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Links from Gene

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPGDS
(W190C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HPGDS
(E113D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HPGDS
(H62R)
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
HPGDS
(Q28E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
HPGDS
(L119P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HPGDS
(T81P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HPGDS
(M99T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HPGDS
(A37T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HPGDS, PDLIM5
+1 more
Copy number loss
not specified
GUncertain significance
ATOH1, GRID2
+3 more
Copy number gain
not provided
GUncertain significance
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
RAP1GDS1, UNC5C
+26 more
Copy number loss
not provided
GLikely pathogenic
PDLIM5, HPGDS
Copy number gain
not provided
GUncertain significance
HPGDS
(I91V)
Single nucleotide variant
(missense variant)
not provided
GBenign
HPGDS
(M128T)
Single nucleotide variant
(missense variant)
not provided
GBenign
HPGDS
(V187I)
Single nucleotide variant
(missense variant)
not provided
GBenign
HPGDS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HPGDS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCSER1, UNC5C
+11 more
Copy number loss
not provided
GPathogenic
ABCG2, ABRAXAS1
+60 more
Copy number loss
not provided
GPathogenic
ATOH1, BMPR1B
+12 more
Copy number loss
See cases
GLikely pathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
ADH1A, ADH1B
+30 more
Copy number loss
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
HPGDS, PDLIM5
Copy number gain
See cases
GLikely benign
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
HPGDS, LOC112997547
+7 more
Copy number gain
See cases
GUncertain significance
ADH1A, ADH1B
+123 more
Copy number loss
See cases
GPathogenic
ATOH1, GRID2
+14 more
Copy number loss
See cases
GUncertain significance
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
ABCG2, ABRAXAS1
+244 more
Copy number loss
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
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