"GeneDx"[submitter] AND "THBD"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
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 1310038	NM_000361.3(THBD):c.1705G>C (p.Glu569Gln)	THBD (E569Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500612	NM_000361.3(THBD):c.1523C>A (p.Pro508Gln)	THBD (P508Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421242	NM_000361.3(THBD):c.1496C>G (p.Pro499Arg)	THBD (P499R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12714	NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	THBD (D486Y)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign
Select item 337883	NM_000361.3(THBD):c.1418C>T (p.Ala473Val)	THBD (A473V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GBenign
Select item 2113459	NM_000361.3(THBD):c.1409C>T (p.Ser470Leu)	THBD (S470L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1307761	NM_000361.3(THBD):c.967T>C (p.Cys323Arg)	THBD (C323R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872201	NM_000361.3(THBD):c.943C>T (p.Arg315Trp)	THBD (R315W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712810	NM_000361.3(THBD):c.705G>T (p.Trp235Cys)	THBD (W235C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662212	NM_000361.3(THBD):c.465G>T (p.Glu155Asp)	THBD (E155D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449570	NM_000361.3(THBD):c.131C>T (p.Thr44Ile)	THBD (T44I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12718	NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	THBD (A43T)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 337897	NM_000361.3(THBD):c.-58G>C	THBD	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 1297275	NC_000020.11:g.23049706C>T	THBD	Single nucleotide variant	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic