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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD9L
(V1361A)
Single nucleotide variant
(missense variant)
Monosomy 7 myelodysplasia and leukemia syndrome 1
+4 more
GUncertain significance
SAMD9L
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SAMD9L
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SAMD9L
Single nucleotide variant
(synonymous variant)
Ataxia-pancytopenia syndrome
+3 more
GBenign/Likely benign
SAMD9L
(Y705C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SAMD9L
(V455A)
Single nucleotide variant
(missense variant)
Monosomy 7 myelodysplasia and leukemia syndrome 1
+3 more
GUncertain significance
SAMD9L
(L339I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 49
+3 more
GBenign/Likely benign
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