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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACE
(R7L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(P17R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(Q25L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(H71Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ACE
(E92V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(S60R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(T153A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(W166G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(E205K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(A225S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(W230C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(P234T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(D18G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(W59C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(C359W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(A77T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACE
(Q187R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(V406I)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
ACE
(R409L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(A128T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(N413K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(L155V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(T258A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(R191C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(R198P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(Q311R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(H323Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(H271Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(T279I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACE
(K287T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(K382N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(K317R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACE
(Y342D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACE
(E354K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACE
(R374Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACE
(E382K +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACE
(N97S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ACE
(E107D +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACE
(K148N +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(A157V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(D172N +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(V66M +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(T202M +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(R88W +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACE
(V116M +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(R240Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACE
(Y534F +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACE
(N128S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(A601V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(W888C +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(A205T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(H413Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(M236R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(D1045H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ACE
(D764G +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(V880I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACE
(H1139D +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACE
(R882H +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACE
(P896L +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(S578N +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(S1006L +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACE
(F1201L +5 more)
Single nucleotide variant
(missense variant +1 more)
ACE-related disorder
+1 more
GUncertain significance
ACE
(L645P +2 more)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+2 more
GConflicting classifications of pathogenicity
ACE
(P1033L +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(D675A +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(G480S +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACE
(R1002H +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ACE
(R1006W +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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