U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058083, POLR3K
Deletion
Leukodystrophy, hypomyelinating, 21
GPathogenic
POLR3K
(D108Y)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 21
GPathogenic
POLR3K
(N33del)
Microsatellite
(inframe_deletion)
Leukodystrophy, hypomyelinating, 21
GUncertain significance
POLR3K
(R41Q)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 21
GUncertain significance
POLR3K
(R41W)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 21
GPathogenic
Format
Sort by
Choose Destination