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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUZ12
(R263* +1 more)
Single nucleotide variant
(nonsense)
SUZ12-related disorder
GLikely pathogenic
SUZ12
(N343S +1 more)
Single nucleotide variant
(missense variant)
SUZ12-related disorder
GLikely benign
SUZ12
(Q411H +1 more)
Single nucleotide variant
(missense variant)
SUZ12-related disorder
+1 more
GLikely benign
SUZ12
Single nucleotide variant
(synonymous variant)
SUZ12-related disorder
+1 more
GBenign
SUZ12
(R509G +1 more)
Single nucleotide variant
(missense variant)
SUZ12-related disorder
GUncertain significance
SUZ12
Single nucleotide variant
(synonymous variant)
SUZ12-related disorder
+2 more
GBenign/Likely benign
SUZ12
(K627del +1 more)
Microsatellite
(inframe_deletion)
SUZ12-related disorder
GUncertain significance
SUZ12
(S703N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
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