ClinVar for MedGen (Select 388114) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3240594	NM_003227.4(TFR2):c.754_763delinsGCGTAC (p.Arg252fs)	TFR2 (R252fs +1 more)	Indel (frameshift variant)	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 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 3240591	NM_003227.4(TFR2):c.1271-1G>A	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 3240589	NM_003227.4(TFR2):c.37C>T (p.Gln13Ter)	TFR2 (Q13*)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 3240588	NM_003227.4(TFR2):c.443dup (p.Glu150fs)	TFR2 (E150fs)	Duplication (frameshift 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 3240586	NM_003227.4(TFR2):c.34-2A>C	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 3068271	NM_003227.4(TFR2):c.1316G>A (p.Gly439Glu)	TFR2 (G268E +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
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 2679168	NM_003227.4(TFR2):c.1921del (p.Leu641fs)	TFR2 (L470fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679167	NM_003227.4(TFR2):c.1390+2dup	TFR2	Duplication (splice donor 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 2679165	NM_003227.4(TFR2):c.2227del (p.Ala743fs)	TFR2 (A572fs +1 more)	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 2679163	NM_003227.4(TFR2):c.410G>A (p.Trp137Ter)	TFR2 (W137*)	Single nucleotide variant (nonsense)	Hemochromatosis type 3	GLikely pathogenic
Select item 2679162	NM_003227.4(TFR2):c.1606-8A>G	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3	GLikely 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 2679160	NM_003227.4(TFR2):c.10dup (p.Leu4fs)	TFR2 (L4fs)	Duplication (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 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 2679157	NM_003227.4(TFR2):c.2136+2T>A	LOC113687175, TFR2	Single nucleotide variant (splice donor variant)	Hemochromatosis type 3	GLikely 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 2679155	NM_003227.4(TFR2):c.287-2A>G	TFR2	Single nucleotide variant (splice acceptor variant)	Hemochromatosis type 3	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 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 2679151	NM_003227.4(TFR2):c.66_67del (p.Tyr23fs)	TFR2 (Y23fs)	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 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 2679148	NM_003227.4(TFR2):c.651del (p.Lys219fs)	TFR2 (K219fs +1 more)	Deletion (frameshift variant)	Hemochromatosis type 3	GLikely pathogenic
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 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 2438477	NM_003227.4(TFR2):c.2093_2096del (p.Arg698fs)	LOC113687175, TFR2 (R527fs +1 more)	Microsatellite (frameshift variant)	Hemochromatosis type 3	GPathogenic
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 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 2195116	NM_003227.4(TFR2):c.1474-1G>A	TFR2	Single nucleotide variant (splice acceptor variant)	Hereditary hemochromatosis +1 more	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 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 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 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 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 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 1389891	NM_003227.4(TFR2):c.33+1del	TFR2	Deletion (splice donor variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1327995	NM_003227.4(TFR2):c.2038G>T (p.Asp680Tyr)	LOC113687175, TFR2 (D509Y +1 more)	Single nucleotide variant (missense 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 1168449	NM_003227.4(TFR2):c.767T>G (p.Leu256Arg)	TFR2 (L256R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GBenign
Select item 1151931	NM_003227.4(TFR2):c.1305A>G (p.Ala435=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1139949	NM_003227.4(TFR2):c.1605+10C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 1126267	NM_003227.4(TFR2):c.2277C>T (p.Pro759=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1125492	NM_003227.4(TFR2):c.120C>T (p.Asp40=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1112757	NM_003227.4(TFR2):c.1242C>T (p.Phe414=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1111129	NM_003227.4(TFR2):c.462G>A (p.Glu154=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1109801	NM_003227.4(TFR2):c.2184G>A (p.Pro728=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1080818	NM_003227.4(TFR2):c.19C>T (p.Leu7=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 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 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 1072555	NM_003227.4(TFR2):c.405_406del (p.Tyr136fs)	TFR2 (Y136fs)	Microsatellite (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely 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 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 1058194	NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys)	LOC113687175, TFR2 (E520K +1 more)	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 1013964	NM_003227.4(TFR2):c.2054C>T (p.Ala685Val)	LOC113687175, TFR2 (A514V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 990097	NM_003227.4(TFR2):c.415G>C (p.Asp139His)	TFR2 (D139H)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 990096	NM_003227.4(TFR2):c.474-5C>T	TFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 990095	NM_003227.4(TFR2):c.690C>G (p.Asp230Glu)	TFR2 (D230E +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GLikely benign
Select item 990094	NM_003227.4(TFR2):c.726+10C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 990093	NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln)	TFR2 (R227Q +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GLikely benign
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 990091	NM_003227.4(TFR2):c.1263A>G (p.Ser421=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 970310	NM_003227.4(TFR2):c.29G>C (p.Arg10Thr)	TFR2 (R10T)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 969251	NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr)	TFR2 (A193T +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 965373	NM_003227.4(TFR2):c.1450G>A (p.Val484Met)	TFR2 (V484M +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
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 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 917400	NM_003227.3(TFR2):c.1540delG	TFR2	Deletion	Hemochromatosis type 3	GPathogenic
Select item 917399	NM_003227.4(TFR2):c.671T>G (p.Leu224Arg)	TFR2 (L224R +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GPathogenic
Select item 912006	NM_003227.4(TFR2):c.1167T>C (p.Tyr389=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3	GUncertain significance
Select item 912005	NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys)	TFR2 (N231K +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 911963	NM_003227.4(TFR2):c.1956G>A (p.Arg652=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 911962	NM_003227.4(TFR2):c.1974C>T (p.Asn658=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 911961	NM_003227.4(TFR2):c.2043C>T (p.Tyr681=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3	GUncertain significance
Select item 911960	NM_003227.4(TFR2):c.2078A>C (p.Tyr693Ser)	LOC113687175, TFR2 (Y522S +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 910848	NM_003227.4(TFR2):c.190T>C (p.Ser64Pro)	TFR2 (S64P)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 910847	NM_003227.4(TFR2):c.233G>T (p.Gly78Val)	TFR2 (G78V)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 910846	NM_003227.4(TFR2):c.286+15C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
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 910794	NM_003227.4(TFR2):c.1279G>A (p.Val427Ile)	TFR2 (V256I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 910793	NM_003227.4(TFR2):c.1329C>T (p.Ser443=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
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 910742	NM_003227.4(TFR2):c.2248C>G (p.Leu750Val)	TFR2 (L579V +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 910741	NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro)	TFR2 (L608P +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 909946	NM_003227.4(TFR2):c.427A>C (p.Met143Leu)	TFR2 (M143L)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GUncertain significance
Select item 909945	NM_003227.4(TFR2):c.474-7C>T	TFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Hemochromatosis type 3	GUncertain significance
Select item 909944	NM_003227.4(TFR2):c.615-12C>T	TFR2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909893	NM_003227.4(TFR2):c.1473+13C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 909892	NM_003227.4(TFR2):c.1486G>A (p.Val496Met)	TFR2 (V325M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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