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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MADD
(P23R)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
MADD
(P32T)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
MADD
(R22* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely pathogenic
MADD
(R22Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(A165V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(A165G +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MADD
(R102H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MADD
(R198H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(S15* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
MADD
(A240S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(R327* +2 more)
Single nucleotide variant
(nonsense +1 more)
MADD-related disorder
+1 more
GPathogenic/Likely pathogenic
MADD
Single nucleotide variant
(synonymous variant +1 more)
Deeah syndrome
+2 more
GBenign
MADD
(T246A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(D259N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(R389W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(I451T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(R477H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MADD
(V529M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MADD
(D530G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(Q533H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MADD
(N702fs +2 more)
Duplication
(frameshift variant +2 more)
not provided
GConflicting classifications of pathogenicity
MADD
(N581S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(L631R +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(R812Q +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MADD
(Q671H +14 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(S694N +14 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(R976P +15 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(P868L +15 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MADD
(R1005G +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MADD
Single nucleotide variant
(intron variant)
not provided
GBenign
MADD
(S1032C +24 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(S1108T +41 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
MADD
(R1062H +42 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MADD
(L1142V +48 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MADD
(Q1160H +49 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(H1165R +49 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(A1248S +50 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MADD
(V1340I +39 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MADD
(P1491A +39 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
MADD
(E125Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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