ClinVar for Gene (Select 11093) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362788	NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)	ADAMTS13 (W924* +1 more)	Single nucleotide variant (nonsense +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 3362787	NM_139027.6(ADAMTS13):c.722del (p.Gly241fs)	ADAMTS13 (G241fs)	Deletion (frameshift variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 3357501	NM_139027.6(ADAMTS13):c.568C>T (p.Arg190Trp)	ADAMTS13 (R190W)	Single nucleotide variant (missense variant +1 more)	ADAMTS13-related disorder	GUncertain significance
Select item 3356116	NM_139027.6(ADAMTS13):c.2611-7C>T	ADAMTS13	Single nucleotide variant (intron variant)	ADAMTS13-related disorder	GLikely benign
Select item 3346102	NM_139027.6(ADAMTS13):c.167T>G (p.Leu56Ter)	ADAMTS13 (L56*)	Single nucleotide variant (nonsense +1 more)	ADAMTS13-related disorder	GLikely pathogenic
Select item 3313838	NM_020385.4(REXO4):c.49G>A (p.Val17Met)	ADAMTS13, LOC130002905 +1 more (V17M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313837	NM_020385.4(REXO4):c.273C>G (p.Ile91Met)	ADAMTS13, REXO4 (I91M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3313836	NM_020385.4(REXO4):c.164C>T (p.Ala55Val)	ADAMTS13, REXO4 (A55V)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3266625	NM_139027.6(ADAMTS13):c.392T>C (p.Met131Thr)	ADAMTS13 (M131T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266622	NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr)	ADAMTS13 (A307T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266620	NM_139027.6(ADAMTS13):c.569G>A (p.Arg190Gln)	ADAMTS13 (R190Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257555	NM_139027.6(ADAMTS13):c.3183C>T (p.Pro1061=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257453	NM_139027.6(ADAMTS13):c.3400+5G>A	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3256650	NM_139027.6(ADAMTS13):c.449C>A (p.Ser150Tyr)	ADAMTS13 (S150Y)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3256640	NM_139027.6(ADAMTS13):c.3680T>C (p.Leu1227Pro)	ADAMTS13 (L1196P +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3254625	NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)	ADAMTS13 (C242Y)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3251338	NM_139027.6(ADAMTS13):c.3848T>C (p.Ile1283Thr)	ADAMTS13 (I1252T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251337	NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)	ADAMTS13, LOC130002910 (R267fs)	Deletion (frameshift variant)	Thrombotic thrombocytopenic purpura	GPathogenic
Select item 3245398	NC_000009.11:g.(?_136313700)_(136315106_?)del	ADAMTS13	Deletion	not provided	GPathogenic
Select item 3245397	NC_000009.11:g.(?_136287564)_(136298844_?)del	ADAMTS13	Deletion	not provided	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3237409	NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)	ADAMTS13 (G1316S +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3237402	NM_139027.6(ADAMTS13):c.2011C>T (p.Pro671Ser)	ADAMTS13 (P640S +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3234066	NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)	ADAMTS13 (C1188* +2 more)	Single nucleotide variant (nonsense +1 more)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 3233836	NM_139027.6(ADAMTS13):c.3250-13C>T	ADAMTS13	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3153316	NM_020385.4(REXO4):c.464A>G (p.Asn155Ser)	ADAMTS13, REXO4 (N62S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153314	NM_020385.4(REXO4):c.352G>A (p.Glu118Lys)	ADAMTS13, REXO4 (E118K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153313	NM_020385.4(REXO4):c.265C>T (p.Leu89Phe)	ADAMTS13, REXO4 (L89F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3147125	NM_139027.6(ADAMTS13):c.871G>C (p.Gly291Arg)	ADAMTS13 (G291R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147120	NM_139027.6(ADAMTS13):c.770G>A (p.Arg257His)	ADAMTS13 (R257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147119	NM_139027.6(ADAMTS13):c.770_771delinsAA (p.Arg257Gln)	ADAMTS13 (R257Q)	Indel (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147111	NM_139027.6(ADAMTS13):c.3892A>G (p.Asn1298Asp)	ADAMTS13 (N1267D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3147081	NM_139027.6(ADAMTS13):c.3400+51A>G	ADAMTS13 (T1151A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147071	NM_139027.6(ADAMTS13):c.3002C>T (p.Pro1001Leu)	ADAMTS13 (P1001L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147066	NM_139027.6(ADAMTS13):c.2843C>T (p.Ala948Val)	ADAMTS13 (A948V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147048	NM_139027.6(ADAMTS13):c.2416G>T (p.Ala806Ser)	ADAMTS13 (A775S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147041	NM_139027.6(ADAMTS13):c.197AGAGGC[3] (p.66QR[3])	ADAMTS13	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147032	NM_139027.6(ADAMTS13):c.2116G>A (p.Val706Ile)	ADAMTS13 (V675I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147022	NM_139027.6(ADAMTS13):c.2067C>T (p.Ala689=)	ADAMTS13	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3146993	NM_139027.6(ADAMTS13):c.1491G>T (p.Lys497Asn)	ADAMTS13 (K497N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068376	NM_139027.6(ADAMTS13):c.3633C>G (p.Asn1211Lys)	ADAMTS13 (N1180K +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3065399	NM_139027.6(ADAMTS13):c.3724+1G>A	ADAMTS13	Single nucleotide variant (splice donor variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 3065326	NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)	ADAMTS13 (G1152R +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061993	NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)	ADAMTS13 (V282E)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 3058565	NM_139027.6(ADAMTS13):c.435C>A (p.Ala145=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	ADAMTS13-related disorder	GLikely benign
