TMPRSS6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 341568	NM_001374504.1(TMPRSS6):c.*580C>G	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GBenign
Select item 341569	NM_001374504.1(TMPRSS6):c.*576C>A	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GLikely benign
Select item 341570	NM_001374504.1(TMPRSS6):c.*546T>C	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GBenign
Select item 341571	NM_001374504.1(TMPRSS6):c.*503C>G	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GBenign
Select item 341572	NM_001374504.1(TMPRSS6):c.*499C>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 903047	NM_001374504.1(TMPRSS6):c.*411C>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GLikely benign
Select item 341573	NM_001374504.1(TMPRSS6):c.*303T>G	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 903048	NM_001374504.1(TMPRSS6):c.*251T>A	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 903049	NM_001374504.1(TMPRSS6):c.*212T>A	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 341574	NM_001374504.1(TMPRSS6):c.*140C>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 341575	NM_001374504.1(TMPRSS6):c.*86C>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GBenign
Select item 899427	NM_001374504.1(TMPRSS6):c.*72G>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GLikely benign
Select item 341576	NM_001374504.1(TMPRSS6):c.*35T>C	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 899428	NM_001374504.1(TMPRSS6):c.*24G>A	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 1675886	NM_001374504.1(TMPRSS6):c.2407T>G (p.Ter803Gly)	TMPRSS6	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 899429	NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser)	TMPRSS6 (G814S +1 more)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 2049312	NM_001374504.1(TMPRSS6):c.2372C>T (p.Thr791Ile)	TMPRSS6 (T813I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262727	NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)	TMPRSS6 (V795I +2 more)	Single nucleotide variant (missense variant)	Microcytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 2959241	NM_001374504.1(TMPRSS6):c.2352C>T (p.Phe784=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520952	NM_001374504.1(TMPRSS6):c.2347T>C (p.Tyr783His)	TMPRSS6 (Y805H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318747	NM_001374504.1(TMPRSS6):c.2339G>A (p.Arg780Gln)	TMPRSS6 (R780Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179944	NM_001374504.1(TMPRSS6):c.2333G>A (p.Cys778Tyr)	TMPRSS6 (C778Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 341577	NM_001374504.1(TMPRSS6):c.2319C>T (p.Ser773=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GBenign
Select item 3179943	NM_001374504.1(TMPRSS6):c.2278A>C (p.Lys760Gln)	TMPRSS6 (K782Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2103329	NM_001374504.1(TMPRSS6):c.2272G>C (p.Val758Leu)	TMPRSS6 (V780L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279400	NM_001374504.1(TMPRSS6):c.2250+234G>C	TMPRSS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 899430	NM_001374504.1(TMPRSS6):c.2250+15C>T	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia	GUncertain significance
Select item 900548	NM_001374504.1(TMPRSS6):c.2250+7C>A	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia	GUncertain significance
Select item 2372716	NM_001374504.1(TMPRSS6):c.2225G>A (p.Arg742His)	TMPRSS6 (R742H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 900549	NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His)	TMPRSS6 (R735H +1 more)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 3179942	NM_001374504.1(TMPRSS6):c.2198C>T (p.Thr733Met)	TMPRSS6 (T755M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 262726	NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2973316	NM_001374504.1(TMPRSS6):c.2185C>T (p.Arg729Cys)	TMPRSS6 (R729C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262725	NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala)	TMPRSS6 (V736A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 3179941	NM_001374504.1(TMPRSS6):c.2176G>A (p.Glu726Lys)	TMPRSS6 (E726K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2729552	NM_001374504.1(TMPRSS6):c.2175C>T (p.Ser725=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478659	NM_001374504.1(TMPRSS6):c.2164G>T (p.Asp722Tyr)	TMPRSS6 (D722Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179940	NM_001374504.1(TMPRSS6):c.2134C>G (p.Gln712Glu)	TMPRSS6 (Q712E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 627580	NM_001374504.1(TMPRSS6):c.2134C>T (p.Gln712Ter)	TMPRSS6 (Q721* +2 more)	Single nucleotide variant (nonsense)	Microcytic anemia	GPathogenic
Select item 2437122	NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)	TMPRSS6 (A710T +1 more)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 341578	NM_001374504.1(TMPRSS6):c.2127C>T (p.Asn709=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3038088	NM_001374504.1(TMPRSS6):c.2113+458G>C	TMPRSS6	Single nucleotide variant (intron variant +1 more)	TMPRSS6-related disorder	GBenign
Select item 1670518	NM_001374504.1(TMPRSS6):c.2113+19C>T	TMPRSS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1402	NM_001374504.1(TMPRSS6):c.2113+1G>C	TMPRSS6	Single nucleotide variant (splice donor variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 341579	NM_001374504.1(TMPRSS6):c.2112C>T (p.Gly704=)	TMPRSS6	Single nucleotide variant (synonymous variant)	TMPRSS6-related disorder +2 more	GBenign
Select item 809359	NM_001374504.1(TMPRSS6):c.2108A>C (p.Glu703Ala)	TMPRSS6 (E703A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 341580	NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu)	TMPRSS6 (R702L)	Single nucleotide variant (missense variant)	TMPRSS6-related disorder +2 more	GBenign/Likely benign
Select item 902216	NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val)	TMPRSS6 (A700V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2880002	NM_001374504.1(TMPRSS6):c.2097C>T (p.Gly699=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3179939	NM_001374504.1(TMPRSS6):c.2077T>C (p.Cys693Arg)	TMPRSS6 (C693R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902217	NM_001374504.1(TMPRSS6):c.2074C>T (p.His692Tyr)	TMPRSS6 (H692Y)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
