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Links from MedGen

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPD1
(D149H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
HSPD1
(G194E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 13
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
+1 more
GConflicting classifications of pathogenicity
HSPD1, LOC129935358
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 13
GBenign
HSPD1, LOC129935358
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
(I463T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
+2 more
GBenign/Likely benign
HSPD1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
(D49H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 13
+1 more
GConflicting classifications of pathogenicity
HSPD1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 13
GPathogenic
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
+2 more
GLikely benign
HSPD1, LOC129935358
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
HSPD1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
(V287I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
HSPD1
(V403M)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
HSPD1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GBenign
HSPD1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 13
GUncertain significance
HSPD1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+4 more
GBenign
HSPD1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GBenign
HSPD1
(A536V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
HSPD1
Single nucleotide variant
(synonymous variant)
HSPD1-related condition
+6 more
GBenign/Likely benign
HSPD1
(N265S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
HSPD1, LOC129935358
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
HSPD1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
HSPD1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
HSPD1
(G563A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GBenign
HSPD1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
HSPD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HSPD1, LOC129935358
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 13
+1 more
GBenign
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
+3 more
GBenign
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
HSPD1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 13
+4 more
GBenign
HSPD1
(V98I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 13
GPathogenic
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