ClinVar for MedGen (Select 4633) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023672	NM_000130.5(F5):c.4072T>C (p.Ser1358Pro)	F5 (S1358P)	Single nucleotide variant (missense variant)	Congenital factor V deficiency	GUncertain significance
Select item 3022808	NM_000130.5(F5):c.1667G>A (p.Ser556Asn)	F5 (S556N)	Single nucleotide variant (missense variant)	Congenital factor V deficiency	GUncertain significance
Select item 3022422	NM_000130.5(F5):c.3951T>C (p.Gly1317=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3022065	NM_000130.5(F5):c.573T>C (p.Leu191=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3019512	NM_000130.5(F5):c.4755T>A (p.Ala1585=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3019024	NM_000130.5(F5):c.3483A>G (p.Arg1161=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3018969	NM_000130.5(F5):c.2200T>C (p.Leu734=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3018967	NM_000130.5(F5):c.795A>G (p.Glu265=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3018835	NM_000130.5(F5):c.4146A>T (p.Thr1382=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3018422	NM_000130.5(F5):c.705T>C (p.Asn235=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3017120	NM_000130.5(F5):c.5649C>T (p.Leu1883=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3016939	NM_000130.5(F5):c.240T>C (p.Ser80=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3016717	NM_000130.5(F5):c.2838A>G (p.Arg946=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3015800	NM_000130.5(F5):c.4695C>T (p.Asp1565=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3015796	NM_000130.5(F5):c.2136T>A (p.Arg712=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3015617	NM_000130.5(F5):c.4599C>T (p.Ser1533=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3015425	NM_000130.5(F5):c.4778A>T (p.Tyr1593Phe)	F5 (Y1593F)	Single nucleotide variant (missense variant)	Congenital factor V deficiency	GUncertain significance
Select item 3015310	NM_000130.5(F5):c.861C>A (p.Thr287=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3015014	NM_000130.5(F5):c.3987C>T (p.Thr1329=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3014440	NM_000130.5(F5):c.2490A>G (p.Pro830=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3014190	NM_000130.5(F5):c.5209-2A>G	F5	Single nucleotide variant (splice acceptor variant)	Congenital factor V deficiency	GLikely pathogenic
Select item 3013912	NM_000130.5(F5):c.6381A>G (p.Leu2127=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3013768	NM_000130.5(F5):c.713T>A (p.Val238Glu)	F5 (V238E)	Single nucleotide variant (missense variant)	Congenital factor V deficiency	GUncertain significance
Select item 3013529	NM_000130.5(F5):c.2119C>A (p.Arg707=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3013361	NM_000130.5(F5):c.3000G>A (p.Lys1000=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3013360	NM_000130.5(F5):c.5316A>C (p.Leu1772=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3013284	NM_000130.5(F5):c.1770T>C (p.Asn590=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3008759	NM_000130.5(F5):c.3084G>A (p.Lys1028=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3008472	NM_000130.5(F5):c.1971T>C (p.Asn657=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3008334	NM_000130.5(F5):c.1788C>T (p.Ser596=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3007089	NM_000130.5(F5):c.3078C>G (p.Leu1026=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3004301	NM_000130.5(F5):c.5652A>C (p.Leu1884=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2997041	NM_000130.5(F5):c.136C>A (p.Arg46=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2992644	NM_000130.5(F5):c.1119-12C>T	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2985804	NM_000130.5(F5):c.3582C>T (p.Thr1194=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2984792	NM_000130.5(F5):c.1317C>G (p.Ala439=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2982190	NM_000130.5(F5):c.1575C>T (p.Ile525=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2980192	NM_000130.5(F5):c.1014A>G (p.Lys338=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2980117	NM_000130.5(F5):c.4596G>A (p.Gln1532=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2979682	NM_000130.5(F5):c.2780del (p.Pro927fs)	F5 (P927fs)	Deletion (frameshift variant)	Congenital factor V deficiency	GPathogenic
Select item 2974179	NM_000130.5(F5):c.2658A>G (p.Leu886=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2972831	NM_000130.5(F5):c.6303C>G (p.Ala2101=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2972088	NM_000130.5(F5):c.4437T>C (p.Asn1479=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2971118	NM_000130.5(F5):c.2946G>A (p.Trp982Ter)	F5 (W982*)	Single nucleotide variant (nonsense)	Congenital factor V deficiency	GPathogenic
Select item 2968594	NM_000130.5(F5):c.4410T>C (p.Ser1470=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2965353	NM_000130.5(F5):c.1612-10T>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2958928	NM_000130.5(F5):c.1665A>G (p.Lys555=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2958758	NM_000130.5(F5):c.1956G>C (p.Thr652=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2958662	NM_000130.5(F5):c.731-9C>G	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2957177	NM_000130.5(F5):c.6346-5C>T	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2956469	NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)	F5 (W1882*)	Single nucleotide variant (nonsense)	Congenital factor V deficiency	GPathogenic
