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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM106B
(R56I)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
GUncertain significance
TMEM106B
(T233A)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
GUncertain significance
TMEM106B
(N155S)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
+1 more
GUncertain significance
TMEM106B
(V175I)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
GUncertain significance
TMEM106B
Single nucleotide variant
(intron variant)
Leukodystrophy, hypomyelinating, 16
GBenign
TMEM106B
Insertion
(intron variant)
Leukodystrophy, hypomyelinating, 16
GBenign
TMEM106B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMEM106B
(T185S)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
+1 more
GBenign
TMEM106B
(D19H)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
GUncertain significance
TMEM106B
(D252N)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 16
+1 more
GPathogenic/Likely pathogenic
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