C2752036[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337849	NM_000361.3(THBD):c.*2143C>T	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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 337879	NM_000361.3(THBD):c.*41T>C	THBD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 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 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 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 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 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 12714	NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	THBD (D486Y)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GBenign
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 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 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 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 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 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 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 337888	NM_000361.3(THBD):c.920C>T (p.Ser307Leu)	THBD (S307L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 897136	NM_000361.3(THBD):c.543G>A (p.Glu181=)	THBD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 897138	NM_000361.3(THBD):c.302G>C (p.Arg101Pro)	THBD (R101P)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +3 more	GConflicting classifications of pathogenicity
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 12718	NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	THBD (A43T)	Single nucleotide variant (missense variant)	THBD-related condition +4 more	GConflicting classifications of pathogenicity
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 337894	NM_000361.3(THBD):c.40G>A (p.Gly14Ser)	THBD (G14S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 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 337897	NM_000361.3(THBD):c.-58G>C	THBD	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 139519	NM_000361.3(THBD):c.-151G>T	THBD	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign

ClinVar

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Items: 78