"Baylor Genetics"[submitter] AND "TFR2"[gene] - ClinVar

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Items: 70

	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 859038	NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter)	TFR2 (W610* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 2679156	NM_003227.4(TFR2):c.2318_2324delinsTGGAAACG (p.Arg773fs)	TFR2 (R602fs +1 more)	Indel (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 1072553	NM_003227.4(TFR2):c.2236dup (p.Asp746fs)	TFR2 (D575fs +1 more)	Duplication (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 1440812	NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs)	TFR2 (A572fs +1 more)	Microsatellite (frameshift variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2679165	NM_003227.4(TFR2):c.2227del (p.Ala743fs)	TFR2 (A572fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 944552	NM_003227.4(TFR2):c.2183dup (p.Phe729fs)	TFR2 (F558fs +1 more)	Duplication (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 3240592	NM_003227.4(TFR2):c.2168C>A (p.Ser723Ter)	TFR2 (S552* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
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 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
Select item 2679147	NM_003227.4(TFR2):c.1995+2T>A	TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 3240587	NM_003227.4(TFR2):c.1995+1G>T	TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679168	NM_003227.4(TFR2):c.1921del (p.Leu641fs)	TFR2 (L470fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 21370	NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])	TFR2	Microsatellite (inframe_deletion)	Hereditary hemochromatosis +1 more	GPathogenic
Select item 582071	NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter)	TFR2 (Q624* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic
Select item 857035	NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter)	TFR2 (Y433* +1 more)	Duplication (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2679161	NM_003227.4(TFR2):c.1793dup (p.His598fs)	TFR2 (H427fs +1 more)	Duplication (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 1065995	NM_003227.4(TFR2):c.1767+1G>T	TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3 +1 more	GLikely pathogenic
Select item 2679154	NM_003227.4(TFR2):c.1682+1G>T	TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 570407	NM_003227.4(TFR2):c.1606-2A>G	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3 +1 more	GPathogenic
Select item 2679162	NM_003227.4(TFR2):c.1606-8A>G	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2195116	NM_003227.4(TFR2):c.1474-1G>A	TFR2	Single nucleotide variant (splice acceptor variant)	Hereditary hemochromatosis +1 more	GLikely pathogenic
Select item 1926610	NM_003227.4(TFR2):c.1470del (p.Glu491fs)	TFR2 (E320fs +1 more)	Deletion (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 2679169	NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)	TFR2 (W318* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 461197	NM_003227.4(TFR2):c.1398del (p.Arg468fs)	TFR2 (R468fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2679167	NM_003227.4(TFR2):c.1390+2dup	TFR2	Duplication (splice donor variant)	Hemochromatosis type 3	GLikely pathogenic
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 3240596	NM_003227.4(TFR2):c.1308G>A (p.Trp436Ter)	TFR2 (W265* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 810145	NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg)	TFR2 (G259R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 3240591	NM_003227.4(TFR2):c.1271-1G>A	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GLikely pathogenic
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 2581661	NM_003227.4(TFR2):c.1235A>T (p.Asn412Ile)	TFR2 (N241I +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
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 2418037	NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs)	TFR2 (Q186fs +1 more)	Microsatellite (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 2679158	NM_003227.4(TFR2):c.1069C>T (p.Gln357Ter)	TFR2 (Q186* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679149	NM_003227.4(TFR2):c.1046C>G (p.Ser349Ter)	TFR2 (S178* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 3240593	NM_003227.4(TFR2):c.880G>T (p.Gly294Ter)	TFR2 (G123* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 1073644	NM_003227.4(TFR2):c.862C>T (p.Gln288Ter)	TFR2 (Q117* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 3240594	NM_003227.4(TFR2):c.754_763delinsGCGTAC (p.Arg252fs)	TFR2 (R252fs +1 more)	Indel (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679159	NM_003227.4(TFR2):c.741C>G (p.Tyr247Ter)	TFR2 (Y247* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 3240595	NM_003227.4(TFR2):c.727G>T (p.Gly243Ter)	TFR2 (G243* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 1076276	NM_003227.4(TFR2):c.661G>T (p.Gly221Ter)	TFR2 (G221* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 2679148	NM_003227.4(TFR2):c.651del (p.Lys219fs)	TFR2 (K219fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679150	NM_003227.4(TFR2):c.591C>G (p.Tyr197Ter)	TFR2 (Y197* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 2143093	NM_003227.4(TFR2):c.523_524del (p.Leu175fs)	TFR2 (L175fs +1 more)	Microsatellite (frameshift variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 3240588	NM_003227.4(TFR2):c.443dup (p.Glu150fs)	TFR2 (E150fs)	Duplication (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679163	NM_003227.4(TFR2):c.410G>A (p.Trp137Ter)	TFR2 (W137*)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 1072555	NM_003227.4(TFR2):c.405_406del (p.Tyr136fs)	TFR2 (Y136fs)	Microsatellite (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
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 2679155	NM_003227.4(TFR2):c.287-2A>G	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 3240590	NM_003227.4(TFR2):c.219del (p.Trp74fs)	TFR2 (W74fs)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679164	NM_003227.4(TFR2):c.193del (p.Arg65fs)	TFR2 (R65fs)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679151	NM_003227.4(TFR2):c.66_67del (p.Tyr23fs)	TFR2 (Y23fs)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 1994247	NM_003227.4(TFR2):c.58C>T (p.Gln20Ter)	TFR2 (Q20*)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 3240589	NM_003227.4(TFR2):c.37C>T (p.Gln13Ter)	TFR2 (Q13*)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 1431727	NM_003227.4(TFR2):c.34C>T (p.Gln12Ter)	TFR2 (Q12*)	Single nucleotide variant (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 3240586	NM_003227.4(TFR2):c.34-2A>C	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679166	NM_003227.4(TFR2):c.34-2A>G	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 1389891	NM_003227.4(TFR2):c.33+1del	TFR2	Deletion (splice donor variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2679160	NM_003227.4(TFR2):c.10dup (p.Leu4fs)	TFR2 (L4fs)	Duplication (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic

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Items: 70