ClinVar for MedGen (Select 224783) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 201

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068376	NM_139027.6(ADAMTS13):c.3633C>G (p.Asn1211Lys)	ADAMTS13 (N1180K +3 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 +3 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	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 2690840	NM_139027.6(ADAMTS13):c.3401-40C>T	ADAMTS13	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 2690839	NM_139027.6(ADAMTS13):c.794G>C (p.Cys265Ser)	ADAMTS13, LOC130002910 (C265S)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 2585552	NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)	ADAMTS13 (E641K +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 2500705	NM_139027.6(ADAMTS13):c.1705+1G>A	ADAMTS13	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2441914	NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)	ADAMTS13 (T1067A +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 2141887	NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)	ADAMTS13 (A564D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804165	NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)	ADAMTS13 (W359* +2 more)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GPathogenic
Select item 1803283	NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)	ADAMTS13 (R734W +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 1708458	NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)	ADAMTS13 (H1109Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1705645	NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)	ADAMTS13 (G29*)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GPathogenic
Select item 1705385	NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)	ADAMTS13 (W1050* +1 more)	Single nucleotide variant (nonsense +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 1700239	NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys)	ADAMTS13 (R367C +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1700238	NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr)	ADAMTS13 (C1053Y +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1694014	NM_139027.6(ADAMTS13):c.3400+93C>T	ADAMTS13 (R1165W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1694012	NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His)	ADAMTS13 (R639H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1694011	NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys)	ADAMTS13 (R639C +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome +1 more	GUncertain significance
Select item 1677266	NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)	ADAMTS13 (W28*)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1665002	NM_139027.6(ADAMTS13):c.1309-20C>G	ADAMTS13	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome +1 more	GLikely benign
Select item 1630700	NM_139027.6(ADAMTS13):c.1786+16G>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1590075	NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)	ADAMTS13 (G951R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1589870	NM_139027.6(ADAMTS13):c.1705+14C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1502580	NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val)	ADAMTS13 (A1075V +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +1 more	GUncertain significance
Select item 1407131	NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)	ADAMTS13 (C365W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323853	NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys)	ADAMTS13 (R467C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 +2 more	GConflicting classifications of pathogenicity
Select item 1220527	NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs)	ADAMTS13 (M415fs +1 more)	Deletion (frameshift variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1220526	NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp)	ADAMTS13 (C679W +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1179187	NM_139027.6(ADAMTS13):c.330+2T>C	ADAMTS13	Single nucleotide variant (splice donor variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1163511	NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys)	ADAMTS13 (T1113K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1050245	NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln)	ADAMTS13 (R1249Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1031635	NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)	ADAMTS13 (I143V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031632	NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)	ADAMTS13 (V573I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 916296	NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln)	ADAMTS13 (R1150Q +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +1 more	GUncertain significance
Select item 914776	NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val)	ADAMTS13 (A1151V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914775	NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914774	NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile)	ADAMTS13 (V1142I +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914773	NM_139027.6(ADAMTS13):c.3400+136T>A	ADAMTS13 (L1179Q)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914717	NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln)	ADAMTS13 (R954Q +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +1 more	GUncertain significance
Select item 914716	NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp)	ADAMTS13 (R943W +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914682	NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val)	ADAMTS13 (I580V +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914642	NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)	ADAMTS13 (R355H +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome +1 more	GUncertain significance
Select item 914641	NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)	ADAMTS13 (R386C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914603	NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp)	ADAMTS13 (R125W)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914313	NM_139027.6(ADAMTS13):c.*168C>T	ADAMTS13	Single nucleotide variant (3 prime UTR variant +1 more)	Upshaw-Schulman syndrome	GBenign
