ClinVar for Gene (Select 1636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061671	NM_000789.4(ACE):c.1922-198G>A	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related condition	GLikely benign
Select item 3059091	NM_000789.4(ACE):c.57G>A (p.Leu19=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition	GLikely benign
Select item 3058558	NM_000789.4(ACE):c.2748G>A (p.Thr916=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition	GLikely benign
Select item 3053437	NM_000789.4(ACE):c.3684G>A (p.Pro1228=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition	GLikely benign
Select item 3047746	NM_000789.4(ACE):c.2472G>A (p.Ser824=)	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related condition	GLikely benign
Select item 3047091	NM_000789.4(ACE):c.459C>T (p.Thr153=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition	GLikely benign
Select item 3044462	NM_000789.4(ACE):c.3691+9A>C	ACE	Single nucleotide variant (intron variant)	ACE-related condition	GLikely benign
Select item 3041058	NM_000789.4(ACE):c.3691+6del	ACE	Deletion (intron variant)	ACE-related condition	GLikely benign
Select item 3040260	NM_000789.4(ACE):c.3691+9del	ACE	Deletion (intron variant)	ACE-related condition	GLikely benign
Select item 3034518	NM_000789.4(ACE):c.2655G>A (p.Ala885=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition	GLikely benign
Select item 3031425	NM_000789.4(ACE):c.2538G>A (p.Gln846=)	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related condition	GLikely benign
Select item 3029274	NM_000789.4(ACE):c.588G>A (p.Ala196=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition	GLikely benign
Select item 3021047	NM_000789.4(ACE):c.3281+19G>A	ACE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020594	NM_000789.4(ACE):c.1587-13C>G	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015518	NM_000789.4(ACE):c.1314C>A (p.Gly438=)	ACE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015330	NM_000789.4(ACE):c.2100C>T (p.Tyr700=)	ACE	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3009288	NM_000789.4(ACE):c.1086G>A (p.Ser362=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003598	NM_000789.4(ACE):c.2740-14C>A	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003080	NM_000789.4(ACE):c.30G>C (p.Pro10=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001305	NM_000789.4(ACE):c.1186C>T (p.Gln396Ter)	ACE (Q112* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2996272	NM_000789.4(ACE):c.232G>C (p.Glu78Gln)	ACE, LOC130061383 (E78Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992406	NM_000789.4(ACE):c.2559T>C (p.His853=)	ACE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2990368	NM_000789.4(ACE):c.249+4G>A	ACE, LOC130061383	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988520	NM_000789.4(ACE):c.2913-17C>A	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987035	NM_000789.4(ACE):c.656-13C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984194	NM_000789.4(ACE):c.3281+20G>A	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983515	NM_000789.4(ACE):c.3507C>T (p.Thr1169=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979996	NM_000789.4(ACE):c.250-19C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973548	NM_000789.4(ACE):c.1709+17C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971207	NM_000789.4(ACE):c.3636C>T (p.Asn1212=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966865	NM_000789.4(ACE):c.3540G>A (p.Pro1180=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962097	NM_000789.4(ACE):c.2449+9C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962072	NM_000789.4(ACE):c.512-15C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957275	NM_000789.4(ACE):c.2070C>T (p.Asn690=)	ACE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2956496	NM_000789.4(ACE):c.1228C>T (p.Arg410Trp)	ACE (R126W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908348	NM_000789.4(ACE):c.3696C>A (p.Arg1232=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905114	NM_000789.4(ACE):c.2643G>C (p.Gly881=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901016	NM_000789.4(ACE):c.2005G>A (p.Glu669Lys)	ACE (E385K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2900936	NM_000789.4(ACE):c.2740-8G>A	ACE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2897968	NM_000789.4(ACE):c.1911G>A (p.Pro637=)	ACE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2881616	NM_000789.4(ACE):c.2987T>C (p.Phe996Ser)	ACE (F422S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874179	NM_000789.4(ACE):c.249+14C>T	ACE, LOC130061383	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867428	NM_000789.4(ACE):c.3708C>T (p.Pro1236=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865024	NM_000789.4(ACE):c.2076A>G (p.Gln692=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2849245	NM_000789.4(ACE):c.1586+11_1586+14dup	ACE	Duplication (intron variant)	not provided	GLikely benign
Select item 2823966	NM_000789.4(ACE):c.1118+18G>A	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784877	NM_000789.4(ACE):c.2305+16C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740183	NM_000789.4(ACE):c.1021G>A (p.Glu341Lys)	ACE (E341K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2738638	NM_000789.4(ACE):c.3221G>A (p.Trp1074Ter)	ACE (W1074* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2732147	NM_000789.4(ACE):c.546C>T (p.Tyr182=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721059	NM_000789.4(ACE):c.819C>T (p.Leu273=)	ACE (Q116*)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2720691	NM_000789.4(ACE):c.2961C>T (p.His987=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715506	NM_000789.4(ACE):c.3180C>T (p.Ile1060=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition +1 more	GLikely benign
