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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPD1
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
HSPD1
(G563A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
HSPD1
(A476S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
+4 more
GBenign
HSPD1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
HSPD1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
HSPD1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+2 more
GBenign/Likely benign
HSPD1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
HSPD1
(R142K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
HSPD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSPD1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign
HSPD1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
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