ClinVar for MedGen (Select 388114) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24384771.	NM_003227.4(TFR2):c.2093_2096del (p.Arg698fs) GRCh37: Chr7:100224426-100224429 GRCh38: Chr7:100626803-100626806	LOC113687175, TFR2	R527fs, R698fs	Hemochromatosis type 3	Pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 24341302.	NM_003227.4(TFR2):c.1996-2A>C GRCh37: Chr7:100224528 GRCh38: Chr7:100626905	LOC113687175, TFR2		Hemochromatosis type 3	Likely pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 13279953.	NM_003227.4(TFR2):c.2038G>T (p.Asp680Tyr) GRCh37: Chr7:100224484 GRCh38: Chr7:100626861	LOC113687175, TFR2	D509Y, D680Y	Hemochromatosis type 3	Likely pathogenic (Jul 1, 2021)	criteria provided, single submitter
Select item 13236864.	NM_003227.4(TFR2):c.1768-1G>A GRCh37: Chr7:100225115 GRCh38: Chr7:100627492	TFR2		Hemochromatosis type 3	Pathogenic (Jun 22, 2020)	criteria provided, single submitter
Select item 11684495.	NM_003227.4(TFR2):c.767T>G (p.Leu256Arg) GRCh37: Chr7:100230706 GRCh38: Chr7:100633083	TFR2	L256R, L85R	Hereditary hemochromatosis	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 11519316.	NM_003227.4(TFR2):c.1305A>G (p.Ala435=) GRCh37: Chr7:100226961 GRCh38: Chr7:100629338	TFR2		Hereditary hemochromatosis	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 11399497.	NM_003227.4(TFR2):c.1605+10C>G GRCh37: Chr7:100225520 GRCh38: Chr7:100627897	TFR2		Hereditary hemochromatosis	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 11262678.	NM_003227.4(TFR2):c.2277C>T (p.Pro759=) GRCh37: Chr7:100218609 GRCh38: Chr7:100620986	TFR2		Hereditary hemochromatosis	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 11254929.	NM_003227.4(TFR2):c.120C>T (p.Asp40=) GRCh37: Chr7:100238765 GRCh38: Chr7:100641142	TFR2		Hereditary hemochromatosis	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 111275710.	NM_003227.4(TFR2):c.1242C>T (p.Phe414=) GRCh37: Chr7:100228540 GRCh38: Chr7:100630917	TFR2		Hereditary hemochromatosis	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 111112911.	NM_003227.4(TFR2):c.462G>A (p.Glu154=) GRCh37: Chr7:100238320 GRCh38: Chr7:100640697	TFR2		Hereditary hemochromatosis	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 110980112.	NM_003227.4(TFR2):c.2184G>A (p.Pro728=) GRCh37: Chr7:100218702 GRCh38: Chr7:100621079	TFR2		Hereditary hemochromatosis	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 108081813.	NM_003227.4(TFR2):c.19C>T (p.Leu7=) GRCh37: Chr7:100239114 GRCh38: Chr7:100641491	TFR2		Hereditary hemochromatosis	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 105819414.	NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys) GRCh37: Chr7:100224451 GRCh38: Chr7:100626828	LOC113687175, TFR2	E520K, E691K	Hereditary hemochromatosis, Hemochromatosis type 3	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104907515.	NM_003227.4(TFR2):c.134C>T (p.Ala45Val) GRCh37: Chr7:100238751 GRCh38: Chr7:100641128	TFR2	A45V	Hemochromatosis type 3	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 101396416.	NM_003227.4(TFR2):c.2054C>T (p.Ala685Val) GRCh37: Chr7:100224468 GRCh38: Chr7:100626845	LOC113687175, TFR2	A514V, A685V	Hereditary hemochromatosis	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 99009717.	NM_003227.4(TFR2):c.415G>C (p.Asp139His) GRCh37: Chr7:100238367 GRCh38: Chr7:100640744	TFR2	D139H	Hemochromatosis type 3	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99009618.	NM_003227.4(TFR2):c.474-5C>T GRCh37: Chr7:100231184 GRCh38: Chr7:100633561	TFR2		Hereditary hemochromatosis	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 99009519.	NM_003227.4(TFR2):c.690C>G (p.Asp230Glu) GRCh37: Chr7:100230888 GRCh38: Chr7:100633265	TFR2	D230E, D59E	Hemochromatosis type 3	Likely benign (Nov 4, 2020)	no assertion criteria provided
