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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDSS1
(G24R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
PDSS1
(R28L)
Single nucleotide variant
(missense variant +1 more)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+1 more
GUncertain significance
PDSS1
Single nucleotide variant
(intron variant)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+1 more
GLikely benign
PDSS1
Single nucleotide variant
(intron variant)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+1 more
GLikely benign
PDSS1
(G99V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDSS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PDSS1
(R163H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDSS1
(D185N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS1
(K27R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS1
(R240H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS1
(E82Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS1
(A268T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS1
(V287M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDSS1
(M149V +1 more)
Single nucleotide variant
(missense variant +1 more)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+2 more
GUncertain significance
PDSS1
Single nucleotide variant
(synonymous variant +1 more)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+1 more
GLikely benign
PDSS1
(G160R +1 more)
Single nucleotide variant
(missense variant +1 more)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+1 more
GUncertain significance
PDSS1
Single nucleotide variant
(intron variant)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+2 more
GBenign/Likely benign
PDSS1
(R281G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
PDSS1
(V367I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS1
(I218V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+2 more
GConflicting classifications of pathogenicity
ABI1, PDSS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
+1 more
GBenign/Likely benign
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