Select item 2955932	NM_000130.5(F5):c.587-8T>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2954659	NM_000130.5(F5):c.1842T>C (p.Ser614=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2917610	NM_000130.5(F5):c.4590G>A (p.Glu1530=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2917609	NM_000130.5(F5):c.6294C>T (p.Pro2098=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2914762	NM_000130.5(F5):c.786G>A (p.Ser262=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2909166	NM_000130.5(F5):c.5893-5T>G	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2908156	NM_000130.5(F5):c.639A>G (p.Leu213=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2907405	NM_000130.5(F5):c.933C>T (p.Leu311=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2907391	NM_000130.5(F5):c.5151G>T (p.Gly1717=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2905000	NM_000130.5(F5):c.731-9C>T	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2904412	NM_000130.5(F5):c.597_598del (p.Glu200fs)	F5 (E200fs)	Deletion (frameshift variant)	Congenital factor V deficiency	GPathogenic
Select item 2904394	NM_000130.5(F5):c.5209-10G>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2903976	NM_000130.5(F5):c.971T>C (p.Ile324Thr)	F5 (I324T)	Single nucleotide variant (missense variant)	Congenital factor V deficiency	GUncertain significance
Select item 2903049	NM_000130.5(F5):c.2799C>T (p.Leu933=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2903007	NM_000130.5(F5):c.4632G>T (p.Val1544=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2902764	NM_000130.5(F5):c.826C>T (p.Leu276=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2902697	NM_000130.5(F5):c.6117A>G (p.Arg2039=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2902272	NM_000130.5(F5):c.4020T>C (p.Ser1340=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2901956	NM_000130.5(F5):c.2793G>A (p.Leu931=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2901673	NM_000130.5(F5):c.1833C>T (p.His611=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2901625	NM_000130.5(F5):c.1797T>C (p.Thr599=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2901286	NM_000130.5(F5):c.3768A>G (p.Thr1256=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2901145	NM_000130.5(F5):c.4971+10T>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2901072	NM_000130.5(F5):c.636G>A (p.Val212=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2901067	NM_000130.5(F5):c.87A>G (p.Ala29=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2900300	NM_000130.5(F5):c.159-8A>T	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2899921	NM_000130.5(F5):c.2925C>G (p.Pro975=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2899744	NM_000130.5(F5):c.1975+10A>G	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2899743	NM_000130.5(F5):c.5511A>G (p.Gln1837=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2899736	NM_000130.5(F5):c.378T>C (p.Ala126=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2899289	NM_000130.5(F5):c.5325C>T (p.Thr1775=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2897950	NM_000130.5(F5):c.1612-10dup	F5	Duplication (intron variant)	Congenital factor V deficiency	GBenign
Select item 2897669	NM_000130.5(F5):c.2157G>A (p.Glu719=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2897668	NM_000130.5(F5):c.2136T>C (p.Arg712=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2897640	NM_000130.5(F5):c.633C>T (p.Ile211=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2896970	NM_000130.5(F5):c.120C>A (p.Gly40=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2896674	NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)	F5 (Y1931*)	Single nucleotide variant (nonsense)	Congenital factor V deficiency	GPathogenic
Select item 2896365	NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)	F5 (R1621*)	Single nucleotide variant (nonsense)	Congenital factor V deficiency	GPathogenic/Likely pathogenic
Select item 2895966	NM_000130.5(F5):c.906A>G (p.Pro302=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2895792	NM_000130.5(F5):c.5789-1G>T	F5	Single nucleotide variant (splice acceptor variant)	Congenital factor V deficiency	GLikely pathogenic
Select item 2895704	NM_000130.5(F5):c.3942A>G (p.Pro1314=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2895285	NM_000130.5(F5):c.2021del (p.Lys674fs)	F5 (K674fs)	Deletion (frameshift variant)	Congenital factor V deficiency	GPathogenic
Select item 2895081	NM_000130.5(F5):c.5571C>T (p.His1857=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2894918	NM_000130.5(F5):c.3821T>C (p.Met1274Thr)	F5 (M1274T)	Single nucleotide variant (missense variant)	Congenital factor V deficiency	GUncertain significance
Select item 2894867	NM_000130.5(F5):c.3771C>T (p.Asn1257=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2894703	NM_000130.5(F5):c.4023A>T (p.Pro1341=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2894625	NM_000130.5(F5):c.1107G>A (p.Ala369=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2894227	NM_000130.5(F5):c.420C>T (p.Asp140=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2894078	NM_000130.5(F5):c.5835T>C (p.Tyr1945=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign

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