ClinVar for MedGen (Select 414541) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061991	NM_000361.3(THBD):c.667A>C (p.Met223Leu)	THBD (M223L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 1554835	NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)	THBD (T506N)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GLikely benign
Select item 1553770	NM_000361.3(THBD):c.1361T>C (p.Val454Ala)	THBD (V454A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +3 more	GConflicting classifications of pathogenicity
Select item 1520516	NM_000361.3(THBD):c.1519C>T (p.Pro507Ser)	THBD (P507S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1516186	NM_000361.3(THBD):c.1319C>T (p.Thr440Met)	THBD (T440M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1515513	NM_000361.3(THBD):c.247C>G (p.Arg83Gly)	THBD (R83G)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1501535	NM_000361.3(THBD):c.180G>A (p.Met60Ile)	THBD (M60I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1488585	NM_000361.3(THBD):c.289G>A (p.Gly97Ser)	THBD (G97S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1485061	NM_000361.3(THBD):c.415G>T (p.Ala139Ser)	THBD (A139S)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1466387	NM_000361.3(THBD):c.1614C>A (p.His538Gln)	THBD (H538Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1464704	NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)	THBD (G516R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1434632	NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)	THBD (D469G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1418731	NM_000361.3(THBD):c.866A>T (p.Asn289Ile)	THBD (N289I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1418415	NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)	THBD (Q344E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1376457	NM_000361.3(THBD):c.1499C>T (p.Thr500Met)	THBD (T500M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1374247	NM_000361.3(THBD):c.116A>T (p.Tyr39Phe)	THBD (Y39F)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1363660	NM_000361.3(THBD):c.898C>T (p.Pro300Ser)	THBD (P300S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1358168	NM_000361.3(THBD):c.241G>A (p.Val81Ile)	THBD (V81I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1163744	NM_000361.3(THBD):c.1678G>C (p.Glu560Gln)	THBD (E560Q)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1062110	NM_000361.3(THBD):c.277C>A (p.Pro93Thr)	THBD (P93T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1045160	NM_000361.3(THBD):c.119C>T (p.Pro40Leu)	THBD (P40L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1012154	NM_000361.3(THBD):c.77G>C (p.Gly26Ala)	THBD (G26A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +3 more	GUncertain significance
Select item 899346	NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)	THBD (L526P)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899345	NM_000361.3(THBD):c.1674C>G (p.Ser558=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899344	NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)	THBD (R567Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +3 more	GUncertain significance
Select item 899343	NM_000361.3(THBD):c.*1G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899342	NM_000361.3(THBD):c.*27C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899282	NM_000361.3(THBD):c.*1271G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 899281	NM_000361.3(THBD):c.*1505C>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899280	NM_000361.3(THBD):c.*1519G>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 898303	NM_000361.3(THBD):c.15G>T (p.Leu5=)	THBD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 898233	NM_000361.3(THBD):c.*169G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 898232	NM_000361.3(THBD):c.*230T>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 898179	NM_000361.3(THBD):c.*1845G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 897139	NM_000361.3(THBD):c.72G>A (p.Gln24=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 897138	NM_000361.3(THBD):c.302G>C (p.Arg101Pro)	THBD (R101P)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 897137	NM_000361.3(THBD):c.347A>C (p.Asn116Thr)	THBD (N116T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 897136	NM_000361.3(THBD):c.543G>A (p.Glu181=)	THBD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 896686	NM_000361.3(THBD):c.885C>T (p.Phe295=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 896685	NM_000361.3(THBD):c.897C>T (p.Asn299=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 896684	NM_000361.3(THBD):c.898C>A (p.Pro300Thr)	THBD (P300T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896683	NM_000361.3(THBD):c.965G>T (p.Arg322Leu)	THBD (R322L)	Single nucleotide variant (missense variant)	THBD-related condition +2 more	GConflicting classifications of pathogenicity
Select item 896606	NM_000361.3(THBD):c.*509C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 896605	NM_000361.3(THBD):c.*511T>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 895250	NM_000361.3(THBD):c.1205A>G (p.His402Arg)	THBD (H402R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 895193	NM_000361.3(THBD):c.*775G>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 895192	NM_000361.3(THBD):c.*1011C>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 895191	NM_000361.3(THBD):c.*1104A>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 809235	NM_000361.3(THBD):c.236G>C (p.Gly79Ala)	THBD (G79A)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 809234	NM_000361.3(THBD):c.282C>G (p.Pro94=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GConflicting classifications of pathogenicity
