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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPH1
(P819L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(V755I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(K772R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(I522V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
HSPH1
(P553L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(Q553H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HSPH1
(Q552E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HSPH1
(P466R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HSPH1
(V501L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(V418I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(H332N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(L231F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(I199M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HSPH1
(V50L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HSPH1
(T35S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HSPH1
(A18V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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