ClinVar for MedGen (Select 396074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234890	NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)	F5 (C567Y)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 3065959	NM_000130.5(F5):c.112G>A (p.Ala38Thr)	F5 (A38T)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 2663943	NM_000130.5(F5):c.4281G>A (p.Met1427Ile)	F5 (M1427I)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 2572148	NM_000130.5(F5):c.244A>G (p.Ile82Val)	F5 (I82V)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 2572101	NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)	F5 (G2009W)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 2431036	NM_000130.5(F5):c.413dup (p.Met138fs)	F5 (M138fs)	Duplication (frameshift variant)	Thrombophilia due to activated protein C resistance	GLikely pathogenic
Select item 1703831	NM_000130.5(F5):c.1777G>T (p.Val593Leu)	F5 (V593L)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 876694	NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)	F5 (P1816S)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +5 more	GConflicting classifications of pathogenicity
Select item 876512	NM_000130.5(F5):c.*288T>C	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 876339	NM_000130.5(F5):c.*1433G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 876290	NM_000130.5(F5):c.*1715T>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 876255	NM_000130.5(F5):c.*1237G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 876149	NM_000130.5(F5):c.*1776A>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876088	NM_000130.5(F5):c.*2148C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 876019	NM_000130.5(F5):c.3810C>G (p.Ala1270=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 875953	NM_000130.5(F5):c.3952C>A (p.Gln1318Lys)	F5 (Q1318K)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +6 more	GLikely benign
Select item 875653	NM_000130.5(F5):c.522C>T (p.Ser174=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875652	NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)	F5 (E1927G)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875605	NM_000130.5(F5):c.6241C>G (p.Gln2081Glu)	F5 (Q2081E)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875496	NM_000130.5(F5):c.*366A>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875385	NM_000130.5(F5):c.*1043T>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875292	NM_000130.5(F5):c.*1257A>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875238	NM_000130.5(F5):c.*1531C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875183	NM_000130.5(F5):c.3269A>G (p.Asp1090Gly)	F5 (D1090G)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875182	NM_000130.5(F5):c.*1857G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 875127	NM_000130.5(F5):c.3691A>C (p.Ile1231Leu)	F5 (I1231L)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874864	NM_000130.5(F5):c.5144G>A (p.Arg1715Gln)	F5 (R1715Q)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874768	NM_000130.5(F5):c.276T>G (p.Ala92=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874767	NM_000130.5(F5):c.281T>C (p.Val94Ala)	F5 (V94A)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874713	NM_000130.5(F5):c.5789-7A>C	F5	Single nucleotide variant (intron variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874622	NM_000130.5(F5):c.1033C>T (p.Arg345Trp)	F5 (R345W)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 874621	NM_000130.5(F5):c.*75G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874570	NM_000130.5(F5):c.1297-13T>C	F5	Single nucleotide variant (intron variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 874517	NM_000130.5(F5):c.1546G>T (p.Ala516Ser)	F5 (A516S)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874467	NM_000130.5(F5):c.*872C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874422	NM_000130.5(F5):c.*1132A>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874373	NM_000130.5(F5):c.*1301A>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874372	NM_000130.5(F5):c.*1404G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874311	NM_000130.5(F5):c.*1613A>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874310	NM_000130.5(F5):c.*1699G>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874258	NM_000130.5(F5):c.*1912C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874203	NM_000130.5(F5):c.3751T>C (p.Leu1251=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +4 more	GUncertain significance
Select item 874202	NM_000130.5(F5):c.*2351C>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874153	NM_000130.5(F5):c.3865T>C (p.Phe1289Leu)	F5 (F1289L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874096	NM_000130.5(F5):c.4013A>C (p.Asn1338Thr)	F5 (N1338T)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 873809	NM_000130.5(F5):c.374G>A (p.Gly125Asp)	F5 (G125D)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 873758	NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)	F5 (T1978I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 873575	NM_000130.5(F5):c.1340C>G (p.Pro447Arg)	F5 (P447R)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 787578	NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)	F5 (E1530A)	Single nucleotide variant (missense variant)	F5-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 716055	NM_000130.5(F5):c.2129A>G (p.His710Arg)	F5 (H710R)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 1 +6 more	GBenign
Select item 716054	NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)	F5 (E1054D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 716052	NM_000130.5(F5):c.4923C>T (p.Leu1641=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 716051	NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)	F5 (K2185R)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 713561	NM_000130.5(F5):c.5245C>G (p.Leu1749Val)	F5 (L1749V)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +5 more	GConflicting classifications of pathogenicity
