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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHP2, RMND5B
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita
+2 more
GBenign/Likely benign
NHP2
(A17V)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal recessive 2
GUncertain significance
NHP2, RMND5B
(H132Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita
+1 more
GUncertain significance
NHP2
(V64M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
NHP2, RMND5B
(P82L)
Single nucleotide variant
(missense variant +2 more)
Dyskeratosis congenita, autosomal recessive 2
+3 more
GBenign/Likely benign
NHP2, RMND5B
Single nucleotide variant
(stop lost +1 more)
not provided
GPathogenic
NHP2, RMND5B
(V126M)
Single nucleotide variant
(synonymous variant +2 more)
Dyskeratosis congenita, autosomal recessive 2
GPathogenic
NHP2, RMND5B
(Y139H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 2
GPathogenic
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