7036[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 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 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 584337	NC_000007.13:g.(?_100218474)_(100227001_?)dup	LOC113687175, TFR2	Duplication	Hereditary hemochromatosis	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 755472	NM_003227.4(TFR2):c.2400C>T (p.Asn800=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2526394	NM_003227.4(TFR2):c.2396A>G (p.Asn799Ser)	TFR2 (N628S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2703930	NM_003227.4(TFR2):c.2394T>C (p.Asp798=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 415944	NM_003227.4(TFR2):c.2389A>G (p.Ile797Val)	TFR2 (I797V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GLikely benign
Select item 2422097	NM_003227.4(TFR2):c.2382C>T (p.Val794=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2884847	NM_003227.4(TFR2):c.2379T>C (p.Asp793=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1101648	NM_003227.4(TFR2):c.2376G>A (p.Gly792=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GLikely benign
Select item 21374	NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg)	TFR2 (G792R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +2 more	GLikely pathogenic
Select item 1948796	NM_003227.4(TFR2):c.2373C>T (p.Ser791=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 1139303	NM_003227.4(TFR2):c.2355G>A (p.Gly785=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1107880	NM_003227.4(TFR2):c.2349G>A (p.Leu783=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2773179	NM_003227.4(TFR2):c.2346G>T (p.Thr782=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 695830	NM_003227.4(TFR2):c.2346G>A (p.Thr782=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2296613	NM_003227.4(TFR2):c.2344A>G (p.Thr782Ala)	TFR2 (T611A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 859038	NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter)	TFR2 (W610* +1 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2742358	NM_003227.4(TFR2):c.2340C>G (p.Thr780=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1093085	NM_003227.4(TFR2):c.2340C>T (p.Thr780=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2701721	NM_003227.4(TFR2):c.2337C>G (p.Leu779=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 3014047	NM_003227.4(TFR2):c.2334G>A (p.Leu778=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2738670	NM_003227.4(TFR2):c.2332C>T (p.Leu778=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1118562	NM_003227.4(TFR2):c.2331C>T (p.Ala777=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2189149	NM_003227.4(TFR2):c.2327T>C (p.Leu776Pro)	TFR2 (L605P +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
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 2037853	NM_003227.4(TFR2):c.2320C>T (p.Arg774Cys)	TFR2 (R603C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GUncertain significance
Select item 1402073	NM_003227.4(TFR2):c.2318G>A (p.Arg773Gln)	TFR2 (R773Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1111139	NM_003227.4(TFR2):c.2301C>T (p.Phe767=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2810487	NM_003227.4(TFR2):c.2292C>A (p.Ser764=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2771227	NM_003227.4(TFR2):c.2292C>T (p.Ser764=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 530399	NM_003227.4(TFR2):c.2289C>T (p.Ser763=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1112429	NM_003227.4(TFR2):c.2283C>T (p.Ala761=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2106932	NM_003227.4(TFR2):c.2281dup (p.Ala761fs)	TFR2 (A590fs +1 more)	Duplication (frameshift variant)	Hereditary hemochromatosis	GPathogenic
Select item 1583550	NM_003227.4(TFR2):c.2280G>C (p.Gly760=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1090124	NM_003227.4(TFR2):c.2280G>A (p.Gly760=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 1126267	NM_003227.4(TFR2):c.2277C>T (p.Pro759=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2140844	NM_003227.4(TFR2):c.2274C>T (p.Thr758=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1612269	NM_003227.4(TFR2):c.2274C>G (p.Thr758=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2714327	NM_003227.4(TFR2):c.2271G>A (p.Gly757=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 239514	NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg)	TFR2 (G757R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 704098	NM_003227.4(TFR2):c.2268C>T (p.Ser756=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1112929	NM_003227.4(TFR2):c.2259C>T (p.Ser753=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3020654	NM_003227.4(TFR2):c.2256C>T (p.Arg752=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2806944	NM_003227.4(TFR2):c.2256C>G (p.Arg752=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 1413137	NM_003227.4(TFR2):c.2254C>T (p.Arg752Cys)	TFR2 (R581C +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1649372	NM_003227.4(TFR2):c.2253G>A (p.Leu751=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1090854	NM_003227.4(TFR2):c.2250G>T (p.Leu750=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely 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 219806	NM_003227.4(TFR2):c.2246G>A (p.Arg749Gln)	TFR2 (R749Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1634445	NM_003227.4(TFR2):c.2245C>A (p.Arg749=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2415335	NM_003227.4(TFR2):c.2242C>T (p.Leu748=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1541398	NM_003227.4(TFR2):c.2241C>T (p.His747=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1096675	NM_003227.4(TFR2):c.2238C>T (p.Asp746=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 2086362	NM_003227.4(TFR2):c.2234T>G (p.Leu745Arg)	TFR2 (L574R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2896141	NM_003227.4(TFR2):c.2233C>T (p.Leu745=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1997662	NM_003227.4(TFR2):c.2232G>C (p.Leu744=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1440812	NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs)	TFR2 (A572fs +1 more)	Microsatellite (frameshift variant)	Hereditary hemochromatosis +1 more	GPathogenic/Likely pathogenic
Select item 21372	NM_003227.4(TFR2):c.2228C>T (p.Ala743Val)	TFR2 (A743V +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	Gnot provided
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 695742	NM_003227.4(TFR2):c.2226C>T (p.Gly742=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1102093	NM_003227.4(TFR2):c.2223G>A (p.Leu741=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1610424	NM_003227.4(TFR2):c.2220G>C (p.Thr740=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1153904	NM_003227.4(TFR2):c.2220G>A (p.Thr740=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1008087	NM_003227.4(TFR2):c.2219C>T (p.Thr740Met)	TFR2 (T569M +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2164466	NM_003227.4(TFR2):c.2217C>T (p.His739=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2613782	NM_003227.4(TFR2):c.2207G>A (p.Arg736His)	TFR2 (R736H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2769421	NM_003227.4(TFR2):c.2199C>T (p.Phe733=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2986980	NM_003227.4(TFR2):c.2196C>A (p.Ile732=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1157853	NM_003227.4(TFR2):c.2193C>T (p.His731=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2876752	NM_003227.4(TFR2):c.2190C>G (p.Arg730=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2843343	NM_003227.4(TFR2):c.2184G>T (p.Pro728=)	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 1097385	NM_003227.4(TFR2):c.2184G>C (p.Pro728=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 944552	NM_003227.4(TFR2):c.2183dup (p.Phe729fs)	TFR2 (F558fs +1 more)	Duplication (frameshift variant)	Hemochromatosis type 3 +1 more	GPathogenic/Likely pathogenic
Select item 358284	NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu)	TFR2 (P728L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2865164	NM_003227.4(TFR2):c.2181C>G (p.Ser727=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2162652	NM_003227.4(TFR2):c.2178C>T (p.Asp726=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2577385	NM_003227.4(TFR2):c.2176G>A (p.Asp726Asn)	TFR2 (D555N +1 more)	Single nucleotide variant (missense variant)	not specified	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

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