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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(R622* +7 more)
Single nucleotide variant
(nonsense)
Pfeiffer syndrome
+5 more
GPathogenic/Likely pathogenic
FGFR1
Microsatellite
(intron variant)
Hypogonadotropic hypogonadism
GUncertain significance
FGFR1
(P145A +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism
GUncertain significance
FGFR1
(S129C +2 more)
Single nucleotide variant
(intron variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GConflicting classifications of pathogenicity
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