C1858664[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	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)	Hemochromatosis type 3 +2 more	GLikely pathogenic
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 2438477	NM_003227.4(TFR2):c.2093_2096del (p.Arg698fs)	LOC113687175, TFR2 (R527fs +1 more)	Microsatellite (frameshift variant)	Hemochromatosis type 3	GPathogenic
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
Select item 2434130	NM_003227.4(TFR2):c.1996-2A>C	LOC113687175, TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 1323686	NM_003227.4(TFR2):c.1768-1G>A	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GPathogenic
Select item 21375	NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)	TFR2 (R105*)	Single nucleotide variant (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic

ClinVar