ACE[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 574

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1231511	NC_000017.11:g.63476833T>A	ACE	Single nucleotide variant	not provided	GBenign
Select item 1285756	NC_000017.11:g.63476980C>T	ACE	Single nucleotide variant	not provided	GBenign
Select item 426545	NM_000789.3(ACE):c.-35_-33delGAG	ACE	Deletion (genic upstream transcript variant)	not provided	GUncertain significance
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 1215324	NM_000789.4(ACE):c.2T>C (p.Met1Thr)	ACE (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 2171388	NM_000789.4(ACE):c.5G>A (p.Gly2Glu)	ACE (G2E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 324357	NM_000789.4(ACE):c.5G>T (p.Gly2Val)	ACE (G2V)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GBenign
Select item 208559	NM_000789.4(ACE):c.12_31del (p.Ser5fs)	ACE (S5fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2034422	NM_000789.4(ACE):c.15G>C (p.Ser5=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2213770	NM_000789.4(ACE):c.20G>T (p.Arg7Leu)	ACE (R7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 890391	NM_000789.4(ACE):c.22C>T (p.Arg8Trp)	ACE (R8W)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +4 more	GUncertain significance
Select item 890392	NM_000789.4(ACE):c.25G>A (p.Gly9Arg)	ACE (G9R)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GUncertain significance
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 871758	NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del)	ACE	Microsatellite (inframe_deletion +1 more)	Microvascular complications of diabetes, susceptibility to, 3 +3 more	GPathogenic/Likely pathogenic
Select item 1219086	NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)	ACE	Deletion (inframe_deletion +1 more)	Renal tubular dysgenesis +4 more	GConflicting classifications of pathogenicity
Select item 324358	NM_000789.4(ACE):c.44CGCTGC[3] (p.15PL[3])	ACE	Microsatellite (inframe_insertion +1 more)	Renal tubular dysgenesis +1 more	GBenign/Likely benign
Select item 1428732	NM_000789.4(ACE):c.44CGCTGC[1] (p.15PL[1])	ACE	Microsatellite (inframe_deletion +1 more)	Renal tubular dysgenesis of genetic origin +3 more	GUncertain significance
Select item 324359	NM_000789.4(ACE):c.45G>C (p.Pro15=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
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 871759	NM_000789.4(ACE):c.58_63del (p.Leu21_Leu22del)	ACE	Deletion (inframe_deletion)	not provided	GLikely pathogenic
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 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 1900442	NM_000789.4(ACE):c.67C>G (p.Pro23Ala)	ACE (P23A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1919564	NM_000789.4(ACE):c.78C>T (p.Pro26=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059438	NM_000789.4(ACE):c.80C>T (p.Ala27Val)	ACE (A27V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936385	NM_000789.4(ACE):c.82C>T (p.Leu28=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1907928	NM_000789.4(ACE):c.132C>T (p.Ala44=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890393	NM_000789.4(ACE):c.140A>G (p.Gln47Arg)	ACE (Q47R)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 324360	NM_000789.4(ACE):c.164C>T (p.Ser55Phe)	ACE (S55F)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GUncertain significance
Select item 324361	NM_000789.4(ACE):c.177G>A (p.Gln59=)	ACE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 2168795	NM_000789.4(ACE):c.189G>A (p.Gln63=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1423689	NM_000789.4(ACE):c.204C>G (p.Ser68Arg)	ACE (S68R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1050036	NM_000789.4(ACE):c.209C>T (p.Ala70Val)	ACE (A70V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 1942620	NM_000789.4(ACE):c.213C>A (p.His71Gln)	ACE (H71Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 890947	NM_000789.4(ACE):c.214G>T (p.Asp72Tyr)	ACE (D72Y)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GUncertain significance
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 1670360	NM_000789.4(ACE):c.231G>T (p.Ala77=)	ACE, LOC130061383	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890948	NM_000789.4(ACE):c.231G>A (p.Ala77=)	ACE, LOC130061383	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
