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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DVL3
(G123R)
Single nucleotide variant
(missense variant)
Tented upper lip vermilion
+10 more
GLikely pathogenic
PRMT7
(E108* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+17 more
GPathogenic/Likely pathogenic
PRMT7
(C571* +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Skeletal dysplasia
+14 more
GPathogenic
CLCN1
(H555fs)
Duplication
(frameshift variant +1 more)
Lumbar hyperlordosis
+4 more
GLikely pathogenic
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