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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT85
(S275P +1 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 4, hair/nail type
GUncertain significance
KRT85
(P483fs +1 more)
Deletion
(frameshift variant)
Ectodermal dysplasia 4, hair/nail type
GPathogenic
KRT74
(F274S)
Single nucleotide variant
(missense variant)
not provided
GBenign
KRT85
(R78H)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 4, hair/nail type
+2 more
GBenign/Likely benign
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