ClinVar for MedGen (Select 1673948) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676588	NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)	CLPB (G560R +3 more)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria +4 more	GPathogenic
Select item 1030292	NM_001374504.1(TMPRSS6):c.827T>G (p.Leu276Arg)	TMPRSS6 (L276R)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 1030290	NM_001374504.1(TMPRSS6):c.1085C>T (p.Thr362Met)	TMPRSS6 (T362M)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 917403	NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del)	TMPRSS6	Deletion (inframe_deletion)	Microcytic anemia	GPathogenic
Select item 917402	NM_001374504.1(TMPRSS6):c.336+2T>G	TMPRSS6	Single nucleotide variant (splice donor variant)	Microcytic anemia	GPathogenic
Select item 903166	NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	GUncertain significance
Select item 903165	NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg)	TMPRSS6 (S216R)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 903164	NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp)	TMPRSS6 (G219D)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
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 903103	NM_001374504.1(TMPRSS6):c.1634G>A (p.Arg545Gln)	TMPRSS6 (R545Q)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
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 903101	NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser)	TMPRSS6 (G563S)	Single nucleotide variant (missense variant)	Microcytic anemia +2 more	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 903048	NM_001374504.1(TMPRSS6):c.*251T>A	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 902365	NM_001374504.1(TMPRSS6):c.-1-218C>G	TMPRSS6	Single nucleotide variant (5 prime UTR variant +1 more)	Microcytic anemia	GUncertain significance
Select item 902364	NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe)	TMPRSS6 (L42F)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 902296	NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu)	TMPRSS6 (R251L)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 902295	NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	GUncertain significance
Select item 902294	NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met)	TMPRSS6 (V289M)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GUncertain significance
Select item 902293	NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His)	TMPRSS6 (Y310H)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 902221	NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=)	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 902219	NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	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 902217	NM_001374504.1(TMPRSS6):c.2074C>T (p.His692Tyr)	TMPRSS6 (H692Y)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
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 900685	NM_001374504.1(TMPRSS6):c.163G>T (p.Val55Leu)	TMPRSS6 (V55L)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 900684	NM_001374504.1(TMPRSS6):c.183G>A (p.Val61=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 900683	NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val)	TMPRSS6 (A71V)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 900682	NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro)	TMPRSS6 (R84P)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 900681	NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His)	TMPRSS6 (R96H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 900680	NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys)	TMPRSS6 (R103C)	Single nucleotide variant (missense variant)	Microcytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 900614	NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GUncertain significance
Select item 900613	NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly)	TMPRSS6 (R437G)	Single nucleotide variant (missense variant)	Microcytic anemia	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 +1 more	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 899548	NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val)	TMPRSS6 (M112V)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 899547	NM_001374504.1(TMPRSS6):c.390C>T (p.Ser130=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GBenign
Select item 899546	NM_001374504.1(TMPRSS6):c.406G>A (p.Glu136Lys)	TMPRSS6 (E136K)	Single nucleotide variant (missense variant)	Microcytic anemia +2 more	GConflicting classifications of pathogenicity
Select item 899545	NM_001374504.1(TMPRSS6):c.522C>T (p.Val174=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GBenign
Select item 899544	NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu)	TMPRSS6 (S177L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 899478	NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly)	TMPRSS6 (E452G)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 899477	NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 899430	NM_001374504.1(TMPRSS6):c.2250+15C>T	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia	GUncertain significance
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 899428	NM_001374504.1(TMPRSS6):c.*24G>A	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 899427	NM_001374504.1(TMPRSS6):c.*72G>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia +1 more	GLikely benign
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 773923	NM_001374504.1(TMPRSS6):c.1672+9T>C	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia +1 more	GBenign/Likely benign
Select item 631895	NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs)	TMPRSS6 (P320fs)	Insertion (frameshift variant)	Microcytic anemia	GUncertain significance
