ClinVar for MedGen (Select 163632) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028834	NM_004972.4(JAK2):c.1641+6T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	Acquired polycythemia vera +7 more	GConflicting classifications of pathogenicity
Select item 877040	NM_000130.5(F5):c.*2037G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +2 more	GConflicting classifications of pathogenicity
Select item 876842	NM_000130.5(F5):c.4347G>A (p.Pro1449=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +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)	Thrombophilia due to thrombin defect +3 more	GConflicting classifications of pathogenicity
Select item 876513	NM_000130.5(F5):c.1158A>G (p.Gln386=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 876512	NM_000130.5(F5):c.*288T>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 876339	NM_000130.5(F5):c.*1433G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 876290	NM_000130.5(F5):c.*1715T>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876255	NM_000130.5(F5):c.*1237G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876149	NM_000130.5(F5):c.*1776A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 876088	NM_000130.5(F5):c.*2148C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +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)	Factor V deficiency +6 more	GLikely benign
Select item 875952	NM_000130.5(F5):c.3961A>C (p.Ile1321Leu)	F5 (I1321L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 more	GUncertain significance
Select item 875897	NM_000130.5(F5):c.4172T>C (p.Met1391Thr)	F5 (M1391T)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 more	GUncertain significance
Select item 875653	NM_000130.5(F5):c.522C>T (p.Ser174=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875652	NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)	F5 (E1927G)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875606	NM_000130.5(F5):c.628C>A (p.Gln210Lys)	F5 (Q210K)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +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)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875604	NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)	F5 (R2100C)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 more	GUncertain significance
Select item 875496	NM_000130.5(F5):c.*366A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875385	NM_000130.5(F5):c.*1043T>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875334	NM_000130.5(F5):c.2037C>G (p.Phe679Leu)	F5 (F679L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +4 more	GConflicting classifications of pathogenicity
Select item 875292	NM_000130.5(F5):c.*1257A>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875238	NM_000130.5(F5):c.*1531C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +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)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875127	NM_000130.5(F5):c.3691A>C (p.Ile1231Leu)	F5 (I1231L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +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)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874768	NM_000130.5(F5):c.276T>G (p.Ala92=)	F5	Single nucleotide variant (synonymous variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874767	NM_000130.5(F5):c.281T>C (p.Val94Ala)	F5 (V94A)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874713	NM_000130.5(F5):c.5789-7A>C	F5	Single nucleotide variant (intron variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874623	NM_000130.5(F5):c.1021C>T (p.Arg341Cys)	F5 (R341C)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +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)	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)	Budd-Chiari syndrome +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 874569	NM_000130.5(F5):c.*376A>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +2 more	GBenign/Likely benign
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)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 874422	NM_000130.5(F5):c.*1132A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874373	NM_000130.5(F5):c.*1301A>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874372	NM_000130.5(F5):c.*1404G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874312	NM_000130.5(F5):c.3089G>A (p.Arg1030Gln)	F5 (R1030Q)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 more	GUncertain significance
Select item 874311	NM_000130.5(F5):c.*1613A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874310	NM_000130.5(F5):c.*1699G>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874258	NM_000130.5(F5):c.*1912C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +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 +3 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 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)	Budd-Chiari syndrome +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 873760	NM_000130.5(F5):c.566C>T (p.Pro189Leu)	F5 (P189L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +2 more	GUncertain significance
Select item 873759	NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)	F5 (G1975R)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +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)	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)	Factor V deficiency +3 more	GUncertain significance
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 746736	NM_000130.5(F5):c.5001G>A (p.Pro1667=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 716055	NM_000130.5(F5):c.2129A>G (p.His710Arg)	F5 (H710R)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 716054	NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)	F5 (E1054D)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +7 more	GConflicting classifications of pathogenicity
Select item 716052	NM_000130.5(F5):c.4923C>T (p.Leu1641=)	F5	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 716051	NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)	F5 (K2185R)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 714099	NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr)	F5 (S1259Y)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +3 more	GLikely benign
Select item 713561	NM_000130.5(F5):c.5245C>G (p.Leu1749Val)	F5 (L1749V)	Single nucleotide variant (missense variant)	not provided +6 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)	Thrombophilia due to thrombin defect +9 more	GConflicting classifications of pathogenicity
Select item 569550	NM_000130.5(F5):c.996A>C (p.Lys332Asn)	F5 (K332N)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +3 more	GConflicting classifications of pathogenicity
Select item 367159	NM_004972.4(JAK2):c.1388_1392dup	INSL6, JAK2	Duplication (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367157	NM_004972.4(JAK2):c.*1337T>C	INSL6, JAK2	Single nucleotide variant (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367154	NM_004972.4(JAK2):c.*1291GT[19]	INSL6, JAK2	Microsatellite (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367153	NM_004972.4(JAK2):c.*1291GT[23]	INSL6, JAK2	Microsatellite (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367151	NM_004972.4(JAK2):c.1288_1289insGT	INSL6, JAK2	Insertion (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367139	NM_004972.4(JAK2):c.*91TAT[1]	INSL6, JAK2	Microsatellite (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367131	NM_004972.4(JAK2):c.2762-10_2762-9del	INSL6, JAK2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367116	NM_004972.4(JAK2):c.-138C>T	JAK2, LOC130001497	Single nucleotide variant (5 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 293647	NM_000130.4(F5):c.-110C>A	F5	Single nucleotide variant	Budd-Chiari syndrome +3 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)	Congenital factor V deficiency +4 more	GBenign/Likely benign
Select item 293643	NM_000130.5(F5):c.111T>A (p.Ala37=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 293642	NM_000130.5(F5):c.158+13T>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency +4 more	GBenign/Likely benign
Select item 293641	NM_000130.5(F5):c.165T>C (p.Asn55=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +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)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293639	NM_000130.5(F5):c.524A>G (p.His175Arg)	F5 (H175R)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +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)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293637	NM_000130.5(F5):c.564G>C (p.Gly188=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +5 more	GBenign/Likely benign
Select item 293636	NM_000130.5(F5):c.738A>G (p.Thr246=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 293635	NM_000130.5(F5):c.885C>T (p.Thr295=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +5 more	GConflicting classifications of pathogenicity
Select item 293634	NM_000130.5(F5):c.886G>A (p.Ala296Thr)	F5 (A296T)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293633	NM_000130.5(F5):c.936C>T (p.Thr312=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293632	NM_000130.5(F5):c.1034G>A (p.Arg345Gln)	F5 (R345Q)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +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)	Congenital factor V deficiency +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)	Congenital factor V deficiency +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)	Congenital factor V deficiency +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)	Congenital factor V deficiency +5 more	GBenign/Likely benign

<< First< Prev

Page of 3