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Items: 1 to 100 of 869

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
AGAP4, AGAP9
+1221 more
Copy number gain
See cases
GBenign
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
CDC123, DHTKD1
+32 more
Copy number gain
See cases
GUncertain significance
DHTKD1, ECHDC3
+27 more
Copy number loss
See cases
GUncertain significance
DHTKD1, LOC130003342
+3 more
Copy number gain
See cases
GLikely benign
DHTKD1, LOC130003342
+3 more
Duplication
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
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)
not provided
+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)
2-aminoadipic 2-oxoadipic aciduria
+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
GUncertain significance
DHTKD1
(G14R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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
Single nucleotide variant
(synonymous variant)
DHTKD1-related disorder
GLikely benign
DHTKD1
(F20L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Q
+1 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)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GUncertain significance
DHTKD1
(Y24C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130003343, DHTKD1
(E27fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DHTKD1
(G32S)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1, LOC130003343
(P35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHTKD1, LOC130003343
(P38R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1, LOC130003343
(E39K)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
(E39G)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
(E42K)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHTKD1, LOC130003343
(P43T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DHTKD1, LOC130003343
(P43R)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DHTKD1, LOC130003343
(P51A)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
(P51Q)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
(V52I)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GUncertain significance
DHTKD1, LOC130003343
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
LOC130003343, DHTKD1
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1, LOC130003343
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
DHTKD1, LOC130003343
Single nucleotide variant
(intron variant)
2-aminoadipic 2-oxoadipic aciduria
GLikely benign
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)
not provided
+1 more
GUncertain significance
DHTKD1
Single nucleotide variant
(synonymous variant)
2-aminoadipic 2-oxoadipic aciduria
+1 more
GBenign/Likely benign
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)
2-aminoadipic 2-oxoadipic aciduria
+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)
2-aminoadipic 2-oxoadipic aciduria
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)
not provided
+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
(T102M)
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
(A103S)
Single nucleotide variant
(missense variant)
2-aminoadipic 2-oxoadipic aciduria
+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
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