Select item 2712486	NM_000789.4(ACE):c.417+4G>A	ACE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2712424	NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)	ACE (R149fs)	Insertion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2698160	NM_000789.4(ACE):c.3580G>A (p.Ala1194Thr)	ACE (A1005T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690829	NM_000789.4(ACE):c.991A>G (p.Thr331Ala)	ACE (T331A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690828	NM_000789.4(ACE):c.3635A>C (p.Asn1212Thr)	ACE (N1023T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2688857	NM_000789.4(ACE):c.3550C>T (p.Gln1184Ter)	ACE (Q1184* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2688850	NM_000789.4(ACE):c.3272G>A (p.Trp1091Ter)	ACE (W1091* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2662566	NM_000789.4(ACE):c.3584C>T (p.Ser1195Leu)	ACE (S1006L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648077	NM_000789.4(ACE):c.1098C>T (p.Phe366=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2635611	NM_000789.4(ACE):c.2059-26_2059-4del	ACE	Deletion (intron variant)	ACE-related condition	GUncertain significance
Select item 2635303	NM_000789.4(ACE):c.187C>T (p.Gln63Ter)	ACE (Q63*)	Single nucleotide variant (nonsense +1 more)	ACE-related condition	GLikely pathogenic
Select item 2635011	NM_000789.4(ACE):c.220A>G (p.Asn74Asp)	ACE (N74D)	Single nucleotide variant (missense variant +1 more)	ACE-related condition	GUncertain significance
Select item 2634506	NM_000789.4(ACE):c.59_69del (p.Leu20fs)	ACE (L20fs)	Deletion (frameshift variant +1 more)	ACE-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2634449	NM_000789.4(ACE):c.1420T>C (p.Trp474Arg)	ACE (W190R +2 more)	Single nucleotide variant (missense variant)	ACE-related condition	GUncertain significance
Select item 2631754	NM_000789.4(ACE):c.3503+1G>A	ACE	Single nucleotide variant (splice donor variant +1 more)	ACE-related condition	GPathogenic
Select item 2631520	NM_000789.4(ACE):c.1225dup (p.Arg409fs)	ACE (R125fs +2 more)	Duplication (frameshift variant)	ACE-related condition	GLikely pathogenic
Select item 2629430	NM_000789.4(ACE):c.1922-199C>T	ACE (T57M)	Single nucleotide variant (intron variant +2 more)	ACE-related condition	GUncertain significance
Select item 2627964	NM_000789.4(ACE):c.973del (p.Val325fs)	ACE (V325fs +1 more)	Deletion (frameshift variant +1 more)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic
Select item 2627528	NM_000789.4(ACE):c.2T>G (p.Met1Arg)	ACE (M1R)	Single nucleotide variant (missense variant +2 more)	Renal tubular dysgenesis of genetic origin	GUncertain significance
Select item 2623679	NM_000789.4(ACE):c.2969T>G (p.Met990Arg)	ACE (M236R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610882	NM_000789.4(ACE):c.2327C>T (p.Thr776Met)	ACE (T202M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601271	NM_000789.4(ACE):c.613G>A (p.Glu205Lys)	ACE (E205K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585611	NM_000789.4(ACE):c.3G>T (p.Met1Ile)	ACE (M1I)	Single nucleotide variant (missense variant +2 more)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic
Select item 2585227	NM_000789.4(ACE):c.109G>C (p.Gly37Arg)	ACE (G37R)	Single nucleotide variant (missense variant +1 more)	Renal tubular dysgenesis of genetic origin	GUncertain significance
Select item 2573840	NM_000789.4(ACE):c.793C>T (p.Arg265Ter)	ACE (P107L +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2558338	NM_000789.4(ACE):c.496T>G (p.Trp166Gly)	ACE (W166G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525095	NM_000789.4(ACE):c.3497G>A (p.Arg1166His)	ACE (R882H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2516627	NM_000789.4(ACE):c.905A>G (p.Asp302Gly)	ACE (D18G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510046	NM_000789.4(ACE):c.1339A>G (p.Thr447Ala)	ACE (T258A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506013	NM_000789.4(ACE):c.3409C>T (p.Gln1137Ter)	ACE (Q1137* +3 more)	Single nucleotide variant (nonsense +2 more)	Renal tubular dysgenesis of genetic origin	GPathogenic
Select item 2499819	NM_000789.4(ACE):c.776G>A (p.Arg259His)	ACE (R259H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2495010	NM_000789.4(ACE):c.2166G>C (p.Lys722Asn)	ACE (K148N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493194	NM_000789.4(ACE):c.1499A>G (p.Gln500Arg)	ACE (Q311R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483190	NM_000789.4(ACE):c.1226G>T (p.Arg409Leu)	ACE (R409L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478419	NM_000789.4(ACE):c.3603C>A (p.Phe1201Leu)	ACE (F1201L +5 more)	Single nucleotide variant (missense variant +1 more)	ACE-related condition +1 more	GUncertain significance
Select item 2471854	NM_000789.4(ACE):c.2192C>T (p.Ala731Val)	ACE (A157V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465652	NM_000789.4(ACE):c.3746A>C (p.Asp1249Ala)	ACE (D675A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461303	NM_000789.4(ACE):c.2416G>A (p.Val806Met)	ACE (V116M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460645	NM_000789.4(ACE):c.1445G>C (p.Arg482Pro)	ACE (R198P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414979	NM_000789.4(ACE):c.2874C>T (p.His958=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2401926	NM_000789.4(ACE):c.74A>T (p.Gln25Leu)	ACE (Q25L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367467	NM_000789.4(ACE):c.690G>T (p.Trp230Cys)	ACE (W230C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360698	NM_000789.4(ACE):c.1663C>T (p.His555Tyr)	ACE (H271Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346883	NM_000789.4(ACE):c.3857G>A (p.Arg1286His)	ACE (R1002H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2320656	NM_000789.4(ACE):c.2043G>C (p.Glu681Asp)	ACE (E107D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2311278	NM_000789.4(ACE):c.2236G>A (p.Asp746Asn)	ACE (D172N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307963	NM_000789.4(ACE):c.1234G>A (p.Ala412Thr)	ACE (A128T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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