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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETD2
(G1657V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(N1497S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(R1441T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(T407I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(K253E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(S251fs +1 more)
Deletion
(frameshift variant +1 more)
SETD2-related disorder
GLikely pathogenic
SETD2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SETD2
(K101N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SETD2
(K31N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
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