"GeneReviews"[submitter] AND "TFR2"[gene] - ClinVar

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Items: 25

	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 21372	NM_003227.4(TFR2):c.2228C>T (p.Ala743Val)	TFR2 (A743V +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	Gnot provided
Select item 21371	NM_003227.4(TFR2):c.2137-1G>A	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 5384	NM_003227.4(TFR2):c.2069A>C (p.Gln690Pro)	LOC113687175, TFR2 (Q690P +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GPathogenic
Select item 21370	NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])	TFR2	Microsatellite (inframe_deletion)	Hereditary hemochromatosis +1 more	GPathogenic
Select item 21369	NM_003227.4(TFR2):c.1851C>T (p.Ala617=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +3 more	GBenign
Select item 21368	NM_003227.4(TFR2):c.1770C>T (p.Asp590=)	TFR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 21367	NM_003227.4(TFR2):c.1665del (p.Ser556fs)	TFR2 (S556fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3	Gnot provided
Select item 21366	NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg)	TFR2 (L490R +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	Gnot provided
Select item 21365	NM_003227.4(TFR2):c.1403G>A (p.Arg468His)	TFR2 (R468H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5383	NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)	TFR2 (R455Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 21364	NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)	TFR2 (A444T +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GConflicting classifications of pathogenicity
Select item 21363	NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del)	TFR2 (N412del +1 more)	Microsatellite (inframe_deletion)	Hemochromatosis type 3	GLikely pathogenic
Select item 21362	NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter)	TFR2 (R396* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic
Select item 21379	NM_003227.4(TFR2):c.949C>T (p.Gln317Ter)	TFR2 (Q317* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	Gnot provided
Select item 5380	NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter)	TFR2 (Y250* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GPathogenic
Select item 21378	NM_003227.4(TFR2):c.714C>G (p.Ile238Met)	TFR2 (I238M +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +2 more	GBenign/Likely benign
Select item 5382	NM_003227.4(TFR2):c.515T>A (p.Met172Lys)	TFR2 (M172K +1 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 3	GPathogenic
Select item 21376	NM_003227.4(TFR2):c.473+49C>A	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3	Gnot provided
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
Select item 21373	NM_003227.4(TFR2):c.224C>T (p.Ala75Val)	TFR2 (A75V)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 21380	NM_003227.4(TFR2):c.97C>A (p.His33Asn)	TFR2 (H33N)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	Gnot provided
Select item 5381	NM_003227.4(TFR2):c.88dup (p.Arg30fs)	TFR2 (R30fs)	Duplication (frameshift variant)	Hereditary hemochromatosis	GPathogenic
Select item 21377	NM_003227.4(TFR2):c.64G>A (p.Val22Ile)	TFR2 (V22I)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 25