ClinVar for Gene (Select 1636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341107	NM_000789.4(ACE):c.21_30del (p.Arg8fs)	ACE (R8fs)	Deletion (frameshift variant +1 more)	Renal tubular dysgenesis of genetic origin	GPathogenic
Select item 3340903	NM_000789.4(ACE):c.2593G>A (p.Gly865Arg)	ACE (G291R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3250667	NM_000789.4(ACE):c.1499_1500del (p.Gln500fs)	ACE (Q216fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3237477	NM_000789.4(ACE):c.798C>A (p.Tyr266Ter)	ACE (Y266*)	Single nucleotide variant (nonsense +2 more)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic
Select item 3234989	NM_000789.4(ACE):c.1342+1G>T	ACE	Single nucleotide variant (splice donor variant)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3136377	NM_000789.4(ACE):c.700C>A (p.Pro234Thr)	ACE (P234T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136372	NM_000789.4(ACE):c.50C>G (p.Pro17Arg)	ACE (P17R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136366	NM_000789.4(ACE):c.457A>G (p.Thr153Ala)	ACE (T153A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136364	NM_000789.4(ACE):c.415C>G (p.Gln139Glu)	ACE (S60R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136357	NM_000789.4(ACE):c.3823G>A (p.Gly1275Ser)	ACE (G480S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136346	NM_000789.4(ACE):c.3578G>A (p.Ser1193Asn)	ACE (S578N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136342	NM_000789.4(ACE):c.3415C>G (p.His1139Asp)	ACE (H1139D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3136340	NM_000789.4(ACE):c.3143A>G (p.Asp1048Gly)	ACE (D764G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136331	NM_000789.4(ACE):c.275A>T (p.Glu92Val)	ACE (E92V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136328	NM_000789.4(ACE):c.2645A>G (p.Asn882Ser)	ACE (N128S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136326	NM_000789.4(ACE):c.211C>T (p.His71Tyr)	ACE (H71Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3136320	NM_000789.4(ACE):c.1996G>A (p.Glu666Lys)	ACE (E382K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3136318	NM_000789.4(ACE):c.1973G>A (p.Arg658Gln)	ACE (R374Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3136315	NM_000789.4(ACE):c.1876T>G (p.Tyr626Asp)	ACE (Y342D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136308	NM_000789.4(ACE):c.1713G>C (p.Lys571Asn)	ACE (K382N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136305	NM_000789.4(ACE):c.1712A>C (p.Lys571Thr)	ACE (K287T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136304	NM_000789.4(ACE):c.1423C>T (p.Arg475Cys)	ACE (R191C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136299	NM_000789.4(ACE):c.1239C>G (p.Asn413Lys)	ACE (N413K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136286	NM_000789.4(ACE):c.1077C>G (p.Cys359Trp)	ACE (C359W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061671	NM_000789.4(ACE):c.1922-198G>A	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related disorder	GLikely benign
Select item 3059091	NM_000789.4(ACE):c.57G>A (p.Leu19=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related disorder	GLikely benign
Select item 3058558	NM_000789.4(ACE):c.2748G>A (p.Thr916=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related disorder	GLikely benign
Select item 3053437	NM_000789.4(ACE):c.3684G>A (p.Pro1228=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related disorder	GLikely benign
Select item 3047746	NM_000789.4(ACE):c.2472G>A (p.Ser824=)	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related disorder	GLikely benign
Select item 3047091	NM_000789.4(ACE):c.459C>T (p.Thr153=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related disorder	GLikely benign
Select item 3044462	NM_000789.4(ACE):c.3691+9A>C	ACE	Single nucleotide variant (intron variant)	ACE-related disorder	GLikely benign
Select item 3041058	NM_000789.4(ACE):c.3691+6del	ACE	Deletion (intron variant)	ACE-related disorder	GLikely benign
Select item 3040260	NM_000789.4(ACE):c.3691+9del	ACE	Deletion (intron variant)	ACE-related disorder	GLikely benign
Select item 3034518	NM_000789.4(ACE):c.2655G>A (p.Ala885=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related disorder	GLikely benign
Select item 3031425	NM_000789.4(ACE):c.2538G>A (p.Gln846=)	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related disorder	GLikely benign
Select item 3029274	NM_000789.4(ACE):c.588G>A (p.Ala196=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related disorder	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 (synonymous 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 (5 prime UTR 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	GLikely benign
Select item 2897968	NM_000789.4(ACE):c.1911G>A (p.Pro637=)	ACE	Single nucleotide variant (synonymous variant)	not provided	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	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)	not provided	GLikely benign
Select item 2712486	NM_000789.4(ACE):c.417+4G>A	ACE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2712424	NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)	ACE (R149fs)	Insertion (frameshift variant +1 more)	not provided	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 +1 more	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 disorder	GUncertain significance
Select item 2635303	NM_000789.4(ACE):c.187C>T (p.Gln63Ter)	ACE (Q63*)	Single nucleotide variant (nonsense +1 more)	ACE-related disorder	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 disorder	GUncertain significance
Select item 2634506	NM_000789.4(ACE):c.59_69del (p.Leu20fs)	ACE (L20fs)	Deletion (frameshift variant +1 more)	not provided +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 disorder	GUncertain significance
Select item 2631754	NM_000789.4(ACE):c.3503+1G>A	ACE	Single nucleotide variant (splice donor variant +1 more)	ACE-related disorder	GPathogenic
Select item 2631520	NM_000789.4(ACE):c.1225dup (p.Arg409fs)	ACE (R125fs +2 more)	Duplication (frameshift variant)	ACE-related disorder	GLikely pathogenic
Select item 2629430	NM_000789.4(ACE):c.1922-199C>T	ACE (T57M)	Single nucleotide variant (missense variant +2 more)	ACE-related disorder	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

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