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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPD1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
HSPD1
(G407S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
HSPD1
(Y243C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPD1
(R221Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
+6 more
GBenign/Likely benign
HSPD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HSPD1
Single nucleotide variant
(synonymous variant)
HSPD1-related condition
+5 more
GConflicting classifications of pathogenicity
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