"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "THBD"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683531	NM_000361.3(THBD):c.1678G>A (p.Glu560Lys)	THBD (E560K)	Single nucleotide variant (missense variant)	not provided	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 1163745	NM_000361.3(THBD):c.1606C>T (p.Leu536Phe)	THBD (L536F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683532	NM_000361.3(THBD):c.1601C>T (p.Ala534Val)	THBD (A534V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520516	NM_000361.3(THBD):c.1519C>T (p.Pro507Ser)	THBD (P507S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 337882	NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)	THBD (P501L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 12720	NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	THBD (P495S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2683533	NM_000361.3(THBD):c.1452G>T (p.Lys484Asn)	THBD (K484N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378369	NM_000361.3(THBD):c.1447G>A (p.Gly483Ser)	THBD (G483S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163746	NM_000361.3(THBD):c.1159C>A (p.Leu387Ile)	THBD (L387I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163747	NM_000361.3(THBD):c.1117A>T (p.Asn373Tyr)	THBD (N373Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163748	NM_000361.3(THBD):c.1102C>T (p.Pro368Ser)	THBD (P368S)	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)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GConflicting classifications of pathogenicity
Select item 2683534	NM_000361.3(THBD):c.867C>A (p.Asn289Lys)	THBD (N289K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163749	NM_000361.3(THBD):c.767G>C (p.Cys256Ser)	THBD (C256S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337890	NM_000361.3(THBD):c.716C>T (p.Ala239Val)	THBD (A239V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GUncertain significance
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 +3 more	GUncertain significance
Select item 1163156	NM_000361.3(THBD):c.448G>A (p.Glu150Lys)	THBD (E150K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683535	NM_000361.3(THBD):c.371G>C (p.Arg124Pro)	THBD (R124P)	Single nucleotide variant (missense variant)	not provided	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 2683536	NM_000361.3(THBD):c.184G>T (p.Val62Leu)	THBD (V62L)	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 1374247	NM_000361.3(THBD):c.116A>T (p.Tyr39Phe)	THBD (Y39F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 2900842	NM_000361.3(THBD):c.112C>G (p.Leu38Val)	THBD (L38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683538	NM_000361.3(THBD):c.99C>A (p.His33Gln)	THBD (H33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179921	NM_000361.3(THBD):c.80G>A (p.Gly27Asp)	THBD (G27D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163157	NM_000361.3(THBD):c.23G>A (p.Gly8Asp)	THBD (G8D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27