Select item 99009420.	NM_003227.4(TFR2):c.726+10C>T GRCh37: Chr7:100230842 GRCh38: Chr7:100633219	TFR2		Hereditary hemochromatosis	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 99009321.	NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln) GRCh37: Chr7:100228589 GRCh38: Chr7:100630966	TFR2	R227Q, R398Q	Hemochromatosis type 3	Likely benign (Aug 18, 2020)	no assertion criteria provided
Select item 99009222.	NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser) GRCh37: Chr7:100228539 GRCh38: Chr7:100630916	TFR2	G244S, G415S	Hereditary hemochromatosis, Hemochromatosis type 3	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99009123.	NM_003227.4(TFR2):c.1263A>G (p.Ser421=) GRCh37: Chr7:100228519 GRCh38: Chr7:100630896	TFR2		Hereditary hemochromatosis	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 97031024.	NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) GRCh37: Chr7:100239104 GRCh38: Chr7:100641481	TFR2	R10T	Hereditary hemochromatosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 96925125.	NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr) GRCh37: Chr7:100229445 GRCh38: Chr7:100631822	TFR2	A193T, A364T	Hereditary hemochromatosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 96537326.	NM_003227.4(TFR2):c.1450G>A (p.Val484Met) GRCh37: Chr7:100225870 GRCh38: Chr7:100628247	TFR2	V484M, V313M	Hereditary hemochromatosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 91740027.	NM_003227.3(TFR2):c.1540delG GRCh37: Chr7:100225595 GRCh38: Chr7:100627972	TFR2		Hemochromatosis type 3	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 91739928.	NM_003227.4(TFR2):c.671T>G (p.Leu224Arg) GRCh37: Chr7:100230907 GRCh38: Chr7:100633284	TFR2	L224R, L53R	Hemochromatosis type 3	Pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 91200629.	NM_003227.4(TFR2):c.1167T>C (p.Tyr389=) GRCh37: Chr7:100228615 GRCh38: Chr7:100630992	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91200530.	NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys) GRCh37: Chr7:100228576 GRCh38: Chr7:100630953	TFR2	N231K, N402K	Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Apr 28, 2022)	criteria provided, conflicting interpretations
Select item 91196331.	NM_003227.4(TFR2):c.1956G>A (p.Arg652=) GRCh37: Chr7:100224926 GRCh38: Chr7:100627303	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 91196232.	NM_003227.4(TFR2):c.1974C>T (p.Asn658=) GRCh37: Chr7:100224908 GRCh38: Chr7:100627285	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91196133.	NM_003227.4(TFR2):c.2043C>T (p.Tyr681=) GRCh37: Chr7:100224479 GRCh38: Chr7:100626856	TFR2, LOC113687175		Hemochromatosis type 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91196034.	NM_003227.4(TFR2):c.2078A>C (p.Tyr693Ser) GRCh37: Chr7:100224444 GRCh38: Chr7:100626821	LOC113687175, TFR2	Y522S, Y693S	Hemochromatosis type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91084835.	NM_003227.4(TFR2):c.190T>C (p.Ser64Pro) GRCh37: Chr7:100238695 GRCh38: Chr7:100641072	TFR2	S64P	Hemochromatosis type 3	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91084736.	NM_003227.4(TFR2):c.233G>T (p.Gly78Val) GRCh37: Chr7:100238652 GRCh38: Chr7:100641029	TFR2	G78V	Hemochromatosis type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91084637.	NM_003227.4(TFR2):c.286+15C>T GRCh37: Chr7:100238584 GRCh38: Chr7:100640961	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 91079538.	NM_003227.4(TFR2):c.1259G>A (p.Arg420His) GRCh37: Chr7:100228523 GRCh38: Chr7:100630900	TFR2	R249H, R420H	Hemochromatosis type 3	Uncertain significance (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91079439.	NM_003227.4(TFR2):c.1279G>A (p.Val427Ile) GRCh37: Chr7:100226987 GRCh38: Chr7:100629364	TFR2	V256I, V427I	Inborn genetic diseases, Hemochromatosis type 3	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91079340.	NM_003227.4(TFR2):c.1329C>T (p.Ser443=) GRCh37: Chr7:100226937 GRCh38: Chr7:100629314	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Aug 28, 2022)	criteria provided, conflicting interpretations
