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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1D
(G21fs)
Duplication
(frameshift variant +1 more)
Treacher Collins syndrome 2
GLikely pathogenic
POLR1D
(V30fs)
Deletion
(frameshift variant +1 more)
Treacher Collins syndrome 2
GLikely pathogenic
POLR1D
(G88fs)
Deletion
(frameshift variant +1 more)
Treacher Collins syndrome 2
GPathogenic
POLR1D
(V110A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLR1D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
POLR1D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
POLR1D
(T72A)
Single nucleotide variant
(missense variant +1 more)
Treacher Collins syndrome 2
GUncertain significance
POLR1D
(L55V)
Single nucleotide variant
(missense variant +1 more)
Treacher Collins syndrome 2
GPathogenic
POLR1D
(Q31fs)
Duplication
(frameshift variant +1 more)
Treacher Collins syndrome 2
GPathogenic
POLR1D
(T89fs)
Duplication
(frameshift variant +1 more)
Treacher Collins syndrome 2
GPathogenic
POLR1D
(H109fs)
Deletion
(frameshift variant +1 more)
Treacher Collins syndrome 2
GPathogenic
POLR1D
(L51R)
Single nucleotide variant
(missense variant +1 more)
Treacher Collins syndrome 2
GPathogenic
POLR1D
(E47K)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
POLR1D
(R87*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
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