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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM63B
(S396L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMEM63B
(Q477E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC132089394, TMEM63B
(M593T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM63B
(D811N)
Single nucleotide variant
(missense variant)
TMEM63B-related Neurodevelopmental disorder
GUncertain significance
LOC132089394, TMEM63B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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