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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
(R622W +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GPathogenic/Likely pathogenic
TSC2
(R905Q +4 more)
Single nucleotide variant
(missense variant)
Lymphangiomyomatosis
+5 more
GPathogenic/Likely pathogenic
TSC2
(S1036P +6 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
GUncertain significance
TSC2
(R1200W +6 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
TSC2
(Q1503P +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
TSC2
(G1579S +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
GLikely pathogenic
TSC2
(R1713H +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
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