Related gene-specific medical variations for Gene (Select 1636) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1940593	NM_000789.4(ACE):c.232G>T (p.Glu78Ter)	ACE, LOC130061383 (E78*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
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 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 1630345	NM_000789.4(ACE):c.249+16C>G	ACE, LOC130061383	Single nucleotide variant (intron variant)	Microvascular complications of diabetes, susceptibility to, 3 +3 more	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 1295157	NM_000789.4(ACE):c.249+209G>C	ACE, LOC130061384	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 591742	NM_000789.4(ACE):c.1743dup (p.Gln582fs)	ACE (Q582fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591233	NM_000789.4(ACE):c.3335A>G (p.Asp1112Gly)	ACE (D1112G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591159	NM_000789.4(ACE):c.2173C>T (p.Gln725Ter)	ACE (Q725* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591134	NM_000789.4(ACE):c.1922-336dup	ACE (S12fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591015	NM_000789.4(ACE):c.1922-309C>A	ACE (Y20*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 376903	NM_000789.4(ACE):c.2881G>C (p.Ala961Pro)	ACE (A961P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235330	NM_000789.4(ACE):c.1611GTTCCA[3] (p.537QF[3])	ACE	Microsatellite (inframe_insertion)	not provided	GLikely pathogenic

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Links from Gene

Items: 22