 1049075	NM_003227.4(TFR2):c.134C>T (p.Ala45Val)	TFR2 (A45V)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 21377	NM_003227.4(TFR2):c.64G>A (p.Val22Ile)	TFR2 (V22I)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance