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Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACE
(Y266*)
Single nucleotide variant
(nonsense +2 more)
Renal tubular dysgenesis of genetic origin
GLikely pathogenic
ACE
Single nucleotide variant
(splice donor variant)
Renal tubular dysgenesis of genetic origin
GLikely pathogenic
ACE
(V325fs +1 more)
Deletion
(frameshift variant +1 more)
Renal tubular dysgenesis of genetic origin
GLikely pathogenic
ACE
(M1R)
Single nucleotide variant
(missense variant +2 more)
Renal tubular dysgenesis of genetic origin
GUncertain significance
ACE
(M1I)
Single nucleotide variant
(missense variant +2 more)
Renal tubular dysgenesis of genetic origin
GLikely pathogenic
ACE
(G37R)
Single nucleotide variant
(missense variant +1 more)
Renal tubular dysgenesis of genetic origin
GUncertain significance
ACE
(Q1137* +3 more)
Single nucleotide variant
(nonsense +2 more)
Renal tubular dysgenesis of genetic origin
GPathogenic
AGTR1
(R139*)
Single nucleotide variant
(nonsense)
Renal tubular dysgenesis of genetic origin
GPathogenic/Likely pathogenic
AGT
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ACE
Single nucleotide variant
(intron variant)
Hemorrhage, intracerebral, susceptibility to
+3 more
GLikely benign
ACE
Single nucleotide variant
(synonymous variant +1 more)
Microvascular complications of diabetes, susceptibility to, 3
+3 more
GBenign/Likely benign
ACE
Single nucleotide variant
(synonymous variant)
Hemorrhage, intracerebral, susceptibility to
+3 more
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ACE, LOC130061383
Single nucleotide variant
(intron variant)
Microvascular complications of diabetes, susceptibility to, 3
+3 more
GLikely benign
ACE, LOC130061383
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
REN
Microsatellite
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
+2 more
GBenign/Likely benign
ACE
Single nucleotide variant
(synonymous variant +1 more)
Renal tubular dysgenesis of genetic origin
+3 more
GLikely benign
ACE
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
AGT
Single nucleotide variant
(synonymous variant)
Essential hypertension, genetic
+2 more
GLikely benign
AGTR1
Single nucleotide variant
(synonymous variant)
Essential hypertension, genetic
+2 more
GLikely benign
ACE
Single nucleotide variant
(intron variant)
Microvascular complications of diabetes, susceptibility to, 3
+3 more
GBenign/Likely benign
ACE
(V584M +4 more)
Single nucleotide variant
(missense variant +1 more)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
ACE
(R948H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ACE
(R288H +3 more)
Single nucleotide variant
(missense variant +2 more)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
AGTR1
Single nucleotide variant
(stop lost)
Essential hypertension, genetic
+2 more
GUncertain significance
ACE
(K841N +4 more)
Single nucleotide variant
(missense variant +1 more)
Microvascular complications of diabetes, susceptibility to, 3
+3 more
GUncertain significance
ACE
(T508N +4 more)
Single nucleotide variant
(missense variant +1 more)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
AGT
(G5S)
Single nucleotide variant
(missense variant)
Essential hypertension, genetic
+2 more
GUncertain significance
ACE
(A363V +1 more)
Single nucleotide variant
(missense variant +1 more)
Renal tubular dysgenesis of genetic origin
+3 more
GUncertain significance
ACE
Microsatellite
(inframe_deletion +1 more)
Microvascular complications of diabetes, susceptibility to, 3
+3 more
GUncertain significance
REN
(T178M)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+2 more
GUncertain significance
AGT
(D318H)
Single nucleotide variant
(missense variant)
Essential hypertension, genetic
+2 more
GUncertain significance
AGTR1
(F309L)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+2 more
GUncertain significance
ACE
(R487H +2 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+3 more
GUncertain significance
AGTR1
(I254N)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
GUncertain significance
AGTR1
(D74A)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
GUncertain significance
AGT
(R26W)
Single nucleotide variant
(missense variant)
Essential hypertension, genetic
+2 more
GConflicting classifications of pathogenicity
AGT
(P127L)
Single nucleotide variant
(missense variant)
Essential hypertension, genetic
+2 more
GUncertain significance
REN
(I77S)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+2 more
GUncertain significance
ACE
Deletion
(inframe_deletion +1 more)
Microvascular complications of diabetes, susceptibility to, 3
+4 more
GConflicting classifications of pathogenicity
ACE
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACE
