"UniProtKB/Swiss-Prot"[submitter] AND "ADAMTS13"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68811	NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met)	ADAMTS13 (I79M)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68812	NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)	ADAMTS13 (V88M)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 68817	NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)	ADAMTS13 (S119F)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 68822	NM_139027.6(ADAMTS13):c.533T>C (p.Ile178Thr)	ADAMTS13 (I178T)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68823	NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)	ADAMTS13 (R193W)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +1 more	GLikely pathogenic
Select item 68824	NM_139027.6(ADAMTS13):c.607T>C (p.Ser203Pro)	ADAMTS13 (S203P)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68825	NM_139027.6(ADAMTS13):c.695T>A (p.Leu232Gln)	ADAMTS13 (L232Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68826	NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln)	ADAMTS13 (H234Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 68827	NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)	ADAMTS13 (D235H)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 68828	NM_139027.6(ADAMTS13):c.788C>G (p.Ser263Cys)	ADAMTS13, LOC130002910 (S263C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68829	NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys)	ADAMTS13 (Y304C)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68830	NM_139027.6(ADAMTS13):c.932G>A (p.Cys311Tyr)	ADAMTS13 (C311Y +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68798	NM_139027.6(ADAMTS13):c.1039T>A (p.Cys347Ser)	ADAMTS13 (C347S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68799	NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys)	ADAMTS13 (R349C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 68800	NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu)	ADAMTS13 (P353L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 68801	NM_139027.6(ADAMTS13):c.1170G>C (p.Trp390Cys)	ADAMTS13 (W390C +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68802	NM_139027.6(ADAMTS13):c.1520G>A (p.Arg507Gln)	ADAMTS13 (R507Q +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68803	NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr)	ADAMTS13 (C508Y +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68804	NM_139027.6(ADAMTS13):c.1574G>A (p.Gly525Asp)	ADAMTS13 (G525D +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68805	NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val)	ADAMTS13 (A596V +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombotic thrombocytopenic purpura +1 more	GPathogenic
Select item 68806	NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro)	ADAMTS13 (A606P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68807	NM_139027.6(ADAMTS13):c.1973A>G (p.Tyr658Cys)	ADAMTS13 (Y658C +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68808	NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu)	ADAMTS13 (P671L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68809	NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)	ADAMTS13 (I673F +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 68810	NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg)	ADAMTS13 (C758R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68814	NM_139027.6(ADAMTS13):c.2723G>C (p.Cys908Ser)	ADAMTS13 (C908S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68813	NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr)	ADAMTS13 (C908Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68815	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13 (R1060W +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +3 more	GPathogenic/Likely pathogenic
Select item 68816	NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)	ADAMTS13 (R1123C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 68818	NM_139027.6(ADAMTS13):c.3487C>T (p.Arg1163Trp)	ADAMTS13 (R1219W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68819	NM_139027.6(ADAMTS13):c.3548G>T (p.Gly1183Val)	ADAMTS13 (G1239V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68820	NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu)	ADAMTS13 (S1314L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 68821	NM_139027.6(ADAMTS13):c.3838C>T (p.Arg1280Trp)	ADAMTS13 (R1336W +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Items: 33