Select item 914276	NM_139027.6(ADAMTS13):c.3400+32C>T	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 914275	NM_139027.6(ADAMTS13):c.3400+23C>T	ADAMTS13	Single nucleotide variant (intron variant +1 more)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 914274	NM_139027.6(ADAMTS13):c.3400+19C>T	ADAMTS13 (P1140L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914273	NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln)	ADAMTS13 (R1029Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914233	NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)	ADAMTS13 (V849I +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +3 more	GConflicting classifications of pathogenicity
Select item 914232	NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser)	ADAMTS13 (G837S +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914231	NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr)	ADAMTS13 (A758T +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914181	NM_139027.6(ADAMTS13):c.1787-8C>G	ADAMTS13	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914180	NM_139027.6(ADAMTS13):c.1706-3T>A	ADAMTS13	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914179	NM_139027.6(ADAMTS13):c.1706-4C>T	ADAMTS13	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914138	NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp)	ADAMTS13 (G302D)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 914091	NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 914090	NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met)	ADAMTS13 (V46M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 914089	NM_139027.6(ADAMTS13):c.15C>T (p.His5=)	ADAMTS13	Single nucleotide variant (synonymous variant)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 913786	NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=)	ADAMTS13	Single nucleotide variant (synonymous variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913785	NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=)	ADAMTS13	Single nucleotide variant (synonymous variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913740	NM_139027.6(ADAMTS13):c.824+8C>T	ADAMTS13, LOC130002910	Single nucleotide variant (intron variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913739	NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg)	ADAMTS13, LOC130002910 (S272R)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913738	NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser)	ADAMTS13 (G239S)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913694	NM_139027.6(ADAMTS13):c.-26C>T	ADAMTS13	Single nucleotide variant (5 prime UTR variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913693	NM_139025.4(ADAMTS13):c.-168C>T	ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	Upshaw-Schulman syndrome	GLikely benign
Select item 913181	NM_139027.6(ADAMTS13):c.*77C>T	ADAMTS13	Single nucleotide variant (3 prime UTR variant +1 more)	Upshaw-Schulman syndrome	GLikely benign
Select item 913180	NM_139027.6(ADAMTS13):c.*41G>A	ADAMTS13	Single nucleotide variant (3 prime UTR variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913179	NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn)	ADAMTS13 (K1309N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 913178	NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913177	NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg)	ADAMTS13 (Q1288R +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913176	NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser)	ADAMTS13 (N1234S +2 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913128	NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val)	ADAMTS13 (A1025V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 912816	NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met)	ADAMTS13 (T1232M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912815	NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 912814	NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 912768	NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala)	ADAMTS13 (V940A +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 912767	NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)	ADAMTS13 (V933M +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 912720	NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met)	ADAMTS13 (V666M +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 912719	NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)	ADAMTS13 (R639H +1 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 912718	NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 912717	NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance
Select item 912679	NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)	ADAMTS13	Single nucleotide variant (synonymous variant)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 912638	NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 912637	NM_139027.6(ADAMTS13):c.539+6C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 802531	NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs)	ADAMTS13 (W955fs +1 more)	Duplication (frameshift variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 773915	NM_139027.6(ADAMTS13):c.1705+7G>A	ADAMTS13	Single nucleotide variant (intron variant)	ADAMTS13-related condition +2 more	GBenign/Likely benign
Select item 768333	NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met)	ADAMTS13 (V832M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 741409	NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 734047	NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=)	ADAMTS13	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 731727	NM_139027.6(ADAMTS13):c.3400+45C>T	ADAMTS13 (R1149W)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +2 more	GLikely benign
Select item 728768	NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile)	ADAMTS13 (T1226I +2 more)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +2 more	GBenign
Select item 714444	NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu)	ADAMTS13 (P310L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 709974	NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met)	ADAMTS13 (T167M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 667364	NM_139027.6(ADAMTS13):c.415-1G>A	ADAMTS13	Single nucleotide variant (splice acceptor variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 632074	NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	ADAMTS13 (D187H)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 632037	NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile)	ADAMTS13 (V154I)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome	GUncertain significance

<< First< Prev

Page of 3