"ACE-related condition"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 890393	NM_000789.4(ACE):c.140A>G (p.Gln47Arg)	ACE (Q47R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1050036	NM_000789.4(ACE):c.209C>T (p.Ala70Val)	ACE (A70V)	Single nucleotide variant (missense variant +1 more)	ACE-related condition +1 more	GLikely benign
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 890952	NM_000789.4(ACE):c.349C>T (p.Leu117=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GConflicting classifications of pathogenicity
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 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 2048509	NM_000789.4(ACE):c.474C>T (p.Leu158=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition +1 more	GBenign/Likely benign
Select item 888748	NM_000789.4(ACE):c.479A>G (p.Asn160Ser)	ACE (N160S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 888749	NM_000789.4(ACE):c.503T>C (p.Leu168Pro)	ACE (L168P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 888750	NM_000789.4(ACE):c.507C>T (p.Asp169=)	ACE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 711660	NM_000789.4(ACE):c.547G>A (p.Ala183Thr)	ACE (A183T)	Single nucleotide variant (missense variant)	not provided +1 more	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 1545410	NM_000789.4(ACE):c.600G>A (p.Leu200=)	ACE	Single nucleotide variant (synonymous variant +1 more)	ACE-related condition +1 more	GBenign/Likely benign
Select item 777208	NM_000789.4(ACE):c.656-9C>T	ACE	Single nucleotide variant (intron variant)	Microvascular complications of diabetes, susceptibility to, 3 +5 more	GBenign
Select item 890452	NM_000789.4(ACE):c.731A>G (p.Tyr244Cys)	ACE (Y244C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 890454	NM_000789.4(ACE):c.780C>T (p.Arg260=)	ACE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 729345	NM_000789.4(ACE):c.960G>A (p.Thr320=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 713533	NM_000789.4(ACE):c.1057G>A (p.Asp353Asn)	ACE (D353N)	Single nucleotide variant (missense variant)	ACE-related condition +1 more	GLikely benign
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 789095	NM_000789.4(ACE):c.1325G>A (p.Arg442His)	ACE (R442H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1723253	NM_000789.4(ACE):c.1511del (p.Pro504fs)	ACE (P220fs +2 more)	Deletion (frameshift variant)	ACE-related condition +1 more	GLikely pathogenic
Select item 890532	NM_000789.4(ACE):c.1681C>T (p.Arg561Trp)	ACE (R561W)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 778531	NM_000789.4(ACE):c.1768G>A (p.Gly590Ser)	ACE (G590S)	Single nucleotide variant (missense variant)	ACE-related condition +1 more	GLikely benign
Select item 324386	NM_000789.4(ACE):c.1775A>G (p.Asp592Gly)	ACE (D592G)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GBenign/Likely benign
Select item 324388	NM_000789.4(ACE):c.1872C>T (p.Pro624=)	ACE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 3061671	NM_000789.4(ACE):c.1922-198G>A	ACE	Single nucleotide variant (synonymous variant +2 more)	ACE-related condition	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 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 790184	NM_000789.4(ACE):c.2187G>T (p.Arg729=)	ACE	Single nucleotide variant (synonymous variant)	ACE-related condition +2 more	GBenign
Select item 777210	NM_000789.4(ACE):c.2382G>A (p.Ala794=)	ACE	Single nucleotide variant (synonymous variant)	Microvascular complications of diabetes, susceptibility to, 3 +5 more	GBenign/Likely benign
Select item 708841	NM_000789.4(ACE):c.2392A>G (p.Ile798Val)	ACE (I224V +1 more)	Single nucleotide variant (missense variant)	ACE-related condition +2 more	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 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 890611	NM_000789.4(ACE):c.2550C>G (p.Leu850=)	ACE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 2900936	NM_000789.4(ACE):c.2740-8G>A	ACE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 770448	NM_000789.4(ACE):c.2747C>T (p.Thr916Met)	ACE (T342M +1 more)	Single nucleotide variant (missense variant)	ACE-related condition +2 more	GBenign/Likely 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 324406	NM_000789.4(ACE):c.2754G>A (p.Arg918=)	ACE	Single nucleotide variant (synonymous variant)	ACE-related condition +1 more	GConflicting classifications of pathogenicity
Select item 892361	NM_000789.4(ACE):c.2932G>A (p.Val978Met)	ACE (V404M +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GUncertain significance
Select item 1617536	NM_000789.4(ACE):c.3045T>A (p.His1015Gln)	ACE (H1015Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2631754	NM_000789.4(ACE):c.3503+1G>A	ACE	Single nucleotide variant (splice donor variant +1 more)	ACE-related condition	GPathogenic
Select item 998355	NM_000789.4(ACE):c.3521del (p.Gly1174fs)	ACE (G1174fs +5 more)	Deletion (frameshift variant +1 more)	Hemorrhage, intracerebral, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 789096	NM_000789.4(ACE):c.3560C>T (p.Thr1187Met)	ACE (T572M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2478419	NM_000789.4(ACE):c.3603C>A (p.Phe1201Leu)	ACE (F1201L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 3041058	NM_000789.4(ACE):c.3691+6del	ACE	Deletion (intron variant)	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 3040260	NM_000789.4(ACE):c.3691+9del	ACE	Deletion (intron variant)	ACE-related condition	GLikely benign
Select item 324418	NM_000789.4(ACE):c.3721G>A (p.Gly1241Ser)	ACE (G1241S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 58