Select item 734869	NM_000361.3(THBD):c.1504G>C (p.Gly502Arg)	THBD (G502R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 627282	NM_000361.3(THBD):c.245del (p.Gly82fs)	THBD (G82fs)	Deletion (frameshift variant)	Abnormal thrombosis +1 more	GLikely pathogenic
Select item 626184	NM_000361.3(THBD):c.683C>T (p.Pro228Leu)	THBD (P228L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 438664	NM_000361.3(THBD):c.1712C>T (p.Thr571Met)	THBD (T571M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337897	NM_000361.3(THBD):c.-58G>C	THBD	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 337896	NM_000361.3(THBD):c.-38G>A	THBD	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337895	NM_000361.3(THBD):c.-12C>T	THBD	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GLikely benign
Select item 337894	NM_000361.3(THBD):c.40G>A (p.Gly14Ser)	THBD (G14S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 337893	NM_000361.3(THBD):c.331G>A (p.Val111Ile)	THBD (V111I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337892	NM_000361.3(THBD):c.656G>T (p.Gly219Val)	THBD (G219V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337891	NM_000361.3(THBD):c.675C>T (p.Thr225=)	THBD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337890	NM_000361.3(THBD):c.716C>T (p.Ala239Val)	THBD (A239V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337889	NM_000361.3(THBD):c.747C>G (p.Asn249Lys)	THBD (N249K)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337888	NM_000361.3(THBD):c.920C>T (p.Ser307Leu)	THBD (S307L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337887	NM_000361.3(THBD):c.1029A>G (p.Thr343=)	THBD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 337886	NM_000361.3(THBD):c.1083G>A (p.Glu361=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GLikely benign
Select item 337885	NM_000361.3(THBD):c.1092G>A (p.Glu364=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +3 more	GBenign
Select item 337884	NM_000361.3(THBD):c.1208G>A (p.Arg403Lys)	THBD (R403K)	Single nucleotide variant (missense variant)	THBD-related condition +3 more	GLikely benign
Select item 337883	NM_000361.3(THBD):c.1418C>T (p.Ala473Val)	THBD (A473V)	Single nucleotide variant (missense variant)	THBD-related condition +3 more	GBenign
Select item 337882	NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)	THBD (P501L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 337881	NM_000361.3(THBD):c.1528G>A (p.Val510Met)	THBD (V510M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337880	NM_000361.3(THBD):c.*26C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337879	NM_000361.3(THBD):c.*41T>C	THBD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 337878	NM_000361.3(THBD):c.*47C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337877	NM_000361.3(THBD):c.*87T>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 337876	NM_000361.3(THBD):c.*158G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GLikely benign
Select item 337875	NM_000361.3(THBD):c.*277G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337874	NM_000361.3(THBD):c.*321G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337873	NM_000361.3(THBD):c.*325T>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GLikely benign
Select item 337872	NM_000361.3(THBD):c.*338C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337871	NM_000361.3(THBD):c.*351A>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337870	NM_000361.3(THBD):c.*497G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337868	NM_000361.3(THBD):c.*520C>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337867	NM_000361.3(THBD):c.*562G>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337866	NM_000361.3(THBD):c.*663C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337865	NM_000361.3(THBD):c.*759A>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337864	NM_000361.3(THBD):c.*793A>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337862	NM_000361.3(THBD):c.*1001A>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337861	NM_000361.3(THBD):c.*1153A>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337860	NM_000361.3(THBD):c.*1171C>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337859	NM_000361.3(THBD):c.*1239G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337858	NM_000361.3(THBD):c.*1315C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337857	NM_000361.3(THBD):c.*1469C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GConflicting classifications of pathogenicity
Select item 337856	NM_000361.3(THBD):c.*1562G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337855	NM_000361.3(THBD):c.*1689C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337854	NM_000361.3(THBD):c.*1770T>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337853	NM_000361.3(THBD):c.*1869G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337852	NM_000361.3(THBD):c.*1918G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337851	NM_000361.3(THBD):c.*1993T>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337850	NM_000361.3(THBD):c.*2129C>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign

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