Select item 91074341.	NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) GRCh37: Chr7:100224387 GRCh38: Chr7:100626764	LOC113687175, TFR2	R541Q, R712Q	Inborn genetic diseases, Hereditary hemochromatosis, Hemochromatosis type 3	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91074242.	NM_003227.4(TFR2):c.2248C>G (p.Leu750Val) GRCh37: Chr7:100218638 GRCh38: Chr7:100621015	TFR2	L579V, L750V	Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91074143.	NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro) GRCh37: Chr7:100218550 GRCh38: Chr7:100620927	TFR2	L608P, L779P	Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90994644.	NM_003227.4(TFR2):c.427A>C (p.Met143Leu) GRCh37: Chr7:100238355 GRCh38: Chr7:100640732	TFR2	M143L	Inborn genetic diseases, Hemochromatosis type 3	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90994545.	NM_003227.4(TFR2):c.474-7C>T GRCh37: Chr7:100231186 GRCh38: Chr7:100633563	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90994446.	NM_003227.4(TFR2):c.615-12C>T GRCh37: Chr7:100230975 GRCh38: Chr7:100633352	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90989347.	NM_003227.4(TFR2):c.1473+13C>G GRCh37: Chr7:100225834 GRCh38: Chr7:100628211	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Jul 24, 2022)	criteria provided, conflicting interpretations
Select item 90989248.	NM_003227.4(TFR2):c.1486G>A (p.Val496Met) GRCh37: Chr7:100225747 GRCh38: Chr7:100628124	TFR2	V325M, V496M	Hereditary hemochromatosis, Hemochromatosis type 3	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90989149.	NM_003227.4(TFR2):c.1682+4A>C GRCh37: Chr7:100225363 GRCh38: Chr7:100627740	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90989050.	NM_003227.4(TFR2):c.1682+11G>C GRCh37: Chr7:100225356 GRCh38: Chr7:100627733	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 90984551.	NM_003227.4(TFR2):c.*1G>A GRCh37: Chr7:100218479 GRCh38: Chr7:100620856	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90984452.	NM_003227.4(TFR2):c.*55G>A GRCh37: Chr7:100218425 GRCh38: Chr7:100620802	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90984353.	NM_003227.4(TFR2):c.*141C>T GRCh37: Chr7:100218339 GRCh38: Chr7:100620716	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90984254.	NM_003227.4(TFR2):c.*142G>A GRCh37: Chr7:100218338 GRCh38: Chr7:100620715	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90909255.	NM_003227.4(TFR2):c.759C>A (p.Pro253=) GRCh37: Chr7:100230714 GRCh38: Chr7:100633091	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 90909156.	NM_003227.4(TFR2):c.822C>T (p.Arg274=) GRCh37: Chr7:100230651 GRCh38: Chr7:100633028	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Oct 3, 2021)	criteria provided, conflicting interpretations
Select item 90903157.	NM_003227.4(TFR2):c.1683-4C>T GRCh37: Chr7:100225288 GRCh38: Chr7:100627665	TFR2		Hemochromatosis type 3, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 90903058.	NM_003227.4(TFR2):c.1747G>A (p.Val583Ile) GRCh37: Chr7:100225220 GRCh38: Chr7:100627597	TFR2	V583I, V412I	Hemochromatosis type 3	Uncertain significance (Sep 19, 2017)	criteria provided, single submitter
