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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAT1
(F769fs +2 more)
Deletion
(frameshift variant +1 more)
BRAT1-related disorder
+5 more
GPathogenic/Likely pathogenic
BRAT1
(R387P +1 more)
Single nucleotide variant
(missense variant +1 more)
BRAT1-related disorder
GLikely pathogenic
BRAT1
(V214fs +1 more)
Duplication
(frameshift variant +1 more)
BRAT1-related disorder
+4 more
GPathogenic/Likely pathogenic
BRAT1
(L99fs)
Duplication
(frameshift variant +2 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
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