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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(P772S +6 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+6 more
GBenign
FGFR1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FGFR1
Deletion
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
FGFR1
(Y380H +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
FGFR1-related condition
+3 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FGFR1
(W155R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGFR1
(S135T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Pfeiffer syndrome
+6 more
GBenign
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+9 more
GBenign/Likely benign
FGFR1
(S107L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GBenign/Likely benign
FGFR1
(Q72* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GPathogenic/Likely pathogenic
FGFR1
(V71L +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+2 more
GConflicting classifications of pathogenicity
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