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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL7
(R1713G +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(S1535L +3 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(I1534F +2 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(W996* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CUL7
(L826R +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
GUncertain significance
CUL7
(R734C +1 more)
Single nucleotide variant
(missense variant)
3M syndrome 1
+1 more
GUncertain significance
CUL7
(R210W)
Single nucleotide variant
(missense variant +1 more)
3M syndrome 1
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
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