"Baylor Genetics"[submitter] AND "LOC113687175"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679157	NM_003227.4(TFR2):c.2136+2T>A	LOC113687175, TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 1405162	NM_003227.4(TFR2):c.2136+1G>A	LOC113687175, TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 961267	NM_003227.4(TFR2):c.2128_2132del (p.Ile710fs)	LOC113687175, TFR2 (I710fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 802342	NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)	LOC113687175, TFR2 (R530* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +2 more	GPathogenic/Likely pathogenic
Select item 2438477	NM_003227.4(TFR2):c.2093_2096del (p.Arg698fs)	LOC113687175, TFR2 (R527fs +1 more)	Microsatellite (frameshift variant)	Hemochromatosis type 3	GPathogenic
Select item 1075084	NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs)	LOC113687175, TFR2 (D528fs +1 more)	Microsatellite (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 2679153	NM_003227.4(TFR2):c.2056G>T (p.Glu686Ter)	LOC113687175, TFR2 (E515* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 854136	NM_003227.4(TFR2):c.2038dup (p.Asp680fs)	LOC113687175, TFR2 (D509fs +1 more)	Duplication (frameshift variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 188153	NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro)	LOC113687175, TFR2 (R678P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GLikely pathogenic
Select item 839335	NM_003227.4(TFR2):c.2025C>G (p.Tyr675Ter)	LOC113687175, TFR2 (Y675* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 632495	NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)	LOC113687175, TFR2 (Q672* +1 more)	Single nucleotide variant (nonsense)	TFR2-related disorder +2 more	GConflicting classifications of pathogenicity