"Ambry Genetics"[submitter] AND "THBD"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3325852	NM_000361.3(THBD):c.1685T>C (p.Val562Ala)	THBD (V562A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176942	NM_000361.3(THBD):c.1594C>T (p.Leu532Phe)	THBD (L532F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423381	NM_000361.3(THBD):c.1592C>T (p.Ala531Val)	THBD (A531V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397754	NM_000361.3(THBD):c.1556T>C (p.Ile519Thr)	THBD (I519T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325855	NM_000361.3(THBD):c.1522C>G (p.Pro508Ala)	THBD (P508A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397737	NM_000361.3(THBD):c.1511C>A (p.Thr504Asn)	THBD (T504N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2514770	NM_000361.3(THBD):c.1427T>G (p.Ile476Ser)	THBD (I476S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 3325853	NM_000361.3(THBD):c.1083G>T (p.Glu361Asp)	THBD (E361D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2475214	NM_000361.3(THBD):c.1028C>T (p.Thr343Ile)	THBD (T343I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290949	NM_000361.3(THBD):c.1006T>C (p.Cys336Arg)	THBD (C336R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3325854	NM_000361.3(THBD):c.833G>T (p.Arg278Leu)	THBD (R278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056606	NM_000361.3(THBD):c.815C>T (p.Ala272Val)	THBD (A272V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405793	NM_000361.3(THBD):c.791G>A (p.Arg264His)	THBD (R264H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2397740	NM_000361.3(THBD):c.711G>T (p.Arg237Ser)	THBD (R237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2615238	NM_000361.3(THBD):c.596C>T (p.Ala199Val)	THBD (A199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176944	NM_000361.3(THBD):c.589T>G (p.Phe197Val)	THBD (F197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1502810	NM_000361.3(THBD):c.584C>T (p.Thr195Ile)	THBD (T195I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2614518	NM_000361.3(THBD):c.467A>G (p.Gln156Arg)	THBD (Q156R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1469028	NM_000361.3(THBD):c.466C>G (p.Gln156Glu)	THBD (Q156E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 1916914	NM_000361.3(THBD):c.383A>G (p.Asn128Ser)	THBD (N128S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1912935	NM_000361.3(THBD):c.343A>G (p.Asn115Asp)	THBD (N115D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2623738	NM_000361.3(THBD):c.331G>T (p.Val111Phe)	THBD (V111F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293083	NM_000361.3(THBD):c.304C>T (p.Leu102Phe)	THBD (L102F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1445632	NM_000361.3(THBD):c.218T>C (p.Leu73Ser)	THBD (L73S)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1480496	NM_000361.3(THBD):c.61G>T (p.Ala21Ser)	THBD (A21S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 36