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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD17B4
Single nucleotide variant
(5 prime UTR variant +1 more)
Perrault syndrome
+2 more
GConflicting classifications of pathogenicity
HSD17B4, LOC129994460
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4, LOC129994460
(L13M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD17B4, LOC129994460
(G16S)
Single nucleotide variant
(missense variant +1 more)
HSD17B4-Related Disorders
+5 more
GConflicting classifications of pathogenicity
HSD17B4
(S37G)
Single nucleotide variant
(synonymous variant +3 more)
Perrault syndrome
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(C40Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Bifunctional peroxisomal enzyme deficiency
+3 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(V59I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HSD17B4
(E77G +3 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+3 more
GUncertain significance
HSD17B4
(G91R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD17B4
(I93T +3 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+3 more
GBenign
HSD17B4
(G101R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD17B4
(R106H +3 more)
Single nucleotide variant
(missense variant +3 more)
Perrault syndrome
+4 more
GBenign
HSD17B4
Single nucleotide variant
(synonymous variant +1 more)
Perrault syndrome
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(R125Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD17B4
(R132W +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(V210M +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSD17B4
(Y217F +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant +1 more)
HSD17B4-related condition
+5 more
GBenign/Likely benign
HSD17B4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSD17B4
(I256V +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSD17B4
(A268V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
(A271T +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(I288V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
(N311S +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant)
Perrault syndrome
+4 more
GBenign/Likely benign
HSD17B4
(T317M +8 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+5 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant)
Perrault syndrome
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(G326A +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
(L332F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
HSD17B4
(A353V +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSD17B4
(S369P +4 more)
Single nucleotide variant
(missense variant)
HSD17B4-related condition
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant)
HSD17B4-related condition
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(G378R +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HSD17B4
(I380V +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(S385Y +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant)
Perrault syndrome
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(A402T +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(G421E +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
(E426D +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(A427V +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(A430D +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
(D434G +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant)
HSD17B4-related condition
+3 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(M443L +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(R473W +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
HSD17B4
(R473Q +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
(V478I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
(A491T +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome
+4 more
GBenign/Likely benign
HSD17B4
(D510N +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(R542K +4 more)
Single nucleotide variant
(missense variant)
HSD17B4-related condition
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(R543P +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(K557M +4 more)
Single nucleotide variant
(missense variant)
HSD17B4-related condition
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(I559V +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome
+4 more
GBenign
HSD17B4
(R562H +4 more)
Single nucleotide variant
(missense variant)
HSD17B4-related condition
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(P548fs +4 more)
Indel
(frameshift variant)
not provided
GPathogenic
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+5 more
GBenign/Likely benign
HSD17B4
Microsatellite
(intron variant)
HSD17B4-related condition
+3 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSD17B4
Deletion
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant)
Perrault syndrome
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(G620R +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+4 more
GUncertain significance
HSD17B4
(L622F +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B4
(K681E +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(L726V +4 more)
Single nucleotide variant
(missense variant)
HSD17B4-related condition
+4 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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