ClinVar for MedGen (Select 482606) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572117	NM_000361.3(THBD):c.844G>C (p.Ala282Pro)	THBD (A282P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437078	NM_000361.3(THBD):c.965G>A (p.Arg322Gln)	THBD (R322Q)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder	GUncertain significance
Select item 1684337	NM_000361.3(THBD):c.1351T>A (p.Cys451Ser)	THBD (C451S)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder	GUncertain significance
Select item 1684336	NM_000361.3(THBD):c.1523C>T (p.Pro508Leu)	THBD (P508L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1554835	NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)	THBD (T506N)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GLikely benign
Select item 1553770	NM_000361.3(THBD):c.1361T>C (p.Val454Ala)	THBD (V454A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1516186	NM_000361.3(THBD):c.1319C>T (p.Thr440Met)	THBD (T440M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1515513	NM_000361.3(THBD):c.247C>G (p.Arg83Gly)	THBD (R83G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +3 more	GUncertain significance
Select item 1501535	NM_000361.3(THBD):c.180G>A (p.Met60Ile)	THBD (M60I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1488585	NM_000361.3(THBD):c.289G>A (p.Gly97Ser)	THBD (G97S)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1485061	NM_000361.3(THBD):c.415G>T (p.Ala139Ser)	THBD (A139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1466387	NM_000361.3(THBD):c.1614C>A (p.His538Gln)	THBD (H538Q)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1464704	NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)	THBD (G516R)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1434632	NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)	THBD (D469G)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 1418731	NM_000361.3(THBD):c.866A>T (p.Asn289Ile)	THBD (N289I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1418415	NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)	THBD (Q344E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1376457	NM_000361.3(THBD):c.1499C>T (p.Thr500Met)	THBD (T500M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
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 1363660	NM_000361.3(THBD):c.898C>T (p.Pro300Ser)	THBD (P300S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1358168	NM_000361.3(THBD):c.241G>A (p.Val81Ile)	THBD (V81I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GUncertain significance
Select item 1297275	NC_000020.11:g.23049706C>T	THBD	Single nucleotide variant	not provided	GBenign
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)	not provided +2 more	GUncertain significance
Select item 1029800	NM_000361.3(THBD):c.994G>T (p.Glu332Ter)	THBD (E332*)	Single nucleotide variant (nonsense)	Thrombomodulin-related bleeding disorder	GUncertain significance
Select item 1012154	NM_000361.3(THBD):c.77G>C (p.Gly26Ala)	THBD (G26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 899344	NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)	THBD (R567Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	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 809235	NM_000361.3(THBD):c.236G>C (p.Gly79Ala)	THBD (G79A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 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 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 337884	NM_000361.3(THBD):c.1208G>A (p.Arg403Lys)	THBD (R403K)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +2 more	GLikely benign
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 139519	NM_000361.3(THBD):c.-151G>T	THBD	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 29903	NM_000361.3(THBD):c.1209G>T (p.Arg403Ser)	THBD (R403S)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder	GPathogenic
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 12716	NM_000361.3(THBD):c.1688dup (p.Gln564fs)	THBD (Q564fs)	Duplication (frameshift variant)	Thrombomodulin-related bleeding disorder	GPathogenic
Select item 12715	NM_000361.3(THBD):c.142G>A (p.Ala48Thr)	THBD (A48T)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder	GPathogenic
Select item 12714	NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	THBD (D486Y)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign

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Items: 40