Select item 341581	NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu)	TMPRSS6 (F686L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1409	NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs)	TMPRSS6 (V678fs +1 more)	Duplication (frameshift variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 3179938	NM_001374504.1(TMPRSS6):c.2023G>A (p.Val675Met)	TMPRSS6 (V675M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902218	NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro)	TMPRSS6 (S672P)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 902219	NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	GUncertain significance
Select item 902220	NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr)	TMPRSS6 (H667Y)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 1711551	NM_001374504.1(TMPRSS6):c.1995C>T (p.Leu665=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521988	NM_001374504.1(TMPRSS6):c.1964G>T (p.Ser655Ile)	TMPRSS6 (S655I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399	NM_001374504.1(TMPRSS6):c.1877_1878dup (p.Lys627fs)	TMPRSS6 (K636fs +1 more)	Duplication (frameshift variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 902221	NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	GUncertain significance
Select item 2500890	NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)	TMPRSS6 (M615fs)	Insertion (frameshift variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 3054932	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[10]	TMPRSS6	Microsatellite (splice acceptor variant)	TMPRSS6-related disorder	GLikely benign
Select item 786381	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[8]	TMPRSS6	Microsatellite (splice acceptor variant)	TMPRSS6-related disorder +1 more	GBenign/Likely benign
Select item 780652	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[7]	TMPRSS6	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 707838	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[9]	TMPRSS6	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 3054547	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[4]	TMPRSS6	Microsatellite (splice acceptor variant)	TMPRSS6-related disorder	GLikely benign
Select item 1301819	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2]	TMPRSS6	Microsatellite (splice acceptor variant)	not provided	GUncertain significance
Select item 262724	NM_001374504.1(TMPRSS6):c.1842-31CCCCA[5]	TMPRSS6	Microsatellite (splice acceptor variant)	not provided +2 more	GBenign
Select item 3179937	NM_001374504.1(TMPRSS6):c.1834G>A (p.Glu612Lys)	TMPRSS6 (E612K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179936	NM_001374504.1(TMPRSS6):c.1801C>T (p.Arg601Cys)	TMPRSS6 (R601C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782755	NM_001374504.1(TMPRSS6):c.1800C>T (p.Asp600=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1400	NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs)	TMPRSS6 (A605fs +1 more)	Deletion (frameshift variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1408	NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)	TMPRSS6 (R590*)	Single nucleotide variant (nonsense)	Iron-refractory iron deficiency anemia +1 more	GPathogenic/Likely pathogenic
Select item 631894	NM_001374504.1(TMPRSS6):c.1762C>T (p.Arg588Trp)	TMPRSS6 (R588W)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 3179935	NM_001374504.1(TMPRSS6):c.1724C>G (p.Ser575Cys)	TMPRSS6 (S575C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 903101	NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser)	TMPRSS6 (G563S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1660040	NM_001374504.1(TMPRSS6):c.1673-12C>T	TMPRSS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629057	NM_001374504.1(TMPRSS6):c.1672+20C>T	TMPRSS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773923	NM_001374504.1(TMPRSS6):c.1672+9T>C	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia +1 more	GBenign/Likely benign
Select item 1309937	NM_001374504.1(TMPRSS6):c.1666C>T (p.His556Tyr)	TMPRSS6 (H556Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3179932	NM_001374504.1(TMPRSS6):c.1655C>T (p.Ser552Leu)	TMPRSS6 (S552L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 903102	NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser)	TMPRSS6 (G551S)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GUncertain significance
Select item 453123	NM_001374504.1(TMPRSS6):c.1643G>T (p.Cys548Phe)	TMPRSS6 (C557F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 341582	NM_001374504.1(TMPRSS6):c.1636C>T (p.Pro546Ser)	TMPRSS6 (P546S)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
Select item 903103	NM_001374504.1(TMPRSS6):c.1634G>A (p.Arg545Gln)	TMPRSS6 (R545Q)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
Select item 903104	NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp)	TMPRSS6 (R545W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180681	NM_001374504.1(TMPRSS6):c.1620_1627del (p.Gln541fs)	TMPRSS6 (Q541fs)	Deletion (frameshift variant)	Abnormality of metabolism/homeostasis	GLikely pathogenic
Select item 341583	NM_001374504.1(TMPRSS6):c.1627G>A (p.Asp543Asn)	TMPRSS6 (D552N +1 more)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
Select item 450615	NM_001374504.1(TMPRSS6):c.1619C>A (p.Pro540Gln)	TMPRSS6 (P549Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600237	NM_001374504.1(TMPRSS6):c.1555+17C>T	TMPRSS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1401	NM_001374504.1(TMPRSS6):c.1555+1G>A	TMPRSS6	Single nucleotide variant (splice donor variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1299579	NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr)	TMPRSS6 (C516Y)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GLikely pathogenic

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