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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCLO
(T1617A)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(Q552H)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(P484fs)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 3
GPathogenic
PCLO
(I4249T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(G1716V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(R4210G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PCLO
Duplication
(splice acceptor variant +1 more)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(M1188V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(S1532N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PCLO
(Q2524L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+2 more
GConflicting classifications of pathogenicity
PCLO
(R3982H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(Q275del)
Deletion
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
PCLO
(R2056K)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+2 more
GConflicting classifications of pathogenicity
PCLO
(R4416H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(R4272C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(P2555L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(K2306E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(S1741T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(G3003V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PCLO
(L591F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(H4191R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 3
GBenign
PCLO
(P585S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(S4814A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PCLO
(S501P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PCLO
(S814T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GBenign
PCLO
(D287G)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GBenign
PCLO
Duplication
(inframe_insertion)
not provided
+1 more
GBenign
PCLO
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PCLO
(I288R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(V2459F)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(P2178S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PCLO
(R1756H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCLO
(Q859R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(S3891P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(T3594A)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(L3165S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(D3125N)
Single nucleotide variant
(missense variant)
PCLO-related disorder
+2 more
GConflicting classifications of pathogenicity
PCLO
(G2690D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCLO
(P2178H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(D1631V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(D1566G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(R1123C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCLO
(P529T)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(P4524L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GConflicting classifications of pathogenicity
PCLO
(P3860S)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(F3640L)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
GUncertain significance
PCLO
(A433T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PCLO
(R104H)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+2 more
GUncertain significance
PCLO
(Q845fs)
Duplication
(frameshift variant)
Pontocerebellar hypoplasia type 3
GLikely pathogenic
PCLO
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 3
+2 more
GBenign/Likely benign
PCLO
(I4499V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PCLO
(R3542*)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 3
GPathogenic
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