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Items: 1 to 100 of 847

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHTKD1
(M1V)
Single nucleotide variant
(missense variant +1 more)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GConflicting classifications of pathogenicity
DHTKD1
(M1R)
Single nucleotide variant
(missense variant +1 more)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(S3C)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DHTKD1
(A8T)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(G14C)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
(G14R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
(G14A)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(A16T)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(L17F)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(P18S)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(L19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
DHTKD1-related disorder
GLikely benign
DHTKD1
(F20L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
DHTKD1
Variation
(no sequence alteration)
2-aminoadipic 2-oxoadipic aciduria
GBenign
DHTKD1
(W21C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Q
GUncertain significance
DHTKD1
(R22S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DHTKD1
(Y24C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHTKD1
(G32S)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(intron variant)
not provided
GBenign
DHTKD1
Single nucleotide variant
(intron variant)
not provided
GBenign
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
DHTKD1
(V52A)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(H54Y)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(G55S)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(Y63fs)
Duplication
(frameshift variant)
2-aminoadipic 2-oxoadipic aciduria
GPathogenic
DHTKD1
(Y63F)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(C64R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(E65Q)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Deletion
(nonsense)
2-aminoadipic 2-oxoadipic aciduria
GPathogenic
DHTKD1
(A70D)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(A70G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
DHTKD1
(A71V)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(L76P)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(F77V)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(T78A)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GBenign
DHTKD1
(G79R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(Q80P)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(Q80H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHTKD1
(A81T)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(E84D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(P87S)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(A91V)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
(V93A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(L96P)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(Q97K)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(T102A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DHTKD1
(T102M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DHTKD1
(A103S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DHTKD1
Single nucleotide variant
(splice donor variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely pathogenic
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
DHTKD1
Single nucleotide variant
(intron variant)
not provided
GBenign
DHTKD1
Single nucleotide variant
(intron variant)
not provided
GBenign
DHTKD1
Single nucleotide variant
(intron variant)
not provided
GBenign
DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
not provided
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(G109E)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(K110R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(E111fs)
Deletion
(frameshift variant)
2-aminoadipic 2-oxoadipic aciduria
GPathogenic
DHTKD1
(A113P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DHTKD1
(N123S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GBenign
DHTKD1
(Y126C)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHTKD1
(I132T)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(T134I)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(S135A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(Q140H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHTKD1
(D141E)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(D144E)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(K148R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(K148T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
DHTKD1
(R149W)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(R149Q)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1
(E151K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DHTKD1
(L153R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(K155N)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1
(T157fs)
Duplication
(frameshift variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GPathogenic/Likely pathogenic
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
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