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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF6
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PHF6
Deletion
(intron variant)
not specified
+2 more
GBenign/Likely benign
PHF6
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PHF6
Single nucleotide variant
(synonymous variant)
Borjeson-Forssman-Lehmann syndrome
+3 more
GConflicting classifications of pathogenicity
PHF6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PHF6
(I230V +1 more)
Single nucleotide variant
(missense variant)
Borjeson-Forssman-Lehmann syndrome
+1 more
GConflicting classifications of pathogenicity
PHF6
(A236T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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