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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GTPBP2, POLR1C
(E488* +1 more)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GUncertain significance
GTPBP2, POLR1C
Single nucleotide variant
(synonymous variant +1 more)
Jaberi-Elahi syndrome
GUncertain significance
GTPBP2, POLR1C
(A116D +1 more)
Single nucleotide variant
(missense variant +1 more)
Jaberi-Elahi syndrome
GUncertain significance
GTPBP2, POLR1C
(I225M +1 more)
Single nucleotide variant
(missense variant +1 more)
Jaberi-Elahi syndrome
GUncertain significance
GTPBP2, LOC129996523
+1 more
(S3*)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
(R131*)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
(R432*)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
(E264fs +1 more)
Deletion
(frameshift variant +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
(N309fs +1 more)
Insertion
(frameshift variant +1 more)
Jaberi-Elahi syndrome
GLikely pathogenic
GTPBP2, POLR1C
(E421fs +1 more)
Microsatellite
(frameshift variant +1 more)
Jaberi-Elahi syndrome
GLikely pathogenic
GTPBP2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Jaberi-Elahi syndrome
GLikely pathogenic
POLR1C, GTPBP2
(R470* +1 more)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
(Q407* +1 more)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
(R144* +1 more)
Single nucleotide variant
(nonsense +1 more)
Jaberi-Elahi syndrome
GPathogenic
GTPBP2, POLR1C
Single nucleotide variant
(intron variant +1 more)
Jaberi-Elahi syndrome
GPathogenic
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