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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD9L
(C1196S)
Single nucleotide variant
(missense variant)
Ataxia-pancytopenia syndrome
GPathogenic/Likely pathogenic
SAMD9L
(R986C)
Single nucleotide variant
(missense variant)
Ataxia-pancytopenia syndrome
+1 more
GConflicting classifications of pathogenicity
SAMD9L
(I891T)
Single nucleotide variant
(missense variant)
Ataxia-pancytopenia syndrome
GPathogenic
SAMD9L
(H880Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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