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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FRMPD4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FRMPD4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FRMPD4
(R473W +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRMPD4
(R553Q +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRMPD4
(R894fs +5 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 104
GLikely pathogenic
FRMPD4
(Q1174E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRMPD4
(A1257P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FRMPD4
(R1521K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FRMPD4
(M1674I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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