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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNK4, KCNK4-CATSPERZ
(A244P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized hypertrichosis
+4 more
GPathogenic
KCNK4, KCNK4-CATSPERZ
(A172E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
+5 more
GPathogenic/Likely pathogenic