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 627580	NM_001374504.1(TMPRSS6):c.2134C>T (p.Gln712Ter)	TMPRSS6 (Q721* +2 more)	Single nucleotide variant (nonsense)	Microcytic anemia	GPathogenic
Select item 617552	NM_001374504.1(TMPRSS6):c.207C>G (p.Tyr69Ter)	TMPRSS6 (Y78* +1 more)	Single nucleotide variant (nonsense)	Microcytic anemia	GPathogenic
Select item 523295	GRCh37/hg19 Xq28(chrX:153138672-153665655)	ARHGAP4, ATP6AP1 +19 more	Copy number gain	Abnormal facial shape +3 more	GPathogenic
Select item 369379	NM_001374504.1(TMPRSS6):c.-1-241G>A	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia +1 more	GBenign
Select item 341606	NM_001374504.1(TMPRSS6):c.-1-234T>C	TMPRSS6	Single nucleotide variant (5 prime UTR variant +1 more)	Microcytic anemia +1 more	GBenign
Select item 341605	NM_001374504.1(TMPRSS6):c.127C>T (p.Arg43Cys)	TMPRSS6 (R43C)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 341604	NM_001374504.1(TMPRSS6):c.143T>A (p.Phe48Tyr)	TMPRSS6 (F48Y)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 341603	NM_001374504.1(TMPRSS6):c.243C>A (p.Gly81=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 341602	NM_001374504.1(TMPRSS6):c.411A>G (p.Gly137=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 341601	NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys)	TMPRSS6 (E151K)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GUncertain significance
Select item 341600	NM_001374504.1(TMPRSS6):c.537C>T (p.Ala179=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GBenign
Select item 341599	NM_001374504.1(TMPRSS6):c.579A>C (p.Leu193=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 341598	NM_001374504.1(TMPRSS6):c.589+9T>C	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia	GUncertain significance
Select item 341597	NM_001374504.1(TMPRSS6):c.632-8C>T	TMPRSS6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341596	NM_001374504.1(TMPRSS6):c.693C>T (p.His231=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	GUncertain significance
Select item 341595	NM_001374504.1(TMPRSS6):c.836C>T (p.Ser279Leu)	TMPRSS6 (S288L +1 more)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GBenign
Select item 341594	NM_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu)	TMPRSS6 (V280L)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 341593	NM_001374504.1(TMPRSS6):c.882G>A (p.Ala294=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 341592	NM_001374504.1(TMPRSS6):c.973+11del	TMPRSS6	Deletion (intron variant)	Microcytic anemia	GUncertain significance
Select item 341591	NM_001374504.1(TMPRSS6):c.992C>T (p.Thr331Met)	TMPRSS6 (T331M)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GLikely benign
Select item 341590	NM_001374504.1(TMPRSS6):c.1069T>C (p.Cys357Arg)	TMPRSS6 (C357R)	Single nucleotide variant (missense variant)	Microcytic anemia	GUncertain significance
Select item 341589	NM_001374504.1(TMPRSS6):c.1197-4C>G	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia	GUncertain significance
Select item 341588	NM_001374504.1(TMPRSS6):c.1206C>T (p.Gly402=)	TMPRSS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341587	NM_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia	GUncertain significance
Select item 341586	NM_001374504.1(TMPRSS6):c.1441+12G>A	TMPRSS6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 341585	NM_001374504.1(TMPRSS6):c.1441+15C>T	TMPRSS6	Single nucleotide variant (intron variant)	Microcytic anemia +1 more	GBenign
Select item 341584	NM_001374504.1(TMPRSS6):c.1493C>T (p.Pro498Leu)	TMPRSS6 (P498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 341582	NM_001374504.1(TMPRSS6):c.1636C>T (p.Pro546Ser)	TMPRSS6 (P546S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 341581	NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu)	TMPRSS6 (F686L)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 341580	NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu)	TMPRSS6 (R702L)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GConflicting classifications of pathogenicity
Select item 341579	NM_001374504.1(TMPRSS6):c.2112C>T (p.Gly704=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GBenign
Select item 341578	NM_001374504.1(TMPRSS6):c.2127C>T (p.Asn709=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Microcytic anemia +1 more	GBenign
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 341576	NM_001374504.1(TMPRSS6):c.*35T>C	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 +1 more	GBenign
Select item 341574	NM_001374504.1(TMPRSS6):c.*140C>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 341573	NM_001374504.1(TMPRSS6):c.*303T>G	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 341572	NM_001374504.1(TMPRSS6):c.*499C>T	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GUncertain significance
Select item 341571	NM_001374504.1(TMPRSS6):c.*503C>G	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia	GBenign
Select item 341570	NM_001374504.1(TMPRSS6):c.*546T>C	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 341568	NM_001374504.1(TMPRSS6):c.*580C>G	TMPRSS6	Single nucleotide variant (3 prime UTR variant)	Microcytic anemia +1 more	GBenign
Select item 262729	NM_001374504.1(TMPRSS6):c.72G>A (p.Pro24=)	TMPRSS6	Single nucleotide variant (synonymous variant)	Iron-refractory iron deficiency anemia +3 more	GBenign
Select item 262728	NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu)	TMPRSS6 (K253E +1 more)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +3 more	GBenign
Select item 262727	NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)	TMPRSS6 (V795I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 262725	NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala)	TMPRSS6 (V736A +2 more)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +3 more	GBenign

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