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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDNRA
(W210R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibulofacial dysostosis with alopecia
GUncertain significance
EDNRA
Single nucleotide variant
(intron variant)
Mandibulofacial dysostosis with alopecia
+2 more
GBenign/Likely benign
EDNRA
Insertion
(intron variant)
Mandibulofacial dysostosis with alopecia
+2 more
GBenign
EDNRA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
EDNRA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
EDNRA
Single nucleotide variant
(synonymous variant +1 more)
Migraine with or without aura, susceptibility to, 1
+2 more
GBenign/Likely benign
EDNRA
Single nucleotide variant
(synonymous variant +1 more)
Mandibulofacial dysostosis with alopecia
+2 more
GBenign/Likely benign
EDNRA
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
EDNRA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
EDNRA
Single nucleotide variant
(synonymous variant +1 more)
Migraine with or without aura, susceptibility to, 1
+3 more
GBenign/Likely benign
EDNRA
(E303K +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibulofacial dysostosis with alopecia
GPathogenic
EDNRA
(Y129F)
Single nucleotide variant
(missense variant +1 more)
Mandibulofacial dysostosis with alopecia
GPathogenic
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