U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLOD2
(R659* +1 more)
Single nucleotide variant
(nonsense)
not provided
+10 more
GPathogenic/Likely pathogenic
PLOD2
(G454V)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
LBR
(R583*)
Single nucleotide variant
(nonsense)
Pelger-Hu√ęt anomaly
+6 more
GConflicting classifications of pathogenicity
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+32 more
GPathogenic
Format
Sort by
Choose Destination