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Links from Gene

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD17B11
(D134Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(N163D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(I263V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(Y54N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(T52I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG2, ABRAXAS1
+59 more
Copy number loss
not specified
GPathogenic
ABCG2, AFF1
+40 more
Copy number gain
not specified
GLikely pathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
HSD17B11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSD17B11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
HSD17B11
(A299V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(K81E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(P239T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(S61I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(V145G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B11
(R276H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG2, AFF1
+31 more
Copy number loss
not specified
GPathogenic
ABCG2, ABRAXAS1
+53 more
Copy number loss
not specified
GPathogenic
ABCG2, ABRAXAS1
+63 more
Copy number loss
not specified
GPathogenic
ABCG2, ABRAXAS1
+91 more
Copy number gain
not specified
GPathogenic
ABCG2, ABRAXAS1
+58 more
Copy number loss
not provided
GPathogenic
HSD17B11, HSD17B13
+3 more
Copy number gain
not provided
GUncertain significance
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
DMP1, ABCG2
+22 more
Deletion
Autosomal dominant polycystic kidney disease
GPathogenic
GPRIN3, HELQ
+57 more
Copy number loss
See cases
GPathogenic
ABRAXAS1, AFF1
+28 more
Copy number loss
not provided
GPathogenic
AFF1, PPM1K
+12 more
Copy number gain
not provided
GUncertain significance
ABCG2, ABRAXAS1
+60 more
Copy number loss
not provided
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
ABCG2, ABRAXAS1
+47 more
Copy number loss
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ABCG2, AFF1
+126 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
AFF1, AFF1-AS1
+62 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+244 more
Copy number loss
See cases
GPathogenic
ABCG2, AFF1
+32 more
Copy number gain
See cases
GUncertain significance
ABCG2, ABRAXAS1
+251 more
Copy number loss
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
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