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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF2
(V256L)
Single nucleotide variant
(missense variant)
Luo-Schoch-Yamamoto syndrome
GUncertain significance
RNF2
(Q301R)
Single nucleotide variant
(missense variant)
Luo-Schoch-Yamamoto syndrome
GUncertain significance
RNF2
Single nucleotide variant
(splice acceptor variant)
Luo-Schoch-Yamamoto syndrome
GUncertain significance
RNF2
(M220fs)
Insertion
(frameshift variant)
Luo-Schoch-Yamamoto syndrome
GLikely benign
RNF2
(S82R)
Single nucleotide variant
(missense variant)
Luo-Schoch-Yamamoto syndrome
GPathogenic
RNF2
(R70H)
Single nucleotide variant
(missense variant)
RNF2-associated neurodevelopmental condition
GUncertain significance
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