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 1940593	NM_000789.4(ACE):c.232G>T (p.Glu78Ter)	ACE, LOC130061383 (E78*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 890949	NM_000789.4(ACE):c.240A>G (p.Ala80=)	ACE, LOC130061383	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 1903623	NM_000789.4(ACE):c.241A>G (p.Arg81Gly)	ACE, LOC130061383 (R81G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2990368	NM_000789.4(ACE):c.249+4G>A	ACE, LOC130061383	Single nucleotide variant (intron variant)	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 1630344	NM_000789.4(ACE):c.249+15C>G	ACE, LOC130061383	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1630345	NM_000789.4(ACE):c.249+16C>G	ACE, LOC130061383	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1295157	NM_000789.4(ACE):c.249+209G>C	ACE, LOC130061384	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2979996	NM_000789.4(ACE):c.250-19C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050472	NM_000789.4(ACE):c.250-18C>T	ACE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 890950	NM_000789.4(ACE):c.250-8C>T	ACE	Single nucleotide variant (intron variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 1359925	NM_000789.4(ACE):c.253G>A (p.Glu85Lys)	ACE (E85K)	Single nucleotide variant (missense variant +2 more)	not provided	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 1523085	NM_000789.4(ACE):c.325T>C (p.Trp109Arg)	ACE (W109R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 890951	NM_000789.4(ACE):c.344C>G (p.Pro115Arg)	ACE (P115R)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GUncertain significance
Select item 890952	NM_000789.4(ACE):c.349C>T (p.Leu117=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 892183	NM_000789.4(ACE):c.353G>T (p.Arg118Leu)	ACE (R118L)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GUncertain significance
Select item 324362	NM_000789.4(ACE):c.383G>A (p.Gly128Asp)	ACE (G128D)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +3 more	GUncertain significance
Select item 2108202	NM_000789.4(ACE):c.407A>C (p.Lys136Thr)	ACE (S58R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 324363	NM_000789.4(ACE):c.411G>T (p.Arg137=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 424033	NM_000789.4(ACE):c.412C>T (p.Gln138Ter)	ACE (Q138*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2712486	NM_000789.4(ACE):c.417+4G>A	ACE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1328413	NM_000789.4(ACE):c.417+5G>A	ACE	Single nucleotide variant (intron variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 324364	NM_000789.4(ACE):c.417+8G>A	ACE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 324365	NM_000789.4(ACE):c.417+13C>T	ACE	Single nucleotide variant (intron variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 1262835	NM_000789.4(ACE):c.417+207G>A	ACE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273999	NM_000789.4(ACE):c.418-70C>G	ACE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712424	NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)	ACE (R149fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 892184	NM_000789.4(ACE):c.447G>C (p.Arg149Ser)	ACE (R149S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1984214	NM_000789.4(ACE):c.456C>G (p.Ser152=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 892185	NM_000789.4(ACE):c.460G>A (p.Ala154Thr)	ACE (A154T)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GBenign
Select item 892186	NM_000789.4(ACE):c.465G>C (p.Lys155Asn)	ACE (K155N)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GUncertain significance
Select item 2048509	NM_000789.4(ACE):c.474C>T (p.Leu158=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 888747	NM_000789.4(ACE):c.477C>T (p.Pro159=)	ACE	Single nucleotide variant (synonymous variant)	Hemorrhage, intracerebral, susceptibility to +4 more	GConflicting classifications of pathogenicity
Select item 888748	NM_000789.4(ACE):c.479A>G (p.Asn160Ser)	ACE (N160S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1922278	NM_000789.4(ACE):c.489C>T (p.Ala163=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 888749	NM_000789.4(ACE):c.503T>C (p.Leu168Pro)	ACE (L168P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888750	NM_000789.4(ACE):c.507C>T (p.Asp169=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 1661486	NM_000789.4(ACE):c.511+23_511+36del	ACE	Deletion (intron variant)	not provided	GBenign
Select item 1178385	NM_000789.4(ACE):c.511+66A>G	ACE	Single nucleotide variant (intron variant)	Renal tubular dysgenesis +1 more	GBenign
Select item 1941966	NM_000789.4(ACE):c.512-19C>G	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 1902404	NM_000789.4(ACE):c.537G>A (p.Ser179=)	ACE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2155298	NM_000789.4(ACE):c.539G>A (p.Arg180Gln)	ACE (R180Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 711660	NM_000789.4(ACE):c.547G>A (p.Ala183Thr)	ACE (A183T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 324366	NM_000789.4(ACE):c.549C>G (p.Ala183=)	ACE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256809	NM_000789.4(ACE):c.582C>T (p.Asn194=)	ACE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1906261	NM_000789.4(ACE):c.583G>A (p.Ala195Thr)	ACE (A195T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 6