Select item 632086	NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)	F5 (W1882*)	Single nucleotide variant (nonsense)	Thrombophilia due to activated protein C resistance +2 more	GConflicting classifications of pathogenicity
Select item 627349	NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)	F5 (G2060D)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GConflicting classifications of pathogenicity
Select item 627264	NM_000130.5(F5):c.1830_1831dup (p.His611fs)	F5 (H611fs)	Duplication (frameshift variant)	Factor V deficiency +1 more	GPathogenic/Likely pathogenic
Select item 627229	NM_000130.5(F5):c.1321C>T (p.Arg441Cys)	F5 (R441C)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +1 more	GConflicting classifications of pathogenicity
Select item 627209	NM_000130.5(F5):c.1128G>T (p.Arg376Ser)	F5 (R376S)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +6 more	GUncertain significance
Select item 579171	NM_000130.5(F5):c.5265A>G (p.Ile1755Met)	F5 (I1755M)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +9 more	GConflicting classifications of pathogenicity
Select item 293647	NM_000130.4(F5):c.-110C>A	F5	Single nucleotide variant	Thrombophilia due to thrombin defect +4 more	GUncertain significance
Select item 293646	NM_000130.5(F5):c.-84G>A	F5	Single nucleotide variant (5 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293645	NM_000130.5(F5):c.-40T>C	F5	Single nucleotide variant (5 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293644	NM_000130.5(F5):c.43G>A (p.Gly15Ser)	F5 (G15S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 293643	NM_000130.5(F5):c.111T>A (p.Ala37=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293642	NM_000130.5(F5):c.158+13T>C	F5	Single nucleotide variant (intron variant)	Budd-Chiari syndrome +4 more	GBenign/Likely benign
Select item 293641	NM_000130.5(F5):c.165T>C (p.Asn55=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293640	NM_000130.5(F5):c.437G>A (p.Arg146Gln)	F5 (R146Q)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293639	NM_000130.5(F5):c.524A>G (p.His175Arg)	F5 (H175R)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +5 more	GConflicting classifications of pathogenicity
Select item 293638	NM_000130.5(F5):c.538G>A (p.Glu180Lys)	F5 (E180K)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293637	NM_000130.5(F5):c.564G>C (p.Gly188=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +5 more	GBenign/Likely benign
Select item 293636	NM_000130.5(F5):c.738A>G (p.Thr246=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293635	NM_000130.5(F5):c.885C>T (p.Thr295=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293634	NM_000130.5(F5):c.886G>A (p.Ala296Thr)	F5 (A296T)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293633	NM_000130.5(F5):c.936C>T (p.Thr312=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293632	NM_000130.5(F5):c.1034G>A (p.Arg345Gln)	F5 (R345Q)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293631	NM_000130.5(F5):c.1106C>T (p.Ala369Val)	F5 (A369V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 293630	NM_000130.5(F5):c.1300G>A (p.Val434Met)	F5 (V434M)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +5 more	GConflicting classifications of pathogenicity
Select item 293629	NM_000130.5(F5):c.1391C>T (p.Thr464Ile)	F5 (T464I)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293628	NM_000130.5(F5):c.1538G>A (p.Arg513Lys)	F5 (R513K)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 293627	NM_000130.5(F5):c.1545C>T (p.Ile515=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293626	NM_000130.5(F5):c.1624A>G (p.Ile542Val)	F5 (I542V)	Single nucleotide variant (missense variant)	Factor V deficiency +4 more	GUncertain significance
Select item 293625	NM_000130.5(F5):c.1659G>A (p.Glu553=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293624	NM_000130.5(F5):c.1785G>A (p.Glu595=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 293623	NM_000130.5(F5):c.2042A>G (p.Asp681Gly)	F5 (D681G)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293621	NM_000130.5(F5):c.2222A>G (p.Asn741Ser)	F5 (N741S)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +6 more	GConflicting classifications of pathogenicity
Select item 293620	NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)	F5 (E750del)	Microsatellite (inframe_deletion)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293619	NM_000130.5(F5):c.2743A>T (p.Thr915Ser)	F5 (T915S)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +5 more	GBenign/Likely benign
Select item 293618	NM_000130.5(F5):c.2864G>T (p.Ser955Ile)	F5 (S955I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 293617	NM_000130.5(F5):c.2868T>C (p.Tyr956=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +5 more	GConflicting classifications of pathogenicity
Select item 293616	NM_000130.5(F5):c.2906A>G (p.Asn969Ser)	F5 (N969S)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293615	NM_000130.5(F5):c.2925C>T (p.Pro975=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to activated protein C resistance +5 more	GBenign/Likely benign
Select item 293614	NM_000130.5(F5):c.3211C>T (p.His1071Tyr)	F5 (H1071Y)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293613	NM_000130.5(F5):c.3255A>C (p.Thr1085=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 293612	NM_000130.5(F5):c.3261C>G (p.Pro1087=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293611	NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr)	F5 (N1103Y)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293610	NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr)	F5 (S1104Y)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293609	NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)	F5 (D1134E)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +5 more	GConflicting classifications of pathogenicity
Select item 293608	NM_000130.5(F5):c.3438C>G (p.His1146Gln)	F5 (H1146Q)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 293607	NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)	F5 (S1148P)	Single nucleotide variant (missense variant)	Factor V deficiency +4 more	GConflicting classifications of pathogenicity

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