"OMIM"[submitter] AND "ADAMTS13"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5820	NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs)	ADAMTS13 (E98fs)	Deletion (frameshift variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5798	NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp)	ADAMTS13 (H96D)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5800	NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys)	ADAMTS13 (R102C)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5819	NM_139027.6(ADAMTS13):c.331-1G>A	ADAMTS13	Single nucleotide variant (splice acceptor variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5817	NM_139027.6(ADAMTS13):c.414+1G>A	ADAMTS13	Single nucleotide variant (splice donor variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5801	NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile)	ADAMTS13 (T196I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 5818	NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val)	ADAMTS13 (A250V)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5812	NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro)	ADAMTS13, LOC130002910 (R268P)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5802	NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His)	ADAMTS13 (R398H +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5811	NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)	ADAMTS13 (Q449* +1 more)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GPathogenic
Select item 5814	NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	ADAMTS13 (P475S +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 5813	NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]	ADAMTS13 (C508Y +3 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5804	NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly)	ADAMTS13 (R528G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5810	NM_139027.6(ADAMTS13):c.1584+5G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 5815	NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs)	ADAMTS13 (L564fs +1 more)	Deletion (frameshift variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5809	NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys)	ADAMTS13 (R692C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5806	NM_139027.6(ADAMTS13):c.2376_2401del (p.Ala793fs)	ADAMTS13 (A762fs +1 more)	Deletion (frameshift variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5799	NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly)	ADAMTS13 (C951G +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5821	NM_139027.6(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp)	ADAMTS13	Deletion (inframe_indel +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5803	NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)	ADAMTS13 (C1024G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 68815	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13 (R1060W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5808	NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr)	ADAMTS13 (C1213Y +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5805	NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs)	ADAMTS13 (L1258fs +2 more)	Duplication (frameshift variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5807	NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs)	ADAMTS13 (E1295fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic

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Items: 24