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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
LOC129937944, LOC129937945
+630 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
AGTR1
Single nucleotide variant
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
Renal tubular dysgenesis
GBenign
AGTR1
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
GLikely benign
AGTR1
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
GBenign
AGTR1
Single nucleotide variant
(5 prime UTR variant +1 more)
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
(intron variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGTR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGTR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
AGTR1
Single nucleotide variant
(5 prime UTR variant +1 more)
AGTR1-related disorder
GLikely benign
AGTR1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGTR1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGTR1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGTR1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(5 prime UTR variant)
AGTR1-related disorder
GUncertain significance
AGTR1
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
+1 more
GConflicting classifications of pathogenicity
AGTR1
(R13fs)
Deletion
(frameshift variant)
AGTR1-related disorder
GUncertain significance
AGTR1
(I38fs +1 more)
Duplication
(frameshift variant)
Renal tubular dysgenesis
GLikely pathogenic
AGTR1
(I73T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+2 more
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(N46K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(I86T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
(V52G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGTR1
(M92T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(V65I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(L70I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGTR1
(D74A)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
GUncertain significance
AGTR1
(L78fs)
Deletion
(frameshift variant)
Essential hypertension, genetic
GPathogenic
AGTR1
(W84* +1 more)
Single nucleotide variant
(nonsense)
Renal tubular dysgenesis
GUncertain significance
AGTR1
(A85S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(P95fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(I103F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(I138T +1 more)
Single nucleotide variant
(missense variant)
AGTR1-related disorder
+2 more
GConflicting classifications of pathogenicity
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
Single nucleotide variant
(synonymous variant)
AGTR1-related disorder
GLikely benign
AGTR1
(A149T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
AGTR1
(R126*)
Single nucleotide variant
(nonsense)
Renal tubular dysgenesis
GPathogenic
AGTR1
(R126Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(R126P)
Single nucleotide variant
(missense variant)
Renal dysplasia, cystic, susceptibility to
+1 more
GUncertain significance
AGTR1
(M134V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(R139*)
Single nucleotide variant
(nonsense)
Renal tubular dysgenesis of genetic origin
GPathogenic/Likely pathogenic
AGTR1
(R140H)
Single nucleotide variant
(missense variant)
Essential hypertension, genetic
GPathogenic
AGTR1
(L178I +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
(L143R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(A163T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GLikely benign
AGTR1
(R202Q +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GConflicting classifications of pathogenicity
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+2 more
GBenign
AGTR1
(P192L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(L195P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(N200fs)
Duplication
(frameshift variant)
Essential hypertension
+2 more
GLikely pathogenic
AGTR1
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
(F208L)
Single nucleotide variant
(missense variant)
AGTR1-related disorder
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AGTR1
(P233fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
AGTR1
(P233T +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+2 more
GUncertain significance
AGTR1
(D236V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
(M243I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(A279S +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GBenign
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(I245V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(V246L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
(I254N)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
GUncertain significance
AGTR1
(P290L +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
(T260I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
(I266T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
(Q267R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
(G269S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(R272C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
(R307P +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GUncertain significance
AGTR1
(T282M)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GPathogenic
AGTR1
(F293fs)
Deletion
(frameshift variant)
Renal tubular dysgenesis
GLikely pathogenic
AGTR1
(N333S +1 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+3 more
GUncertain significance
AGTR1
(F309L)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+2 more
GUncertain significance
AGTR1
(L314R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+1 more
GConflicting classifications of pathogenicity
AGTR1
(K325R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AGTR1
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+1 more
GConflicting classifications of pathogenicity
AGTR1
Single nucleotide variant
(synonymous variant)
Essential hypertension, genetic
+2 more
GLikely benign
AGTR1
(R340H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
(T349I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AGTR1
(P352S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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