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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KISS1R
Single nucleotide variant
(synonymous variant)
Centra precocious puberty 1
+3 more
GBenign/Likely benign
KISS1R
(P147S)
Single nucleotide variant
(missense variant)
Centra precocious puberty 1
GUncertain significance
KISS1R
(L364H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KISS1R
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
KISS1R
(R386P)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
KISS1R
(L102P)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 8 with or without anosmia
+2 more
GPathogenic/Likely pathogenic
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