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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF7
(Y145S)
Single nucleotide variant
(missense variant)
Male infertility due to gonadal dysgenesis or sperm disorder
+8 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(synonymous variant +2 more)
TTC8-related condition
+7 more
GConflicting classifications of pathogenicity