Select item 90902959.	NM_003227.4(TFR2):c.1863C>T (p.Ala621=) GRCh37: Chr7:100225019 GRCh38: Chr7:100627396	TFR2		Hemochromatosis type 3, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 90897260.	NM_003227.4(TFR2):c.*280A>C GRCh37: Chr7:100218200 GRCh38: Chr7:100620577	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90897161.	NM_003227.4(TFR2):c.*435T>C GRCh37: Chr7:100218045 GRCh38: Chr7:100620422	TFR2		Hemochromatosis type 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87227762.	NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) GRCh37: Chr7:100238401 GRCh38: Chr7:100640778	TFR2	D127E	Hereditary hemochromatosis, Hemochromatosis type 3	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85903863.	NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) GRCh37: Chr7:100218543 GRCh38: Chr7:100620920	TFR2	W610, W781	Hereditary hemochromatosis	Likely pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 79451864.	NM_003227.4(TFR2):c.123G>C (p.Gly41=) GRCh37: Chr7:100238762 GRCh38: Chr7:100641139	TFR2		Hereditary hemochromatosis	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 76180565.	NM_003227.4(TFR2):c.1875C>T (p.Leu625=) GRCh37: Chr7:100225007 GRCh38: Chr7:100627384	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Nov 1, 2021)	criteria provided, conflicting interpretations
Select item 75547266.	NM_003227.4(TFR2):c.2400C>T (p.Asn800=) GRCh37: Chr7:100218486 GRCh38: Chr7:100620863	TFR2		Hereditary hemochromatosis	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 75533967.	NM_003227.4(TFR2):c.420C>G (p.Leu140=) GRCh37: Chr7:100238362 GRCh38: Chr7:100640739	TFR2		Hereditary hemochromatosis	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 70409868.	NM_003227.4(TFR2):c.2268C>T (p.Ser756=) GRCh37: Chr7:100218618 GRCh38: Chr7:100620995	TFR2		Hereditary hemochromatosis	Likely benign (Jul 9, 2021)	criteria provided, single submitter
Select item 70340269.	NM_003227.4(TFR2):c.177T>C (p.Pro59=) GRCh37: Chr7:100238708 GRCh38: Chr7:100641085	TFR2		Hereditary hemochromatosis	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 70315870.	NM_003227.4(TFR2):c.1626T>C (p.Ser542=) GRCh37: Chr7:100225423 GRCh38: Chr7:100627800	TFR2		Hereditary hemochromatosis	Likely benign (Jan 9, 2021)	criteria provided, single submitter
Select item 70134271.	NM_003227.4(TFR2):c.906G>A (p.Ala302=) GRCh37: Chr7:100229765 GRCh38: Chr7:100632142	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 70088972.	NM_003227.4(TFR2):c.1179C>T (p.Pro393=) GRCh37: Chr7:100228603 GRCh38: Chr7:100630980	TFR2		Hereditary hemochromatosis	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 69968273.	NM_003227.4(TFR2):c.1767+7C>G GRCh37: Chr7:100225193 GRCh38: Chr7:100627570	TFR2		Hereditary hemochromatosis	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 69951874.	NM_003227.4(TFR2):c.1902C>T (p.Ser634=) GRCh37: Chr7:100224980 GRCh38: Chr7:100627357	TFR2		Hereditary hemochromatosis	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 69844175.	NM_003227.4(TFR2):c.225G>A (p.Ala75=) GRCh37: Chr7:100238660 GRCh38: Chr7:100641037	TFR2		Hereditary hemochromatosis	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 69830776.	NM_003227.4(TFR2):c.2091G>A (p.Glu697=) GRCh37: Chr7:100224431 GRCh38: Chr7:100626808	LOC113687175, TFR2		Hereditary hemochromatosis	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 69786277.	NM_003227.4(TFR2):c.1527C>T (p.Asn509=) GRCh37: Chr7:100225706 GRCh38: Chr7:100628083	TFR2		Hereditary hemochromatosis	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 69714678.	NM_003227.4(TFR2):c.1920C>T (p.Pro640=) GRCh37: Chr7:100224962 GRCh38: Chr7:100627339	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 69701379.	NM_003227.4(TFR2):c.374A>C (p.Glu125Ala) GRCh37: Chr7:100238408 GRCh38: Chr7:100640785	TFR2	E125A	Hereditary hemochromatosis	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 69629280.	NM_003227.4(TFR2):c.287-5G>A GRCh37: Chr7:100238500 GRCh38: Chr7:100640877	TFR2		Hereditary hemochromatosis	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 69627381.	