"Illumina Laboratory Services, Illumina"[submitter] AND "TFR2"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908971	NM_003227.4(TFR2):c.*435T>C	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 908972	NM_003227.4(TFR2):c.*280A>C	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 358280	NM_003227.4(TFR2):c.*220C>T	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 358281	NM_003227.4(TFR2):c.*208C>T	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 909842	NM_003227.4(TFR2):c.*142G>A	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 909843	NM_003227.4(TFR2):c.*141C>T	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 358282	NM_003227.4(TFR2):c.*116C>T	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GLikely benign
Select item 909844	NM_003227.4(TFR2):c.*55G>A	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 909845	NM_003227.4(TFR2):c.*1G>A	TFR2	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 358283	NM_003227.4(TFR2):c.2367G>A (p.Ala789=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
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 695413	NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg)	TFR2 (G589R +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 221188	NM_003227.4(TFR2):c.2255G>A (p.Arg752His)	TFR2 (R752H +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +2 more	GBenign/Likely benign
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 358284	NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu)	TFR2 (P728L +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +2 more	GUncertain significance
Select item 358285	NM_003227.4(TFR2):c.2175C>T (p.Ala725=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 358286	NM_003227.4(TFR2):c.2172A>G (p.Pro724=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +2 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 220387	NM_003227.4(TFR2):c.2085G>C (p.Ser695=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 911961	NM_003227.4(TFR2):c.2043C>T (p.Tyr681=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3	GUncertain significance
Select item 632495	NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)	LOC113687175, TFR2 (Q672* +1 more)	Single nucleotide variant (nonsense)	TFR2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 652902	NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg)	LOC113687175, TFR2 (G497R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 221011	NM_003227.4(TFR2):c.1995+9G>C	TFR2	Single nucleotide variant (intron 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 911963	NM_003227.4(TFR2):c.1956G>A (p.Arg652=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 530400	NM_003227.4(TFR2):c.1941G>T (p.Gly647=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GBenign
Select item 697146	NM_003227.4(TFR2):c.1920C>T (p.Pro640=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 761805	NM_003227.4(TFR2):c.1875C>T (p.Leu625=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 909029	NM_003227.4(TFR2):c.1863C>T (p.Ala621=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 21369	NM_003227.4(TFR2):c.1851C>T (p.Ala617=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +2 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 415943	NM_003227.4(TFR2):c.1767+7C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +2 more	GBenign
Select item 909030	NM_003227.4(TFR2):c.1747G>A (p.Val583Ile)	TFR2 (V583I +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 909031	NM_003227.4(TFR2):c.1683-4C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 909890	NM_003227.4(TFR2):c.1682+11G>C	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 358287	NM_003227.4(TFR2):c.1682+9G>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 909891	NM_003227.4(TFR2):c.1682+4A>C	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3	GUncertain significance
Select item 695828	NM_003227.4(TFR2):c.1620C>T (p.Asn540=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 358288	NM_003227.4(TFR2):c.1575G>A (p.Leu525=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 358289	NM_003227.4(TFR2):c.1504G>A (p.Val502Ile)	TFR2 (V502I +1 more)	Single nucleotide variant (missense 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)	Hemochromatosis type 3 +2 more	GUncertain significance
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 239513	NM_003227.4(TFR2):c.1473G>A (p.Glu491=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 258986	NM_003227.4(TFR2):c.1449C>T (p.Ser483=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +2 more	GBenign
Select item 358290	NM_003227.4(TFR2):c.1391-13C>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GBenign
Select item 5383	NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)	TFR2 (R455Q +1 more)	Single nucleotide variant (missense variant)	TFR2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 910793	NM_003227.4(TFR2):c.1329C>T (p.Ser443=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
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 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 358291	NM_003227.4(TFR2):c.1252G>A (p.Glu418Lys)	TFR2 (E418K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 358292	NM_003227.4(TFR2):c.1249A>G (p.Ile417Val)	TFR2 (I417V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GLikely benign
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 912006	NM_003227.4(TFR2):c.1167T>C (p.Tyr389=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3	GUncertain significance
Select item 461196	NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)	TFR2 (A376D +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GConflicting classifications of pathogenicity
Select item 576868	NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)	TFR2 (G373D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 530395	NM_003227.4(TFR2):c.1097G>A (p.Arg366His)	TFR2 (R366H +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 358293	NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)	TFR2 (I359N +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 701342	NM_003227.4(TFR2):c.906G>A (p.Ala302=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 358294	NM_003227.4(TFR2):c.849+6T>A	TFR2	Single nucleotide variant (intron variant)	TFR2-related condition +3 more	GBenign
Select item 909091	NM_003227.4(TFR2):c.822C>T (p.Arg274=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 909092	NM_003227.4(TFR2):c.759C>A (p.Pro253=)	TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 695305	NM_003227.4(TFR2):c.727-9T>A	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3 +2 more	GConflicting classifications of pathogenicity
Select item 358295	NM_003227.4(TFR2):c.726+9C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 21378	NM_003227.4(TFR2):c.714C>G (p.Ile238Met)	TFR2 (I238M +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GBenign/Likely benign
Select item 358296	NM_003227.4(TFR2):c.674C>T (p.Pro225Leu)	TFR2 (P225L +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 358297	NM_003227.4(TFR2):c.617C>A (p.Ala206Asp)	TFR2 (A206D +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 909944	NM_003227.4(TFR2):c.615-12C>T	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 358298	NM_003227.4(TFR2):c.557A>C (p.Gln186Pro)	TFR2 (Q186P +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 358299	NM_003227.4(TFR2):c.479C>T (p.Thr160Ile)	TFR2 (T160I)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary hemochromatosis	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 695306	NM_003227.4(TFR2):c.473+8T>A	TFR2	Single nucleotide variant (intron variant)	Hemochromatosis type 3 +1 more	GConflicting classifications of pathogenicity
Select item 358300	NM_003227.4(TFR2):c.447G>A (p.Gly149=)	TFR2	Single nucleotide variant (synonymous variant)	TFR2-related condition +2 more	GBenign/Likely benign
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 872277	NM_003227.4(TFR2):c.381C>A (p.Asp127Glu)	TFR2 (D127E)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GUncertain significance
Select item 695178	NM_003227.4(TFR2):c.303C>T (p.Tyr101=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 910846	NM_003227.4(TFR2):c.286+15C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
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 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 910848	NM_003227.4(TFR2):c.190T>C (p.Ser64Pro)	TFR2 (S64P)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 358301	NM_003227.4(TFR2):c.140C>T (p.Thr47Ile)	TFR2 (T47I)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
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 358302	NM_003227.4(TFR2):c.-8A>T	TFR2	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 3	GUncertain significance
Select item 358303	NM_003227.4(TFR2):c.-39C>T	TFR2	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 3	GBenign

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Items: 84