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

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1288910	NC_000009.12:g.133421761G>A	ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 365531	NM_139025.4(ADAMTS13):c.-357T>C	LOC130002909, ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	Upshaw-Schulman syndrome +1 more	GBenign/Likely benign
Select item 2815335	NM_139027.6(ADAMTS13):c.22dup (p.Ala8fs)	ADAMTS13 (A8fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 262432	NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp)	ADAMTS13 (R7W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1263439	NM_139027.6(ADAMTS13):c.106-145_106-144del	ADAMTS13	Deletion (intron variant)	not provided	GBenign
Select item 1222901	NM_139027.6(ADAMTS13):c.106-144del	ADAMTS13	Deletion (intron variant)	not provided	GBenign
Select item 1283394	NM_139027.6(ADAMTS13):c.173-211C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263626	NM_139027.6(ADAMTS13):c.173-149A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221388	NM_139027.6(ADAMTS13):c.173-67T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262428	NM_139027.6(ADAMTS13):c.173-48G>A	ADAMTS13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262427	NM_139027.6(ADAMTS13):c.173-18C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268106	NM_139027.6(ADAMTS13):c.331-42T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262446	NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 666612	NM_139027.6(ADAMTS13):c.420= (p.Ala140=)	ADAMTS13	Variation (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 632074	NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	ADAMTS13 (D187H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262452	NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 262453	NM_139027.6(ADAMTS13):c.686+4T>G	ADAMTS13	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1234497	NM_139027.6(ADAMTS13):c.686+74=	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227509	NM_139027.6(ADAMTS13):c.686+129G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183776	NM_139027.6(ADAMTS13):c.686+156A>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365541	NM_139027.6(ADAMTS13):c.824+13C>T	ADAMTS13, LOC130002910	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome +1 more	GBenign/Likely benign
Select item 1253392	NM_139027.6(ADAMTS13):c.825-170T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262455	NM_139027.6(ADAMTS13):c.987+11C>T	ADAMTS13	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1246935	NM_139027.6(ADAMTS13):c.987+69A>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259226	NM_139027.6(ADAMTS13):c.987+313T>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247384	NM_139027.6(ADAMTS13):c.988-302=	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269416	NM_139027.6(ADAMTS13):c.1092+67G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247105	NM_139027.6(ADAMTS13):c.1092+283G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269102	NM_139027.6(ADAMTS13):c.1092+319T>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 914642	NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)	ADAMTS13 (R355H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180971	NM_139027.6(ADAMTS13):c.1245-32=	ADAMTS13	Variation (intron variant)	not provided	GBenign
Select item 450994	NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)	ADAMTS13 (R421C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1280624	NM_139027.6(ADAMTS13):c.1308+252C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227851	NM_139027.6(ADAMTS13):c.1309-204G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365546	NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	ADAMTS13 (P457L +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome +2 more	GConflicting classifications of pathogenicity
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 1275308	NM_139027.6(ADAMTS13):c.1435+133G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258102	NM_139027.6(ADAMTS13):c.1436-272C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812617	NM_139027.6(ADAMTS13):c.1436-186T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304565	NM_139027.6(ADAMTS13):c.1519C>T (p.Arg507Trp)	ADAMTS13 (R476W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273838	NM_139027.6(ADAMTS13):c.1584+106C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250352	NM_139027.6(ADAMTS13):c.1585-113T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238619	NM_139027.6(ADAMTS13):c.1705+298G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224182	NM_139027.6(ADAMTS13):c.1706-255G>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249402	NM_139027.6(ADAMTS13):c.1716= (p.Thr572=)	ADAMTS13	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 1224827	NM_139027.6(ADAMTS13):c.1786+161G>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222876	NM_139027.6(ADAMTS13):c.1787-190A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290754	NM_139027.6(ADAMTS13):c.1787-26=	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262430	NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala)	ADAMTS13 (P618A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 262431	NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His)	ADAMTS13 (R625H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1182263	NM_139027.6(ADAMTS13):c.1968+43T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284087	NM_139027.6(ADAMTS13):c.1968+92C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278082	NM_139027.6(ADAMTS13):c.1968+210=	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295040	NM_139027.6(ADAMTS13):c.1969-112A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221949	NM_139027.6(ADAMTS13):c.2235-163A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2073261	NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)	ADAMTS13 (G721S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1281449	NM_139027.6(ADAMTS13):c.2280= (p.Gly760=)	ADAMTS13	Variation (no sequence alteration)	not provided	GBenign
Select item 1182572	NM_139027.6(ADAMTS13):c.2420+114C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244650	NM_139027.6(ADAMTS13):c.2421-217A>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263174	NM_139027.6(ADAMTS13):c.2421-143A>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180135	NM_139027.6(ADAMTS13):c.2611-262T>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247113	NM_139027.6(ADAMTS13):c.2611-147G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306208	NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)	ADAMTS13 (V865M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 262437	NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val)	ADAMTS13 (A900V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 812619	NM_139027.6(ADAMTS13):c.2731+77G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282897	NM_139027.6(ADAMTS13):c.2731+232C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303178	NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys)	ADAMTS13 (R885C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 914717	NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln)	ADAMTS13 (R954Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1277179	NM_139027.6(ADAMTS13):c.2861+55C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272257	NM_139027.6(ADAMTS13):c.2862-272G>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250936	NM_139027.6(ADAMTS13):c.2862-227C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262438	NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 379656	NM_139027.6(ADAMTS13):c.3044+1G>A	ADAMTS13	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1280852	NM_139027.6(ADAMTS13):c.3045-249G>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262441	NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr)	ADAMTS13 (A1033T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
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 262445	NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His)	ADAMTS13 (R1096H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 385496	NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr)	ADAMTS13 (M1241T +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +2 more	GUncertain significance
Select item 1810431	NM_139027.6(ADAMTS13):c.3623C>T (p.Ser1208Phe)	ADAMTS13 (S1208F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 365567	NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)	ADAMTS13 (G1276R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262449	NM_139027.6(ADAMTS13):c.3909+32T>C	ADAMTS13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1181416	NM_139027.6(ADAMTS13):c.3910-270A>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274501	NM_139027.6(ADAMTS13):c.3910-251G>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 85