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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLP1
(A341V +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 10
GUncertain significance
CLP1
(L198V +1 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 10
GUncertain significance
CLP1
(T98R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 10
GUncertain significance
CLP1
(K54del)
Deletion
(inframe_deletion)
Pontocerebellar hypoplasia type 10
GUncertain significance
CLP1
(R143C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CLP1
(L141*)
Single nucleotide variant
(nonsense +1 more)
Pontocerebellar hypoplasia type 10
GUncertain significance
CLP1
(R104G)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 10
GUncertain significance
CLP1
(G60C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CLP1
(R140H)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 10
+1 more
GPathogenic/Likely pathogenic
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