ClinVar for MedGen (Select 463623) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584872	NM_000506.5(F2):c.350G>A (p.Arg117Gln)	F2 (R117Q)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect	GUncertain significance
Select item 2582746	NM_000506.5(F2):c.799G>T (p.Gly267Trp)	F2 (G267W)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect	GUncertain significance
Select item 2572140	NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser)	F13A1 (A621S)	Indel (missense variant)	Thrombophilia due to thrombin defect	GUncertain significance
Select item 1676733	NM_000506.5(F2):c.1298+19G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1445361	NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)	MTHFR (R109Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GUncertain significance
Select item 1369489	NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)	MTHFR (I225V +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1098524	NM_000506.5(F2):c.1598G>A (p.Arg533Gln)	F2 (R533Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 996033	NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	MTHFR (I153M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 986165	NM_000506.5(F2):c.1621C>T (p.Arg541Trp)	F2 (R541W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 911739	NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)	F13A1 (A395V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 910504	NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)	F13A1 (A621S)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +2 more	GUncertain significance
Select item 879371	NM_000506.5(F2):c.1298+11G>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 878831	NM_000506.4(F2):c.*100C>A	F2	Single nucleotide variant	Thrombophilia due to thrombin defect +1 more	GUncertain significance
Select item 878783	NM_000506.5(F2):c.1037C>T (p.Ser346Leu)	F2 (S346L)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +1 more	GUncertain significance
Select item 878744	NM_000506.5(F2):c.285G>A (p.Thr95=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 878743	NM_000506.5(F2):c.234G>A (p.Thr78=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 878742	NM_000506.5(F2):c.191C>T (p.Thr64Met)	F2 (T64M)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +2 more	GUncertain significance
Select item 877809	NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)	HABP2 (R96W +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +3 more	GBenign/Likely benign
Select item 877790	NM_000506.5(F2):c.*9T>G	F2	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +1 more	GUncertain significance
Select item 877750	NM_000506.5(F2):c.874+13G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency +1 more	GUncertain significance
Select item 877749	NM_000506.5(F2):c.814G>A (p.Val272Met)	F2 (V272M)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +1 more	GUncertain significance
Select item 877040	NM_000130.5(F5):c.*2037G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +2 more	GConflicting classifications of pathogenicity
Select item 876842	NM_000130.5(F5):c.4347G>A (p.Pro1449=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 876694	NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)	F5 (P1816S)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 876651	NM_000130.5(F5):c.5729C>T (p.Pro1910Leu)	F5 (P1910L)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +2 more	GUncertain significance
Select item 876600	NM_000130.5(F5):c.586+11C>A	F5	Single nucleotide variant (intron variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 876513	NM_000130.5(F5):c.1158A>G (p.Gln386=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 876512	NM_000130.5(F5):c.*288T>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +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 thrombin defect +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 thrombin defect +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 thrombin defect +3 more	GUncertain significance
Select item 876149	NM_000130.5(F5):c.*1776A>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +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)	Thrombophilia due to thrombin defect +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)	Thrombophilia due to thrombin defect +6 more	GLikely benign
Select item 875952	NM_000130.5(F5):c.3961A>C (p.Ile1321Leu)	F5 (I1321L)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +2 more	GUncertain significance
Select item 875897	NM_000130.5(F5):c.4172T>C (p.Met1391Thr)	F5 (M1391T)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +2 more	GUncertain significance
Select item 875653	NM_000130.5(F5):c.522C>T (p.Ser174=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 875652	NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)	F5 (E1927G)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 875606	NM_000130.5(F5):c.628C>A (p.Gln210Lys)	F5 (Q210K)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
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 875604	NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)	F5 (R2100C)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GUncertain significance
Select item 875496	NM_000130.5(F5):c.*366A>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 875385	NM_000130.5(F5):c.*1043T>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 875334	NM_000130.5(F5):c.2037C>G (p.Phe679Leu)	F5 (F679L)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 875292	NM_000130.5(F5):c.*1257A>C	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 875238	NM_000130.5(F5):c.*1531C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 875183	NM_000130.5(F5):c.3269A>G (p.Asp1090Gly)	F5 (D1090G)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875182	NM_000130.5(F5):c.*1857G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +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 875030	NM_000130.5(F5):c.4000T>C (p.Phe1334Leu)	F5 (F1334L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 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 thrombin defect +3 more	GUncertain significance
