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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFWD3
(R526K +2 more)
Single nucleotide variant
(missense variant)
Fanconi anemia, complementation group W
GUncertain significance
RFWD3
(T90N)
Single nucleotide variant
(missense variant +2 more)
Fanconi anemia, complementation group W
+1 more
GBenign
RFWD3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RFWD3
Single nucleotide variant
(intron variant)
Fanconi anemia, complementation group W
GBenign
RFWD3
Single nucleotide variant
(synonymous variant)
Fanconi anemia, complementation group W
+1 more
GLikely benign
RFWD3
(V119L +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia, complementation group W
+1 more
GUncertain significance
RFWD3
(C178S +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia, complementation group W
GUncertain significance
RFWD3
(I639K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RFWD3
(L69fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
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