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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD9
(R1293Q)
Single nucleotide variant
(missense variant)
SAMD9-related condition
GPathogenic
SAMD9
(R982C)
Single nucleotide variant
(missense variant)
MIRAGE syndrome
+4 more
GConflicting classifications of pathogenicity
SAMD9
(E974K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
SAMD9
(R459Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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