Select item 874623	NM_000130.5(F5):c.1021C>T (p.Arg341Cys)	F5 (R341C)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 874622	NM_000130.5(F5):c.1033C>T (p.Arg345Trp)	F5 (R345W)	Single nucleotide variant (missense variant)	Factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 874621	NM_000130.5(F5):c.*75G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874570	NM_000130.5(F5):c.1297-13T>C	F5	Single nucleotide variant (intron variant)	Thrombophilia due to activated protein C resistance +4 more	GConflicting classifications of pathogenicity
Select item 874569	NM_000130.5(F5):c.*376A>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +2 more	GBenign/Likely benign
Select item 874517	NM_000130.5(F5):c.1546G>T (p.Ala516Ser)	F5 (A516S)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874467	NM_000130.5(F5):c.*872C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +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 thrombin defect +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 thrombin defect +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 thrombin defect +3 more	GUncertain significance
Select item 874312	NM_000130.5(F5):c.3089G>A (p.Arg1030Gln)	F5 (R1030Q)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GUncertain significance
Select item 874311	NM_000130.5(F5):c.*1613A>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 874310	NM_000130.5(F5):c.*1699G>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +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)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 874202	NM_000130.5(F5):c.*2351C>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874153	NM_000130.5(F5):c.3865T>C (p.Phe1289Leu)	F5 (F1289L)	Single nucleotide variant (missense variant)	Factor V deficiency +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 874095	NM_000130.5(F5):c.4082C>T (p.Pro1361Leu)	F5 (P1361L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 more	GUncertain significance
Select item 873864	NM_000130.5(F5):c.5431A>T (p.Met1811Leu)	F5 (M1811L)	Single nucleotide variant (missense variant)	F5-related condition +4 more	GConflicting classifications of pathogenicity
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 873759	NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)	F5 (G1975R)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 873758	NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)	F5 (T1978I)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GUncertain significance
Select item 873575	NM_000130.5(F5):c.1340C>G (p.Pro447Arg)	F5 (P447R)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 848996	NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)	MTHFR (E514fs +1 more)	Microsatellite (frameshift variant)	Thrombophilia due to thrombin defect +5 more	GPathogenic/Likely pathogenic
Select item 806062	NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)	MTHFR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 787578	NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)	F5 (E1530A)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +5 more	GConflicting classifications of pathogenicity
Select item 773414	NM_000130.5(F5):c.6193+7T>A	F5	Single nucleotide variant (intron variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 756801	NM_000506.5(F2):c.495G>A (p.Thr165=)	F2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 746736	NM_000130.5(F5):c.5001G>A (p.Pro1667=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 714099	NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr)	F5 (S1259Y)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GLikely benign
Select item 713561	NM_000130.5(F5):c.5245C>G (p.Leu1749Val)	F5 (L1749V)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +6 more	GConflicting classifications of pathogenicity
Select item 708725	NM_000506.5(F2):c.843C>T (p.Gly281=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 697065	NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)	MTHFR (R560C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more	GBenign/Likely benign
Select item 692073	NM_000506.5(F2):c.1787G>A (p.Arg596Gln)	F2 (R596Q)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +2 more	GPathogenic
Select item 655465	NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)	MTHFR (V615I +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GUncertain significance
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 627209	NM_000130.5(F5):c.1128G>T (p.Arg376Ser)	F5 (R376S)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +6 more	GUncertain significance
Select item 579171	NM_000130.5(F5):c.5265A>G (p.Ile1755Met)	F5 (I1755M)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +9 more	GConflicting classifications of pathogenicity
Select item 570071	NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	MTHFR (R52Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more	GPathogenic/Likely pathogenic
Select item 569550	NM_000130.5(F5):c.996A>C (p.Lys332Asn)	F5 (K332N)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 534627	NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn)	MTHFR (D234N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 498489	NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)	MTHFR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 304823	NM_000506.5(F2):c.*44G>T	F2	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +1 more	GUncertain significance
Select item 304822	NM_000506.5(F2):c.1815T>C (p.His605=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GConflicting classifications of pathogenicity

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