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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMAA
(H112Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMAA
(K165R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMAA
(F345fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
MMAA
(Q363H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
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