LOC113687175[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 584337	NC_000007.13:g.(?_100218474)_(100227001_?)dup	LOC113687175, TFR2	Duplication	Hereditary hemochromatosis	GUncertain significance
Select item 1490088	NM_003227.4(TFR2):c.2136+15_2136+28del	LOC113687175, TFR2	Deletion (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3005850	NM_003227.4(TFR2):c.2136+20G>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2157008	NM_003227.4(TFR2):c.2136+20G>C	TFR2, LOC113687175	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2733652	NM_003227.4(TFR2):c.2136+19C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2987114	NM_003227.4(TFR2):c.2136+15T>C	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 799997	NM_003227.4(TFR2):c.2136+10C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 698356	NM_003227.4(TFR2):c.2136+9C>A	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
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 2810935	NM_003227.4(TFR2):c.2136+1G>C	LOC113687175, TFR2	Single nucleotide variant (splice donor variant)	Hereditary hemochromatosis	GPathogenic
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 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 2186921	NM_003227.4(TFR2):c.2133G>A (p.Met711Ile)	LOC113687175, TFR2 (M711I +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 2084741	NM_003227.4(TFR2):c.2127C>T (p.Arg709=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2044439	NM_003227.4(TFR2):c.2124G>T (p.Val708=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1961721	NM_003227.4(TFR2):c.2111G>A (p.Arg704His)	LOC113687175, TFR2 (R704H +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 578418	NM_003227.4(TFR2):c.2111G>T (p.Arg704Leu)	LOC113687175, TFR2 (R704L +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1111688	NM_003227.4(TFR2):c.2109A>G (p.Thr703=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1102070	NM_003227.4(TFR2):c.2106G>A (p.Leu702=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1012051	NM_003227.4(TFR2):c.2105T>C (p.Leu702Pro)	LOC113687175, TFR2 (L531P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2011195	NM_003227.4(TFR2):c.2104C>T (p.Leu702=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2904432	NM_003227.4(TFR2):c.2103A>G (p.Arg701=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1077206	NM_003227.4(TFR2):c.2101C>A (p.Arg701=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 2971822	NM_003227.4(TFR2):c.2096_2100del (p.Asp699fs)	LOC113687175, TFR2 (D528fs +1 more)	Deletion (frameshift variant)	Hereditary hemochromatosis	GPathogenic
Select item 2911461	NM_003227.4(TFR2):c.2100G>A (p.Glu700=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1049318	NM_003227.4(TFR2):c.2098G>C (p.Glu700Gln)	LOC113687175, TFR2 (E529Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625025	NM_003227.4(TFR2):c.2097C>T (p.Asp699=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2815191	NM_003227.4(TFR2):c.2089_2095dup (p.Asp699fs)	LOC113687175, TFR2 (D699fs +1 more)	Duplication (frameshift variant)	Hereditary hemochromatosis	GPathogenic
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 1417753	NM_003227.4(TFR2):c.2092A>T (p.Arg698Ter)	LOC113687175, TFR2 (R527* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GPathogenic
Select item 698307	NM_003227.4(TFR2):c.2091G>A (p.Glu697=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1090082	NM_003227.4(TFR2):c.2088G>A (p.Glu696=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2731992	NM_003227.4(TFR2):c.2085G>T (p.Ser695=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1109956	NM_003227.4(TFR2):c.2085G>A (p.Ser695=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 220387	NM_003227.4(TFR2):c.2085G>C (p.Ser695=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hemochromatosis type 3 +2 more	GBenign/Likely benign
Select item 1073275	NM_003227.4(TFR2):c.2084C>A (p.Ser695Ter)	LOC113687175, TFR2 (S524* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GPathogenic
Select item 2692606	NM_003227.4(TFR2):c.2079C>G (p.Tyr693Ter)	LOC113687175, TFR2 (Y693* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GPathogenic
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 1138462	NM_003227.4(TFR2):c.2076C>T (p.Ile692=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1004585	NM_003227.4(TFR2):c.2071_2073del (p.Glu691del)	LOC113687175, TFR2 (E520del +1 more)	Deletion (inframe_deletion)	Hereditary hemochromatosis	GUncertain significance
Select item 798569	NM_003227.4(TFR2):c.2073G>A (p.Glu691=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 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 2704264	NM_003227.4(TFR2):c.2067G>A (p.Arg689=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1633678	NM_003227.4(TFR2):c.2067G>T (p.Arg689=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 1642049	NM_003227.4(TFR2):c.2055G>T (p.Ala685=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1582042	NM_003227.4(TFR2):c.2055G>A (p.Ala685=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 2907018	NM_003227.4(TFR2):c.2052G>A (p.Ala684=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3013631	NM_003227.4(TFR2):c.2046C>T (p.Ile682=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 1576950	NM_003227.4(TFR2):c.2040C>T (p.Asp680=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 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 1123578	NM_003227.4(TFR2):c.2037G>A (p.Gly679=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 410078	NM_003227.4(TFR2):c.2036G>A (p.Gly679Glu)	LOC113687175, TFR2 (G679E +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1154177	NM_003227.4(TFR2):c.2034G>T (p.Arg678=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 2720945	NM_003227.4(TFR2):c.2028G>C (p.Ser676=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1530445	NM_003227.4(TFR2):c.2028G>T (p.Ser676=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2976349	NM_003227.4(TFR2):c.2025C>T (p.Tyr675=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 1453795	NM_003227.4(TFR2):c.2018G>A (p.Trp673Ter)	LOC113687175, TFR2 (W673* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GPathogenic
Select item 1113969	NM_003227.4(TFR2):c.2016G>A (p.Gln672=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 2063958	NM_003227.4(TFR2):c.2008A>C (p.Thr670Pro)	LOC113687175, TFR2 (T499P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2901545	NM_003227.4(TFR2):c.2007G>A (p.Leu669=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 652902	NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg)	LOC113687175, TFR2 (G497R +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3 +1 more	GUncertain significance
Select item 1636206	NM_003227.4(TFR2):c.2001C>A (p.Arg667=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 700957	NM_003227.4(TFR2):c.1996-4C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2032518	NM_003227.4(TFR2):c.1996-5C>G	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2916871	NM_003227.4(TFR2):c.1996-6C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2167720	NM_003227.4(TFR2):c.1996-8C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2955107	NM_003227.4(TFR2):c.1996-10C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2962287	NM_003227.4(TFR2):c.1996-15G>A	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2725575	NM_003227.4(TFR2):c.1996-17G>C	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 1239435	NM_003227.4(TFR2):c.1996-111_1996-110insCA	LOC113687175, TFR2	Insertion (intron variant)	not provided	GBenign

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Items: 90