(G1174fs +5 more)
Deletion
(frameshift variant +1 more)
ACE-related disorder
+3 more
GPathogenic/Likely pathogenic
AGTR1
(I73T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+2 more
GUncertain significance
AGTR1
(P233T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+2 more
GUncertain significance
ACE
(R379W)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+4 more
GUncertain significance
ACE
(R149S)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+4 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+4 more
GBenign/Likely benign
ACE, LOC130061383
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ACE
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+4 more
GBenign/Likely benign
ACE
(R561W)
Single nucleotide variant
(missense variant)
ACE-related disorder
+5 more
GBenign/Likely benign
ACE
(R8W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
ACE
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ACE
(M481L +1 more)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
ACE
(V447M +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
(P504S)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+4 more
GUncertain significance
ACE
(G197D)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+4 more
GBenign/Likely benign
AGT
Single nucleotide variant
Essential hypertension, genetic
+2 more
GUncertain significance
AGT
Single nucleotide variant
Essential hypertension, genetic
+2 more
GUncertain significance
REN
(G240R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+4 more
GUncertain significance
AGT
Single nucleotide variant
Essential hypertension, genetic
+3 more
GUncertain significance
ACE
Microsatellite
(inframe_deletion +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ACE
(V1076L +1 more)
Single nucleotide variant
(missense variant)
Microvascular complications of diabetes, susceptibility to, 3
+3 more
GConflicting classifications of pathogenicity
ACE
(R953W +1 more)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
AGT
Single nucleotide variant
not provided
+2 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant)
Microvascular complications of diabetes, susceptibility to, 3
+4 more
GBenign/Likely benign
ACE
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
ACE
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
ACE
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
AGT
Single nucleotide variant
not provided
+3 more
GLikely benign
AGT
Single nucleotide variant
not provided
+2 more
GLikely benign
AGT
Single nucleotide variant
Renal tubular dysgenesis of genetic origin
+2 more
GLikely benign
AGT
Single nucleotide variant
not provided
+4 more
GBenign/Likely benign
AGT
Single nucleotide variant
Essential hypertension, genetic
+3 more
GBenign/Likely benign
AGT
Single nucleotide variant
not provided
+2 more
GLikely benign
AGT
Single nucleotide variant
Renal tubular dysgenesis of genetic origin
+2 more
GLikely benign
ACE
(P565V +2 more)
Indel
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
ACE
(A157V +1 more)
Inversion
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+3 more
GUncertain significance
AGT
Single nucleotide variant
Renal tubular dysgenesis of genetic origin
+1 more
GUncertain significance
AGT
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AGT
Single nucleotide variant
Essential hypertension, genetic
+2 more
GPathogenic/Likely pathogenic
AGTR1
(N333S +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
AGTR1
(A149T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+4 more
GBenign/Likely benign
ACE
(V1257M +2 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
(N1036K +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ACE
(G1013A +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
Single nucleotide variant
(intron variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
(R857H +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
(M828T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ACE
(E767K +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+4 more
GUncertain significance
ACE
(A730E +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
(G639S)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+4 more
GUncertain significance
ACE
(R508Q)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+4 more
GConflicting classifications of pathogenicity
ACE
(G354R)
Single nucleotide variant
(missense variant)
Hemorrhage, intracerebral, susceptibility to
+4 more
GBenign/Likely benign
ACE
(G128D)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
ACE
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
AGT
Single nucleotide variant
not provided
+3 more
GUncertain significance
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