Select item 3047866	NM_139027.6(ADAMTS13):c.2703A>G (p.Ala901=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	ADAMTS13-related disorder	GLikely benign
Select item 3035990	NM_139027.6(ADAMTS13):c.459C>T (p.Ser153=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	ADAMTS13-related disorder	GLikely benign
Select item 3035677	NM_139027.6(ADAMTS13):c.649G>C (p.Asp217His)	ADAMTS13 (D217H)	Single nucleotide variant (missense variant +1 more)	ADAMTS13-related disorder	GUncertain significance
Select item 3030855	NM_139027.6(ADAMTS13):c.330+8C>T	ADAMTS13	Single nucleotide variant (intron variant)	ADAMTS13-related disorder	GLikely benign
Select item 3029298	NM_139027.6(ADAMTS13):c.3357G>A (p.Pro1119=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	ADAMTS13-related disorder	GLikely benign
Select item 3018646	NM_139027.6(ADAMTS13):c.3168G>A (p.Ala1056=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017595	NM_139027.6(ADAMTS13):c.3548-9G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014487	NM_139027.6(ADAMTS13):c.2048G>A (p.Arg683Gln)	ADAMTS13 (R683Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010771	NM_139027.6(ADAMTS13):c.1584+1G>A	ADAMTS13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3007080	NM_139027.6(ADAMTS13):c.3250-15C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005017	NM_139027.6(ADAMTS13):c.55C>T (p.Leu19Phe)	ADAMTS13 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004984	NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004624	NM_139027.6(ADAMTS13):c.987+12G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004505	NM_139027.6(ADAMTS13):c.1350C>T (p.Cys450=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004475	NM_139027.6(ADAMTS13):c.1092+15T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004358	NM_139027.6(ADAMTS13):c.414+18A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003935	NM_139027.6(ADAMTS13):c.415-20G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002896	NM_139027.6(ADAMTS13):c.2448C>T (p.Cys816=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002522	NM_139027.6(ADAMTS13):c.3725-16_3725-9del	ADAMTS13, LOC121366033	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3002463	NM_139027.6(ADAMTS13):c.1958C>G (p.Ala653Gly)	ADAMTS13 (A622G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001683	NM_139027.6(ADAMTS13):c.540-9C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998694	NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998139	NM_139027.6(ADAMTS13):c.3044+11C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998023	NM_139027.6(ADAMTS13):c.3909+18G>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997683	NM_139027.6(ADAMTS13):c.2050C>T (p.Gln684Ter)	ADAMTS13 (Q653* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2993637	NM_139027.6(ADAMTS13):c.3725-15A>G	ADAMTS13, LOC121366033	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993243	NM_139027.6(ADAMTS13):c.3852T>C (p.His1284=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989827	NM_139027.6(ADAMTS13):c.351C>T (p.Asp117=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989687	NM_139027.6(ADAMTS13):c.2610+16A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987578	NM_139027.6(ADAMTS13):c.2611-11A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986585	NM_139027.6(ADAMTS13):c.2862-12A>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984497	NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys)	ADAMTS13 (E1305K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2983637	NM_139027.6(ADAMTS13):c.633C>T (p.Thr211=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982587	NM_139027.6(ADAMTS13):c.447G>A (p.Ser149=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981074	NM_139027.6(ADAMTS13):c.1680C>T (p.Gly560=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976361	NM_139027.6(ADAMTS13):c.780C>T (p.Leu260=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973847	NM_139027.6(ADAMTS13):c.687-6G>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972927	NM_139027.6(ADAMTS13):c.2253C>T (p.Phe751=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971533	NM_139027.6(ADAMTS13):c.1244+15G>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970920	NM_139027.6(ADAMTS13):c.2022C>T (p.Thr674=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969712	NM_139027.6(ADAMTS13):c.1308+19dup	ADAMTS13	Duplication (intron variant)	not provided	GBenign
Select item 2969393	NM_139027.6(ADAMTS13):c.49G>A (p.Gly17Arg)	ADAMTS13 (G17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968221	NM_139027.6(ADAMTS13):c.2268C>T (p.Ala756=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968210	NM_139027.6(ADAMTS13):c.3548-19C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967925	NM_139027.6(ADAMTS13):c.1215C>T (p.Val405=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965952	NM_139027.6(ADAMTS13):c.1787-15C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965189	NM_139027.6(ADAMTS13):c.988-11C>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign

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