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Links from MedGen

Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD17B4
Insertion
(splice donor variant)
Perrault syndrome 1
GUncertain significance
HSD17B4
(F7L)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome 1
GUncertain significance
HSD17B4
(C388F +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
GLikely pathogenic
HSD17B4
(H368Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
GPathogenic
HSD17B4
(Q142* +8 more)
Single nucleotide variant
(nonsense +1 more)
Perrault syndrome 1
GLikely pathogenic
HSD17B4
(G120R +5 more)
Single nucleotide variant
(missense variant +3 more)
Perrault syndrome 1
GUncertain significance
CLPP
(D134fs)
Duplication
(frameshift variant)
Perrault syndrome 1
GPathogenic
HSD17B4
(M296fs +8 more)
Deletion
(frameshift variant +2 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(E36fs +3 more)
Indel
(frameshift variant +2 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(C388* +8 more)
Single nucleotide variant
(nonsense +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(H102fs +4 more)
Deletion
(frameshift variant +2 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(A169fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(P187fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
Insertion
(nonsense +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(I217fs +8 more)
Microsatellite
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(D32fs +3 more)
Indel
(frameshift variant +2 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(L264fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(L100fs +4 more)
Indel
(frameshift variant +2 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(T350fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(L104fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(G386* +8 more)
Single nucleotide variant
(nonsense +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(S407fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(V232fs +8 more)
Insertion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(A344fs +8 more)
Deletion
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(I337fs +8 more)
Indel
(frameshift variant +1 more)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
(L352fs +8 more)
Deletion
(frameshift variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GLikely pathogenic
HSD17B4
(K105fs +8 more)
Deletion
(frameshift variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GLikely pathogenic
HSD17B4
(L100fs +8 more)
Deletion
(frameshift variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GLikely pathogenic
HSD17B4
(V109fs +8 more)
Deletion
(frameshift variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GLikely pathogenic
HSD17B4
(S4fs +4 more)
Deletion
(frameshift variant +2 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GLikely pathogenic
HSD17B4
(K106* +3 more)
Single nucleotide variant
(nonsense +2 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GLikely pathogenic
HSD17B4
(L154F +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
GPathogenic
HSD17B4
(N209fs +8 more)
Duplication
(frameshift variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+2 more
GPathogenic/Likely pathogenic
HSD17B4
(T203fs +8 more)
Duplication
(frameshift variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+2 more
GPathogenic
HSD17B4
(R23Q)
Single nucleotide variant
(missense variant +4 more)
Perrault syndrome 1
+2 more
GUncertain significance
HSD17B4
(Y132H +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
GLikely pathogenic
FBN1
(C623S)
Single nucleotide variant
(missense variant)
Perrault syndrome 1
GLikely pathogenic
FBN1
Deletion
Perrault syndrome 1
GPathogenic
HSD17B4
(Y192C +8 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GUncertain significance
HSD17B4
(F132V +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Perrault syndrome 1
GUncertain significance
HSD17B4
(Y25C)
Single nucleotide variant
(missense variant +4 more)
Perrault syndrome 1
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant +1 more)
Perrault syndrome 1
GLikely pathogenic
PRORP, PRORP-PSMA6
(N317S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSD17B4
(F479V +8 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GBenign
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GBenign
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GBenign
HSD17B4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GBenign
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GBenign
HSD17B4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSD17B4
(Q117* +5 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
HSD17B4
(P366T +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
+2 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(splice donor variant +1 more)
Perrault syndrome 1
GLikely pathogenic
HSD17B4
(L250F +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
(V109L +8 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+2 more
GPathogenic/Likely pathogenic
HSD17B4
(K505T +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
(P106T +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome
+3 more
GUncertain significance
HSD17B4
(Q186P +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant +1 more)
Perrault syndrome 1
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(V106M +4 more)
Single nucleotide variant
(missense variant +2 more)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(3 prime UTR variant +1 more)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
(A145P +8 more)
Single nucleotide variant
(missense variant +1 more)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Perrault syndrome 1
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(G703D +8 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant +2 more)
Perrault syndrome 1
+2 more
GConflicting classifications of pathogenicity
HSD17B4
(M117V +8 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(5 prime UTR variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
Bifunctional peroxisomal enzyme deficiency
+1 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(Y428* +4 more)
Single nucleotide variant
(nonsense)
Bifunctional peroxisomal enzyme deficiency
+2 more
GPathogenic
PRORP, PRORP-PSMA6
(A485V +3 more)
Single nucleotide variant
(missense variant)
Perrault syndrome 1
+1 more
GPathogenic/Likely pathogenic
HSD17B4
Deletion
(splice donor variant)
Perrault syndrome
+3 more
GPathogenic/Likely pathogenic
HSD17B4
Single nucleotide variant
(synonymous variant)
Perrault syndrome
+4 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant)
Perrault syndrome
+3 more
GConflicting classifications of pathogenicity
HSD17B4
(L332F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
HSD17B4
(E77G +3 more)
Single nucleotide variant
(missense variant +1 more)
Bifunctional peroxisomal enzyme deficiency
+3 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(intron variant)
Perrault syndrome 1
+2 more
GBenign
HSD17B4
(Q706* +4 more)
Single nucleotide variant
(nonsense)
Perrault syndrome 1
+1 more
GConflicting classifications of pathogenicity
HSD17B4
(L405F +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
+3 more
GUncertain significance
HSD17B4
(G620R +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+4 more
GUncertain significance
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+3 more
GLikely benign
HSD17B4
Deletion
(frameshift variant)
HSD17B4-related condition
+4 more
GPathogenic/Likely pathogenic
HSD17B4
(R506C +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
+4 more
GPathogenic/Likely pathogenic
HSD17B4
(D410fs +4 more)
Deletion
(frameshift variant)
Perrault syndrome 1
+1 more
GLikely pathogenic
HSD17B4
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HSD17B4
Single nucleotide variant
(3 prime UTR variant)
Perrault syndrome 1
+1 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(3 prime UTR variant)
Perrault syndrome 1
+1 more
GUncertain significance
HSD17B4
Single nucleotide variant
(3 prime UTR variant)
Perrault syndrome 1
+1 more
GLikely benign
HSD17B4
Single nucleotide variant
(synonymous variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(intron variant)
Bifunctional peroxisomal enzyme deficiency
+1 more
GUncertain significance
HSD17B4
(R543H +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome
+5 more
GConflicting classifications of pathogenicity
HSD17B4
Single nucleotide variant
(synonymous variant +1 more)
HSD17B4-related condition
+4 more
GConflicting classifications of pathogenicity
HSD17B4
(L453F +4 more)
Single nucleotide variant
(missense variant)
Bifunctional peroxisomal enzyme deficiency
+2 more
GUncertain significance
HSD17B4
Single nucleotide variant
(synonymous variant)
HSD17B4-related condition
+4 more
GConflicting classifications of pathogenicity
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