NM_003227.4(TFR2):c.2137-5C>T GRCh37: Chr7:100218754 GRCh38: Chr7:100621131	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69603082.	NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) GRCh37: Chr7:100225205 GRCh38: Chr7:100627582	TFR2	M588L, M417L	Hereditary hemochromatosis	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 69583083.	NM_003227.4(TFR2):c.2346G>A (p.Thr782=) GRCh37: Chr7:100218540 GRCh38: Chr7:100620917	TFR2		Hereditary hemochromatosis	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 69582884.	NM_003227.4(TFR2):c.1620C>T (p.Asn540=) GRCh37: Chr7:100225429 GRCh38: Chr7:100627806	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 69541385.	NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) GRCh37: Chr7:100218608 GRCh38: Chr7:100620985	TFR2	G589R, G760R	Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 69530686.	NM_003227.4(TFR2):c.473+8T>A GRCh37: Chr7:100238301 GRCh38: Chr7:100640678	TFR2		Hemochromatosis type 3, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 69530587.	NM_003227.4(TFR2):c.727-9T>A GRCh37: Chr7:100230755 GRCh38: Chr7:100633132	TFR2		Hemochromatosis type 3, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 69517888.	NM_003227.4(TFR2):c.303C>T (p.Tyr101=) GRCh37: Chr7:100238479 GRCh38: Chr7:100640856	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 65290289.	NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg) GRCh37: Chr7:100224520 GRCh38: Chr7:100626897	LOC113687175, TFR2	G497R, G668R	Hereditary hemochromatosis, Hemochromatosis type 3	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64889390.	NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) GRCh37: Chr7:100225409 GRCh38: Chr7:100627786	TFR2	Y547F, Y376F	Hereditary hemochromatosis	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 63926191.	NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) GRCh37: Chr7:100225006 GRCh38: Chr7:100627383	TFR2	A626T, A455T	Hereditary hemochromatosis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 63249592.	NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) GRCh37: Chr7:100224508 GRCh38: Chr7:100626885	LOC113687175, TFR2	Q672, Q501	Hemochromatosis type 3, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 57686893.	NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) GRCh37: Chr7:100228664 GRCh38: Chr7:100631041	TFR2	G373D, G202D	Hemochromatosis type 1, Hereditary hemochromatosis, not provided, Hemochromatosis type 3	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53040094.	NM_003227.4(TFR2):c.1941G>T (p.Gly647=) GRCh37: Chr7:100224941 GRCh38: Chr7:100627318	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53039595.	NM_003227.4(TFR2):c.1097G>A (p.Arg366His) GRCh37: Chr7:100229438 GRCh38: Chr7:100631815	TFR2	R366H, R195H	Hemochromatosis type 3, Hereditary hemochromatosis	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 53039496.	NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser) GRCh37: Chr7:100228653 GRCh38: Chr7:100631030	TFR2	P377S, P206S	Hereditary hemochromatosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 46119697.	NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) GRCh37: Chr7:100228655 GRCh38: Chr7:100631032	TFR2	A376D, A205D	Hereditary hemochromatosis, not provided, Hemochromatosis type 3	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 41594398.	NM_003227.4(TFR2):c.1767+7C>T GRCh37: Chr7:100225193 GRCh38: Chr7:100627570	TFR2		Hereditary hemochromatosis, Hemochromatosis type 3	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41007799.	NM_003227.4(TFR2):c.1771G>C (p.Asp591His) GRCh37: Chr7:100225111 GRCh38: Chr7:100627488	TFR2	D591H, D420H	Hereditary hemochromatosis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter

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